research questions about health and disease

77 interesting medical research topics for 2024

Last updated

25 November 2023

Reviewed by

Brittany Ferri, PhD, OTR/L

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Medical research is the gateway to improved patient care and expanding our available treatment options. However, finding a relevant and compelling research topic can be challenging.

Use this article as a jumping-off point to select an interesting medical research topic for your next paper or clinical study.

• How to choose a medical research topic

When choosing a research topic , it’s essential to consider a couple of things. What topics interest you? What unanswered questions do you want to address? 

During the decision-making and brainstorming process, here are a few helpful tips to help you pick the right medical research topic:

Focus on a particular field of study

The best medical research is specific to a particular area. Generalized studies are often too broad to produce meaningful results, so we advise picking a specific niche early in the process. 

Maybe a certain topic interests you, or your industry knowledge reveals areas of need.

Look into commonly researched topics

Once you’ve chosen your research field, do some preliminary research. What have other academics done in their papers and projects? 

From this list, you can focus on specific topics that interest you without accidentally creating a copycat project. This groundwork will also help you uncover any literature gaps—those may be beneficial areas for research.

Get curious and ask questions

Now you can get curious. Ask questions that start with why, how, or what. These questions are the starting point of your project design and will act as your guiding light throughout the process. 

For example: 

What impact does pollution have on children’s lung function in inner-city neighborhoods? 

Why is pollution-based asthma on the rise? 

How can we address pollution-induced asthma in young children? 

• 77 medical research topics worth exploring in 2023

Need some research inspiration for your upcoming paper or clinical study? We’ve compiled a list of 77 topical and in-demand medical research ideas. Let’s take a look. 

• Exciting new medical research topics

If you want to study cutting-edge topics, here are some exciting options:

COVID-19 and long COVID symptoms

Since 2020, COVID-19 has been a hot-button topic in medicine, along with the long-term symptoms in those with a history of COVID-19. 

Examples of COVID-19-related research topics worth exploring include:

The long-term impact of COVID-19 on cardiac and respiratory health

COVID-19 vaccination rates

The evolution of COVID-19 symptoms over time

New variants and strains of the COVID-19 virus

Changes in social behavior and public health regulations amid COVID-19

Vaccinations

Finding ways to cure or reduce the disease burden of chronic infectious diseases is a crucial research area. Vaccination is a powerful option and a great topic to research. 

Examples of vaccination-related research topics include:

mRNA vaccines for viral infections

Biomaterial vaccination capabilities

Vaccination rates based on location, ethnicity, or age

Public opinion about vaccination safety 

Artificial tissues fabrication

With the need for donor organs increasing, finding ways to fabricate artificial bioactive tissues (and possibly organs) is a popular research area. 

Examples of artificial tissue-related research topics you can study include:

The viability of artificially printed tissues

Tissue substrate and building block material studies

The ethics and efficacy of artificial tissue creation

• Medical research topics for medical students

For many medical students, research is a big driver for entering healthcare. If you’re a medical student looking for a research topic, here are some great ideas to work from:

Sleep disorders

Poor sleep quality is a growing problem, and it can significantly impact a person’s overall health. 

Examples of sleep disorder-related research topics include:

How stress affects sleep quality

The prevalence and impact of insomnia on patients with mental health conditions

Possible triggers for sleep disorder development

The impact of poor sleep quality on psychological and physical health

How melatonin supplements impact sleep quality

Alzheimer’s and dementia 

Cognitive conditions like dementia and Alzheimer’s disease are on the rise worldwide. They currently have no cure. As a result, research about these topics is in high demand. 

Examples of dementia-related research topics you could explore include:

The prevalence of Alzheimer’s disease in a chosen population

Early onset symptoms of dementia

Possible triggers or causes of cognitive decline with age

Treatment options for dementia-like conditions

The mental and physical burden of caregiving for patients with dementia

• Lifestyle habits and public health

Modern lifestyles have profoundly impacted the average person’s daily habits, and plenty of interesting topics explore its effects. 

Examples of lifestyle and public health-related research topics include:

The nutritional intake of college students

The impact of chronic work stress on overall health

The rise of upper back and neck pain from laptop use

Prevalence and cause of repetitive strain injuries (RSI)

• Controversial medical research paper topics

Medical research is a hotbed of controversial topics, content, and areas of study. 

If you want to explore a more niche (and attention-grabbing) concept, here are some controversial medical research topics worth looking into:

The benefits and risks of medical cannabis

Depending on where you live, the legalization and use of cannabis for medical conditions is controversial for the general public and healthcare providers.

Examples of medical cannabis-related research topics that might grab your attention include:

The legalization process of medical cannabis

The impact of cannabis use on developmental milestones in youth users

Cannabis and mental health diagnoses

CBD’s impact on chronic pain

Prevalence of cannabis use in young people

The impact of maternal cannabis use on fetal development 

Understanding how THC impacts cognitive function

Human genetics

The Human Genome Project identified, mapped, and sequenced all human DNA genes. Its completion in 2003 opened up a world of exciting and controversial studies in human genetics.

Examples of human genetics-related research topics worth delving into include:

Medical genetics and the incidence of genetic-based health disorders

Behavioral genetics differences between identical twins

Genetic risk factors for neurodegenerative disorders

Machine learning technologies for genetic research

Sexual health studies

Human sexuality and sexual health are important (yet often stigmatized) medical topics that need new research and analysis.

As a diverse field ranging from sexual orientation studies to sexual pathophysiology, examples of sexual health-related research topics include:

The incidence of sexually transmitted infections within a chosen population

Mental health conditions within the LGBTQIA+ community

The impact of untreated sexually transmitted infections

Access to safe sex resources (condoms, dental dams, etc.) in rural areas

• Health and wellness research topics

Human wellness and health are trendy topics in modern medicine as more people are interested in finding natural ways to live healthier lifestyles. 

If this field of study interests you, here are some big topics in the wellness space:

Gluten sensitivity

Gluten allergies and intolerances have risen over the past few decades. If you’re interested in exploring this topic, your options range in severity from mild gastrointestinal symptoms to full-blown anaphylaxis. 

Some examples of gluten sensitivity-related research topics include:

The pathophysiology and incidence of Celiac disease

Early onset symptoms of gluten intolerance

The prevalence of gluten allergies within a set population

Gluten allergies and the incidence of other gastrointestinal health conditions

Pollution and lung health

Living in large urban cities means regular exposure to high levels of pollutants. 

As more people become interested in protecting their lung health, examples of impactful lung health and pollution-related research topics include:

The extent of pollution in densely packed urban areas

The prevalence of pollution-based asthma in a set population

Lung capacity and function in young people

The benefits and risks of steroid therapy for asthma

Pollution risks based on geographical location

Plant-based diets

Plant-based diets like vegan and paleo diets are emerging trends in healthcare due to their limited supporting research. 

If you’re interested in learning more about the potential benefits or risks of holistic, diet-based medicine, examples of plant-based diet research topics to explore include:

Vegan and plant-based diets as part of disease management

Potential risks and benefits of specific plant-based diets

Plant-based diets and their impact on body mass index

The effect of diet and lifestyle on chronic disease management

Health supplements

Supplements are a multi-billion dollar industry. Many health-conscious people take supplements, including vitamins, minerals, herbal medicine, and more. 

Examples of health supplement-related research topics worth investigating include:

Omega-3 fish oil safety and efficacy for cardiac patients

The benefits and risks of regular vitamin D supplementation

Health supplementation regulation and product quality

The impact of social influencer marketing on consumer supplement practices

Analyzing added ingredients in protein powders

• Healthcare research topics

Working within the healthcare industry means you have insider knowledge and opportunity. Maybe you’d like to research the overall system, administration, and inherent biases that disrupt access to quality care. 

While these topics are essential to explore, it is important to note that these studies usually require approval and oversight from an Institutional Review Board (IRB). This ensures the study is ethical and does not harm any subjects. 

For this reason, the IRB sets protocols that require additional planning, so consider this when mapping out your study’s timeline. 

Here are some examples of trending healthcare research areas worth pursuing:

The pros and cons of electronic health records

The rise of electronic healthcare charting and records has forever changed how medical professionals and patients interact with their health data. 

Examples of electronic health record-related research topics include:

The number of medication errors reported during a software switch

Nurse sentiment analysis of electronic charting practices

Ethical and legal studies into encrypting and storing personal health data

Inequities within healthcare access

Many barriers inhibit people from accessing the quality medical care they need. These issues result in health disparities and injustices. 

Examples of research topics about health inequities include:

The impact of social determinants of health in a set population

Early and late-stage cancer stage diagnosis in urban vs. rural populations

Affordability of life-saving medications

Health insurance limitations and their impact on overall health

Diagnostic and treatment rates across ethnicities

People who belong to an ethnic minority are more likely to experience barriers and restrictions when trying to receive quality medical care. This is due to systemic healthcare racism and bias. 

As a result, diagnostic and treatment rates in minority populations are a hot-button field of research. Examples of ethnicity-based research topics include:

Cancer biopsy rates in BIPOC women

The prevalence of diabetes in Indigenous communities

Access inequalities in women’s health preventative screenings

The prevalence of undiagnosed hypertension in Black populations

• Pharmaceutical research topics

Large pharmaceutical companies are incredibly interested in investing in research to learn more about potential cures and treatments for diseases. 

If you’re interested in building a career in pharmaceutical research, here are a few examples of in-demand research topics:

Cancer treatment options

Clinical research is in high demand as pharmaceutical companies explore novel cancer treatment options outside of chemotherapy and radiation. 

Examples of cancer treatment-related research topics include:

Stem cell therapy for cancer

Oncogenic gene dysregulation and its impact on disease

Cancer-causing viral agents and their risks

Treatment efficacy based on early vs. late-stage cancer diagnosis

Cancer vaccines and targeted therapies

Immunotherapy for cancer

Pain medication alternatives

Historically, opioid medications were the primary treatment for short- and long-term pain. But, with the opioid epidemic getting worse, the need for alternative pain medications has never been more urgent. 

Examples of pain medication-related research topics include:

Opioid withdrawal symptoms and risks

Early signs of pain medication misuse

Anti-inflammatory medications for pain control

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Research Topics & Ideas: Healthcare

F inding and choosing a strong research topic is the critical first step when it comes to crafting a high-quality dissertation, thesis or research project. If you’ve landed on this post, chances are you’re looking for a healthcare-related research topic , but aren’t sure where to start. Here, we’ll explore a variety of healthcare-related research ideas and topic thought-starters across a range of healthcare fields, including allopathic and alternative medicine, dentistry, physical therapy, optometry, pharmacology and public health.

NB – This is just the start…

The topic ideation and evaluation process has multiple steps . In this post, we’ll kickstart the process by sharing some research topic ideas within the healthcare domain. This is the starting point, but to develop a well-defined research topic, you’ll need to identify a clear and convincing research gap , along with a well-justified plan of action to fill that gap.

If you’re new to the oftentimes perplexing world of research, or if this is your first time undertaking a formal academic research project, be sure to check out our free dissertation mini-course. In it, we cover the process of writing a dissertation or thesis from start to end. Be sure to also sign up for our free webinar that explores how to find a high-quality research topic.

Overview: Healthcare Research Topics

• Allopathic medicine
• Alternative /complementary medicine
• Veterinary medicine
• Physical therapy/ rehab
• Optometry and ophthalmology
• Pharmacy and pharmacology
• Public health
• Examples of healthcare-related dissertations

Allopathic (Conventional) Medicine

• The effectiveness of telemedicine in remote elderly patient care
• The impact of stress on the immune system of cancer patients
• The effects of a plant-based diet on chronic diseases such as diabetes
• The use of AI in early cancer diagnosis and treatment
• The role of the gut microbiome in mental health conditions such as depression and anxiety
• The efficacy of mindfulness meditation in reducing chronic pain: A systematic review
• The benefits and drawbacks of electronic health records in a developing country
• The effects of environmental pollution on breast milk quality
• The use of personalized medicine in treating genetic disorders
• The impact of social determinants of health on chronic diseases in Asia
• The role of high-intensity interval training in improving cardiovascular health
• The efficacy of using probiotics for gut health in pregnant women
• The impact of poor sleep on the treatment of chronic illnesses
• The role of inflammation in the development of chronic diseases such as lupus
• The effectiveness of physiotherapy in pain control post-surgery

Topics & Ideas: Alternative Medicine

• The benefits of herbal medicine in treating young asthma patients
• The use of acupuncture in treating infertility in women over 40 years of age
• The effectiveness of homoeopathy in treating mental health disorders: A systematic review
• The role of aromatherapy in reducing stress and anxiety post-surgery
• The impact of mindfulness meditation on reducing high blood pressure
• The use of chiropractic therapy in treating back pain of pregnant women
• The efficacy of traditional Chinese medicine such as Shun-Qi-Tong-Xie (SQTX) in treating digestive disorders in China
• The impact of yoga on physical and mental health in adolescents
• The benefits of hydrotherapy in treating musculoskeletal disorders such as tendinitis
• The role of Reiki in promoting healing and relaxation post birth
• The effectiveness of naturopathy in treating skin conditions such as eczema
• The use of deep tissue massage therapy in reducing chronic pain in amputees
• The impact of tai chi on the treatment of anxiety and depression
• The benefits of reflexology in treating stress, anxiety and chronic fatigue
• The role of acupuncture in the prophylactic management of headaches and migraines

Topics & Ideas: Dentistry

• The impact of sugar consumption on the oral health of infants
• The use of digital dentistry in improving patient care: A systematic review
• The efficacy of orthodontic treatments in correcting bite problems in adults
• The role of dental hygiene in preventing gum disease in patients with dental bridges
• The impact of smoking on oral health and tobacco cessation support from UK dentists
• The benefits of dental implants in restoring missing teeth in adolescents
• The use of lasers in dental procedures such as root canals
• The efficacy of root canal treatment using high-frequency electric pulses in saving infected teeth
• The role of fluoride in promoting remineralization and slowing down demineralization
• The impact of stress-induced reflux on oral health
• The benefits of dental crowns in restoring damaged teeth in elderly patients
• The use of sedation dentistry in managing dental anxiety in children
• The efficacy of teeth whitening treatments in improving dental aesthetics in patients with braces
• The role of orthodontic appliances in improving well-being
• The impact of periodontal disease on overall health and chronic illnesses

Topics & Ideas: Veterinary Medicine

• The impact of nutrition on broiler chicken production
• The role of vaccines in disease prevention in horses
• The importance of parasite control in animal health in piggeries
• The impact of animal behaviour on welfare in the dairy industry
• The effects of environmental pollution on the health of cattle
• The role of veterinary technology such as MRI in animal care
• The importance of pain management in post-surgery health outcomes
• The impact of genetics on animal health and disease in layer chickens
• The effectiveness of alternative therapies in veterinary medicine: A systematic review
• The role of veterinary medicine in public health: A case study of the COVID-19 pandemic
• The impact of climate change on animal health and infectious diseases in animals
• The importance of animal welfare in veterinary medicine and sustainable agriculture
• The effects of the human-animal bond on canine health
• The role of veterinary medicine in conservation efforts: A case study of Rhinoceros poaching in Africa
• The impact of veterinary research of new vaccines on animal health

Topics & Ideas: Physical Therapy/Rehab

• The efficacy of aquatic therapy in improving joint mobility and strength in polio patients
• The impact of telerehabilitation on patient outcomes in Germany
• The effect of kinesiotaping on reducing knee pain and improving function in individuals with chronic pain
• A comparison of manual therapy and yoga exercise therapy in the management of low back pain
• The use of wearable technology in physical rehabilitation and the impact on patient adherence to a rehabilitation plan
• The impact of mindfulness-based interventions in physical therapy in adolescents
• The effects of resistance training on individuals with Parkinson’s disease
• The role of hydrotherapy in the management of fibromyalgia
• The impact of cognitive-behavioural therapy in physical rehabilitation for individuals with chronic pain
• The use of virtual reality in physical rehabilitation of sports injuries
• The effects of electrical stimulation on muscle function and strength in athletes
• The role of physical therapy in the management of stroke recovery: A systematic review
• The impact of pilates on mental health in individuals with depression
• The use of thermal modalities in physical therapy and its effectiveness in reducing pain and inflammation
• The effect of strength training on balance and gait in elderly patients

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Topics & Ideas: Optometry & Opthalmology

• The impact of screen time on the vision and ocular health of children under the age of 5
• The effects of blue light exposure from digital devices on ocular health
• The role of dietary interventions, such as the intake of whole grains, in the management of age-related macular degeneration
• The use of telemedicine in optometry and ophthalmology in the UK
• The impact of myopia control interventions on African American children’s vision
• The use of contact lenses in the management of dry eye syndrome: different treatment options
• The effects of visual rehabilitation in individuals with traumatic brain injury
• The role of low vision rehabilitation in individuals with age-related vision loss: challenges and solutions
• The impact of environmental air pollution on ocular health
• The effectiveness of orthokeratology in myopia control compared to contact lenses
• The role of dietary supplements, such as omega-3 fatty acids, in ocular health
• The effects of ultraviolet radiation exposure from tanning beds on ocular health
• The impact of computer vision syndrome on long-term visual function
• The use of novel diagnostic tools in optometry and ophthalmology in developing countries
• The effects of virtual reality on visual perception and ocular health: an examination of dry eye syndrome and neurologic symptoms

Topics & Ideas: Pharmacy & Pharmacology

• The impact of medication adherence on patient outcomes in cystic fibrosis
• The use of personalized medicine in the management of chronic diseases such as Alzheimer’s disease
• The effects of pharmacogenomics on drug response and toxicity in cancer patients
• The role of pharmacists in the management of chronic pain in primary care
• The impact of drug-drug interactions on patient mental health outcomes
• The use of telepharmacy in healthcare: Present status and future potential
• The effects of herbal and dietary supplements on drug efficacy and toxicity
• The role of pharmacists in the management of type 1 diabetes
• The impact of medication errors on patient outcomes and satisfaction
• The use of technology in medication management in the USA
• The effects of smoking on drug metabolism and pharmacokinetics: A case study of clozapine
• Leveraging the role of pharmacists in preventing and managing opioid use disorder
• The impact of the opioid epidemic on public health in a developing country
• The use of biosimilars in the management of the skin condition psoriasis
• The effects of the Affordable Care Act on medication utilization and patient outcomes in African Americans

Topics & Ideas: Public Health

• The impact of the built environment and urbanisation on physical activity and obesity
• The effects of food insecurity on health outcomes in Zimbabwe
• The role of community-based participatory research in addressing health disparities
• The impact of social determinants of health, such as racism, on population health
• The effects of heat waves on public health
• The role of telehealth in addressing healthcare access and equity in South America
• The impact of gun violence on public health in South Africa
• The effects of chlorofluorocarbons air pollution on respiratory health
• The role of public health interventions in reducing health disparities in the USA
• The impact of the United States Affordable Care Act on access to healthcare and health outcomes
• The effects of water insecurity on health outcomes in the Middle East
• The role of community health workers in addressing healthcare access and equity in low-income countries
• The impact of mass incarceration on public health and behavioural health of a community
• The effects of floods on public health and healthcare systems
• The role of social media in public health communication and behaviour change in adolescents

Examples: Healthcare Dissertation & Theses

While the ideas we’ve presented above are a decent starting point for finding a healthcare-related research topic, they are fairly generic and non-specific. So, it helps to look at actual dissertations and theses to see how this all comes together.

Below, we’ve included a selection of research projects from various healthcare-related degree programs to help refine your thinking. These are actual dissertations and theses, written as part of Master’s and PhD-level programs, so they can provide some useful insight as to what a research topic looks like in practice.

• Improving Follow-Up Care for Homeless Populations in North County San Diego (Sanchez, 2021)
• On the Incentives of Medicare’s Hospital Reimbursement and an Examination of Exchangeability (Elzinga, 2016)
• Managing the healthcare crisis: the career narratives of nurses (Krueger, 2021)
• Methods for preventing central line-associated bloodstream infection in pediatric haematology-oncology patients: A systematic literature review (Balkan, 2020)
• Farms in Healthcare: Enhancing Knowledge, Sharing, and Collaboration (Garramone, 2019)
• When machine learning meets healthcare: towards knowledge incorporation in multimodal healthcare analytics (Yuan, 2020)
• Integrated behavioural healthcare: The future of rural mental health (Fox, 2019)
• Healthcare service use patterns among autistic adults: A systematic review with narrative synthesis (Gilmore, 2021)
• Mindfulness-Based Interventions: Combatting Burnout and Compassionate Fatigue among Mental Health Caregivers (Lundquist, 2022)
• Transgender and gender-diverse people’s perceptions of gender-inclusive healthcare access and associated hope for the future (Wille, 2021)
• Efficient Neural Network Synthesis and Its Application in Smart Healthcare (Hassantabar, 2022)
• The Experience of Female Veterans and Health-Seeking Behaviors (Switzer, 2022)
• Machine learning applications towards risk prediction and cost forecasting in healthcare (Singh, 2022)
• Does Variation in the Nursing Home Inspection Process Explain Disparity in Regulatory Outcomes? (Fox, 2020)

Looking at these titles, you can probably pick up that the research topics here are quite specific and narrowly-focused , compared to the generic ones presented earlier. This is an important thing to keep in mind as you develop your own research topic. That is to say, to create a top-notch research topic, you must be precise and target a specific context with specific variables of interest . In other words, you need to identify a clear, well-justified research gap.

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18 Comments

I need topics that will match the Msc program am running in healthcare research please

Hello Mabel,

I can help you with a good topic, kindly provide your email let’s have a good discussion on this.

Can you provide some research topics and ideas on Immunology?

Thank you to create new knowledge on research problem verse research topic

Help on problem statement on teen pregnancy

This post might be useful: https://gradcoach.com/research-problem-statement/

can you give me research titles that i can conduct as a school nurse

can you provide me with a research topic on healthcare related topics to a qqi level 5 student

Please can someone help me with research topics in public health ?

Hello I have requirement of Health related latest research issue/topics for my social media speeches. If possible pls share health issues , diagnosis, treatment.

I would like a topic thought around first-line support for Gender-Based Violence for survivors or one related to prevention of Gender-Based Violence

Please can I be helped with a master’s research topic in either chemical pathology or hematology or immunology? thanks

Can u please provide me with a research topic on occupational health and safety at the health sector

Good day kindly help provide me with Ph.D. Public health topics on Reproductive and Maternal Health, interventional studies on Health Education

may you assist me with a good easy healthcare administration study topic

May you assist me in finding a research topic on nutrition,physical activity and obesity. On the impact on children

I have been racking my brain for a while on what topic will be suitable for my PhD in health informatics. I want a qualitative topic as this is my strong area.

Hi, may I please be assisted with research topics in the medical laboratory sciences

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• Special Article
• Published: 17 October 2020

Research Questions that Matter to Us: priorities of young people with chronic illnesses and their caregivers

• Emily von Scheven 1 ,
• Bhupinder K. Nahal 1 ,
• Isabel C. Cohen 1 ,
• Rosa Kelekian 1 &
• Linda S. Franck 2  

Pediatric Research volume  89 ,  pages 1659–1663 ( 2021 ) Cite this article

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The rising number of children carrying chronic disease with them into adulthood presents the research community with an obligation to address their unique needs. Authentic involvement of individuals and communities directly affected by the condition being studied ensures that research answers the questions of those most affected. Our aim was to identify the highest priority research questions of young people living with chronic illness and their caregivers.

Materials and Methods

We conducted a qualitative study using the Research Prioritization by Affected Communities (RPAC) method. Participants were recruited from two hospitals and two community organizations to participate in focus groups.

Twenty three participants developed and prioritized 300 potentially researchable questions. Thematic analysis of the priority research topics revealed three health dimensions of chronic illness (physical health, social-emotional health and navigating the health care system) and two cross-cutting dimensions (living with a chronic illness and future with a chronic illness).

Young people experiencing different chronic conditions were able to achieve consensus on the same set of condition-agnostic research priorities, age and role influenced research priorities. We report these research priorities to inform and influence local and national research agendas and funding priorities.

Patients and caregivers affected by different chronic illnesses were able to achieve consensus on condition-agnostic research priorities. Age and role influenced research priorities.

Questions posed by young people experiencing different chronic conditions fell under three themes (physical, social–emotional and health care system) and two cross-cutting dimensions (living with a chronic illness and future with a chronic illness).

Use of the Research Prioritization by Affected Communities (RPAC) method, which begins with the patient’s lived experiences, provided nuanced insights into the complexity of living with a chronic illness and surfaced under-studied research topics to guide future research investment.

You have full access to this article via your institution.

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A qualitative exploration of professionals’ perspectives on the implementation of reablement intervention programs in community care

Considerations for patient and public involvement and engagement in health research

Lessons on targeting family mental health and improving outcomes for children of parents with a mental illness, introduction.

There has been a growing international movement in recent years for greater patient and public involvement (PPI) in all aspects of the research process, including determining the focus, design, implementation, analysis, and dissemination of findings. Authentic involvement of individuals and communities directly affected by the condition being studied ensures that research answers the questions of those most affected by the condition. 1 Although patients, families, and communities are frequently engaged in pediatric service delivery planning, there remains a need for greater PPI in the field of pediatric research. 2 Because PPI remains relatively new within pediatric research, there is little understanding regarding topics of interest for patients and their families. The research interests of pediatric patients living with chronic conditions, which will last throughout adulthood, remain an important knowledge gap. In this report, we present research priorities of young people living with chronic conditions and their caregivers for the purpose of informing and influencing local and national research agendas and funding priorities.

Study design

We conducted focus groups according to the Research Prioritization by Affected Communities (RPAC) method 3 to investigate young people’s and caregivers’ unanswered questions about chronic conditions in the context of their own experiences. As specified by the RPAC method, research questions and topics were generated directly from individuals most affected by the condition, rather than beginning with a review of the medical literature, which prioritizes the questions of academics and clinicians. The RPAC method has been used effectively to illuminate the priorities of women and men from communities at high risk for preterm birth and parents of preterm infants. 3 , 4 We also followed the long-form checklist from the Guidance for Reporting Involvement of Patients and the Public (GRIPP2), developed by international consensus to ensure quality, transparency, and consistency of reporting PPI in research. 5

Participant recruitment

Participants were recruited by flier and website advertisements from two local children’s hospitals, Benioff Children’s Hospital San Francisco (BCH-SF) and Oakland (BCH-O), which serve different populations, and from two local community organizations, San Francisco Support for Families of Children with Disabilities (SFCD), and California Children’s Services, which provide a range of support services for families of children with chronic illness. Three cohorts of participants were recruited: adolescent patients age 15–18 years, young adult patients age 19–25 years, and caregivers (parents or guardians). The inclusion criteria for patients were: English literate and living with a chronic illness for >1 year, which was anticipated to last into adulthood. 6 Caregivers were included if they were English literate and caring for a child or young adult patient with a chronic condition. Only one participant per family and no more than two patients with the same condition were included in any focus group. The project was approved by the University of California, San Francisco Institutional Review Board (#17-23588). Each participant received a $25 Target gift card. Compensation for child care and travel, and refreshments were offered for each focus group session.

Focus groups were held at BCH-O and SFCD. Following the RPAC method, 3 facilitators used scripts tailored to each group and setting. During the first focus group session participants shared their experiences of living (or caring for someone) with a chronic condition and generated an extensive list of questions. The research team then categorized these questions by topic. During the second focus group, participants prioritized the topics they wanted researchers to focus on and ranked the specific questions they were most eager to have answered.

The ranking of the priority topics was compared across the five groups to identify patterns by role and location. Using qualitative thematic analysis, research questions were grouped into themes and subthemes. 7 The first and last authors listened to the recordings, reviewed the transcripts for accuracy and conducted first-level coding to develop themes and subthemes. The full author group, including two focus group participants, reviewed, discussed, and refined themes, identifying relevant quotes to serve as exemplars. Any disagreements were resolved by further discussion and consensus.

Five cohorts participated in focus group sessions: two caregiver groups, two adolescent patient groups (one each at BCH-O and SFCD) and one young adult patient group at SFCD. A total of 12 caregivers, 5 young adult patients, and 6 adolescents participated. Participants varied in age, race/ethnicity, insurance status, and chronic condition (Table  1 ). All participants attended two sessions, ~6 weeks apart between February and May, 2018.

Across the five groups, a total of 300 potentially researchable questions were developed, representing 21 distinct research topics (see Fig.  1 for the top 3 research questions by group, and Supplementary Table  S1 for the complete list). Although the top-ranked topic varied by group, the following five topics were priorities across all groups: Health Care System and Care Coordination/Communication; Insurance/Health Care Coverage; Patient–Parent–Provider Relationship and Communication; Social/Emotional/Family Impact and Support; and Transition to Independence: Going from Pediatric to Adult Care (Fig.  2 ).

SFCD San Francisco Support for Families of Children with Disabilities, BCH-O Benioff Children’s Hospital-Oakland.

All groups highly ranked the following five topics (highlighted in color): Health Care System and Care Coordination/Communication, Insurance/Health Care Coverage, Patient–Parent–Provider Relationship/Communication, Social/Emotional/Family Impact and Support; and Transition to Independence. SFCD San Francisco Support for Families of Children with Disabilities, BCH-O Benioff Children’s Hospital-Oakland.

Differences in prioritization of topics were noted across groups. For example, medication research was included in the top-ranked topics for all three patient groups, but not the caregiver groups. Stress and coping research only appeared as a priority topic for the young adult patient group. They also expressed concern about burdening their parents. In contrast, the caregiver groups posed questions focused on support for caregivers, health care systems, communication, and support for their child in the future should the caregiver become incapacitated or deceased. The caregivers described a notion of “the parent as the expert” and the burden of the caregiver’s duties as “a second job”. The young adult patients’ research questions focused on the future in relation to the long-term effects of both their medications and their chronic condition, as well as the importance of research related to finding a “new normal” and promoting hope. The adolescent patient’s questions focused on the impact of chronic illness on school and family life and finding ways to better understand and manage their symptoms. They also described facing a daily ethical dilemma around accepting school accommodations.

Thematic analysis of the highest ranking potentially researchable questions across all groups revealed three health dimensions of chronic illness research: questions about physical health, social–emotional health, and navigating the health care system. In addition, the research team recognized two cross-cutting dimensions that reflected the interconnectedness of domains and the dimension of time (living with a chronic illness and future with a chronic illness).

Using the RPAC method, pediatric chronic illness patients and their caregivers generated numerous researchable questions and topics that may be used to guide future research and study planning. The RPAC method was selected because our aim was to elicit research questions and achieve consensus on priority research topics directly from the individuals who experience the health condition of interest. 3 Inclusion of patients in research follows a continuum from engagement, to participation, to involvement. 8 Involvement, the highest level of contact between researchers and the public, occurs when patients or members of the affected community are actively involved in all aspects of the research process, including the development of research priorities. 9 RPAC was developed to enhance the involvement of patients in identifying research priorities by engaging directly with participants about their personal experiences, rather than beginning with survey data or researcher developed topics. Similar to prior studies, our findings include pediatric chronic illness research interests across a wide range of topics. 10 Our work adds to the literature by identifying research priorities that are condition agnostic. Moreover, many of the priorities focus on health service delivery and finance, similar to the priorities generated by a multi-stakeholder group for children and youth with special healthcare needs. 11

Holding separate focus groups for participants of different ages and roles allowed us to identify the unique priorities for each group. Adolescents were most concerned with symptom management and school, young adults focused primarily on future health and employment, and caregivers prioritized both current and long-term challenges navigating the health care system. Anchoring the focus group discussion in participants’ personal experiences allowed us to achieve greater insight into the complexity of living with a chronic illness. Several important worries emerged, such as young people’s concerns about burdening their parents and the feeling among caregivers that caring for the chronically ill child was akin to a second job. While all groups shared common themes, we gained insight into how age and role may contribute to the types of questions that are most relevant to individuals impacted by chronic illness. Our findings have informed a collaborative process with patients and researchers working side by side to develop a research protocol that answer’s a high priority question in our community.

We note several limitations of this study. Although the study sample was small, and included only English speakers, the impressive number of questions that were generated demonstrates the power of the RPAC method. In addition, the thematic analysis was performed by consensus and thus subject to bias from more influential members of the group; however, the inclusion of two focus group participants in the analysis enhanced the trustworthiness of the process.

Our primary aim was to identify research priorities for patients and caregivers and to make them available publicly so that research funders, researchers, and communities can pursue or advocate for research on these priorities ( https://childhoodchronicillness.ucsf.edu/patientfamilypriorities ). Our findings have other applications more broadly in the health care arena. Our hope is that the power and importance of involving patients and caregivers in research and the development of interventions is more widely recognized. We also encourage healthcare and social service providers to use these findings to direct the development of educational and clinical interventions that address the patient’s greatest areas of concern. Finally, PPI is a compelling method to inform and engage individuals in their own healthcare, which beyond its value to research has the potential to positively impact health literacy, patient empowerment, trust, and service quality. 12 , 13

Molloy et al. 2 challenge the pediatric research community to embrace PPI in child health research. Our work builds upon this recommendation, and we encourage researchers and donors to include patients and caregivers in decisions about research priorities and funding. Partnership at all levels and stages of research ensures that resources are directed to activities that are impactful and desirable for communities directly affected by pediatric chronic illness. Lifting up the voices of patients and caregivers is a crucial part of identifying the research questions that will shape the future of chronic illness care.

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Acknowledgements

Research reported in this publication was funded through a Patient-Centered Outcomes Research Institute® (PCORI®) Award (5134413).

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Emily von Scheven, Bhupinder K. Nahal, Isabel C. Cohen & Rosa Kelekian

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E.v.S. contributed as follows: substantial contributions to conception and design, acquisition of data, analysis and interpretation of data, drafting the article and revising it critically for important intellectual content, and final approval of the version to be published. B.K.N. contributed as follows: substantial contribution to acquisition of data, analysis, and final approval of the version to be published. I.C.C. contributed as follows: substantial contribution to analysis and interpretation of the data, and final approval of the version to be published. R.K. contributed as follows: substantial contribution to analysis and interpretation of the data, and final approval of the version to be published. L.S.F. contributed as follows: substantial contribution to conception and design, acquisition of data, analysis and interpretation of data, drafting the article and revising it critically for important intellectual content, and final approval of the version to be published.

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von Scheven, E., Nahal, B.K., Cohen, I.C. et al. Research Questions that Matter to Us: priorities of young people with chronic illnesses and their caregivers. Pediatr Res 89 , 1659–1663 (2021). https://doi.org/10.1038/s41390-020-01207-6

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Received : 29 June 2020

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Accepted : 25 September 2020

Published : 17 October 2020

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DOI : https://doi.org/10.1038/s41390-020-01207-6

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December 22, 2021

2021 Research Highlights — Human Health Advances

Disease prevention, diagnosis, and treatment.

With NIH support, scientists across the United States and around the world conduct wide-ranging research to discover ways to enhance health, lengthen life, and reduce illness and disability. Groundbreaking NIH-funded research often receives top scientific honors. In 2021, these honors included Nobel Prizes to five NIH-supported scientists . Here’s just a small sample of the NIH-supported research accomplishments in 2021.

Printer-friendly version of full 2021 NIH Research Highlights

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COVID-19 spread and vaccines

NIH researchers continued to make scientific breakthroughs to help control the COVID-19 pandemic. Studies of spread suggested strategies for controlling infections . Research also revealed who was most at risk of becoming severely ill from COVID-19: nearly two-thirds of COVID-19 hospitalizations in the U.S. were due to obesity, diabetes, hypertension, and heart failure . Wide-spread vaccine rollouts slowed the spread of SARS-CoV-2, the virus that causes COVID-19. The Moderna COVID-19 vaccine, developed with NIH, proved to be 94% effective against symptomatic COVID-19 . Six months later, people who had been vaccinated still showed signs of immunity . COVID-19 vaccines saved an estimated 140,000 lives through May 2021, and hundreds of thousands more have been saved since. As SARS-CoV-2 mutated and new variants became common, scientists conducted studies on booster doses of vaccine. These suggested that COVID-19 boosters not only lengthen immunity but help broaden and strengthen the immune response to protect against a wide variety of variants.

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Drug delays type 1 diabetes onset

In type 1 diabetes, the immune system’s T cells attack the insulin-producing beta cells in the pancreas. Those affected need insulin treatment to survive. In a clinical trial of people at risk of developing type 1 diabetes (with a median age of 13), the drug teplizumab delayed disease onset and improved insulin production. The findings support the use of the drug for delaying or preventing type 1 diabetes.

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Gene therapy effective in human trials

Advances in gene therapy are showing promise for people with life-threatening conditions. Using gene therapy, researchers were able to introduce a healthy copy of a disease-causing gene and restore immune system function in children with a rare genetic disorder called severe combined immunodeficiency, or SCID. In another study, researchers safely delivered gene therapy to the brain to treat a debilitating neurological disease for which there are no effective treatments.

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Low-fat diet compared to low-carb diet

There has been a great deal of debate over what aspects of our diets affect weight control. A carefully controlled study found that people ate fewer calories per day and lost more weight on a plant-based, low-fat diet compared to an animal-based, low-carb diet. However, the low-fat diet led to higher insulin and blood sugar levels, which can be risk factors for heart disease. The findings reveal how restricting dietary carbohydrates or fats may impact health.

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Supplement targets gut microbes to boost growth in malnourished children

The effects of childhood malnutrition can cause lifelong health problems. Researchers found that a supplement designed to repair the gut microbiome—the bacteria, viruses, and fungi in the digestive system—helped malnourished children. Those given the supplement gained more weight than children on a standard nutritional supplement. The experimental supplement also raised levels of proteins in the blood associated with bone, cartilage, and brain health.

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Test may help reduce racial disparities in kidney disease

A common blood test for kidney function measures a protein called creatinine. But Black Americans generally have higher amounts of creatinine. As a result, doctors take race into account when testing for kidney disease. A study showed that measuring levels of another protein called cystatin C can accurately estimate kidney function without needing to take race into account. A race-blind method for estimating kidney function could more effectively identify chronic kidney disease.

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Malaria vaccines provide strong and lasting immunity

Malaria is caused by parasites transmitted by infected mosquitoes. Researchers developed a vaccine approach that uses live sporozoites, the infectious form of the malaria parasite, along with a drug that kills the parasite. In a small trial, the approach led to broad, long-lasting protection against malaria. The strategy is now being tested in real-world conditions in a Phase 2 clinical trial in Mali.

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Devices in the brain help paralyzed people communicate

Technological advances are enabling people who have lost the ability to move or speak to communicate again. Scientists developed a device to decode brain activity into words in real time , allowing a person with paralysis to communicate in complete sentences. Another system quickly translates brain signals for imagined handwriting into text . These systems could make communication for people with severe paralysis more natural and efficient.

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Defining the Question: Foreground & Background Questions

In order to most appropriately choose an information resource and craft a search strategy, it is necessary to consider what  kind  of question you are asking: a specific, narrow "foreground" question, or a broader background question that will help give context to your research?

Foreground Questions

A "foreground" question in health research is one that is relatively specific, and is usually best addressed by locating primary research evidence. 

Using a structured question framework can help you clearly define the concepts or variables that make up the specific research question. 

 Across most frameworks, you’ll often be considering:

• a who (who was studied - a population or sample)
• a what (what was done or examined - an intervention, an exposure, a policy, a program, a phenomenon)
• a how ([how] did the [what] affect the [who] - an outcome, an effect). 

PICO is the most common framework for developing a clinical research question, but multiple question frameworks exist.

PICO (Problem/Population, Intervention, Comparison, Outcome)

Appropriate for : clinical questions, often addressing the effect of an intervention/therapy/treatment

Example : For adolescents with type II diabetes (P) does the use of telehealth consultations (I) compared to in-person consultations  (C) improve blood sugar control  (O)?

Framing Different Types of Clinical Questions with PICO

Different types of clinical questions are suited to different syntaxes and phrasings, but all will clearly define the PICO elements.  The definitions and frames below may be helpful for organizing your question:

Intervention/Therapy

Questions addressing how a clinical issue, illness, or disability is treated.

"In__________________(P), how does__________________(I) compared to_________________(C) affect______________(O)?"

Questions that address the causes or origin of disease, the factors which produce or predispose toward a certain disease or disorder.

"Are_________________(P), who have_________________(I) compared with those without_________________(C) at_________________risk for/of_________________(O) over_________________(T)?" 

Questions addressing the act or process of identifying or determining the nature and cause of a disease or injury through evaluation.

In_________________(P) are/is_________________(I) compared with_________________(C) more accurate in diagnosing_________________(O)?

Prognosis/Prediction:

Questions addressing the prediction of the course of a disease.

In_________________(P), how does_________________(I) compared to_________________ (C) influence_________________(O)?

Questions addressing how one experiences a phenomenon or why we need to approach practice differently.

"How do_________________(P) with_________________(I) perceive_________________(O)?" 

Adapted from: Melnyk, B. M., & Fineout-Overholt, E. (2011). Evidence-based practice in nursing & healthcare: A guide to best practice. Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins.

Beyond PICO: Other Types of Question Frameworks

PICO is a useful framework for clinical research questions, but may not be appropriate for all kinds of reviews.  Also consider:

PEO (Population, Exposure, Outcome)

Appropriate for : describing association between particular exposures/risk factors and outcomes

Example : How do  preparation programs (E) influence the development of teaching competence  (O) among novice nurse educators  (P)?

SPIDER (Sample, Phenomenon of Interest, Design, Evaluation, Research Type)

Appropriate for : questions of experience or perspectives (questions that may be addressed by qualitative or mixed methods research)

Example : What are the experiences and perspectives (E) of  undergraduate nursing students  (S)  in clinical placements within prison healthcare settings (PI)?

SPICE (Setting, Perspective, Intervention/phenomenon of Interest, Comparison, Evaluation)

Appropriate for : evaluating the outcomes of a service, project, or intervention

Example : What are the impacts and best practices for workplace (S) transition support programs (I) for the retention (E) of newly-hired, new graduate nurses (P)?

PCC (Problem/population, Concept, Context)

Appropriate for : broader (scoping) questions

Example : How do nursing schools  (Context) teach, measure, and maintain nursing students ' (P)  technological literacy  (Concept))throughout their educational programs?

Background Questions

To craft a strong and reasonable foreground research question, it is important to have a firm understanding of the concepts of interest.  As such, it is often necessary to ask background questions, which ask for more general, foundational knowledge about a disorder, disease, patient population, policy issue, etc. 

For example, consider the PICO question outlined above:

"For adolescents with type II diabetes does the use of telehealth consultations compared to in-person consultations  improve blood sugar control ?

To best make sense of the literature that might address this PICO question, you would also need a deep understanding of background questions like:

• What are the unique barriers or challenges related to blood sugar management in adolescents with TII diabetes?
• What are the measures of effective blood sugar control?
• What kinds of interventions would fall under the umbrella of 'telehealth'?
• What are the qualitative differences in patient experience in telehealth versus in-person interactions with healthcare providers?
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Participating in Health Research Studies

What is health research.

• Is Health Research Safe?
• Is Health Research Right for Me?
• Types of Health Research

The term "health research," sometimes also called "medical research" or "clinical research," refers to research that is done to learn more about human health. Health research also aims to find better ways to prevent and treat disease. Health research is an important way to help improve the care and treatment of people worldwide.

Have you ever wondered how certain drugs can cure or help treat illness? For instance, you might have wondered how aspirin helps reduce pain. Well, health research begins with questions that have not been answered yet such as:

"Does a certain drug improve health?"

To gain more knowledge about illness and how the human body and mind work, volunteers can help researchers answer questions about health in studies of an illness. Studies might involve testing new drugs, vaccines, surgical procedures, or medical devices in clinical trials . For this reason, health research can involve known and unknown risks. To answer questions correctly, safely, and according to the best methods, researchers have detailed plans for the research and procedures that are part of any study. These procedures are called "protocols."

An example of a research protocol includes the process for determining participation in a study. A person might meet certain conditions, called "inclusion criteria," if they have the required characteristics for a study. A study on menopause may require participants to be female. On the other hand, a person might not be able to enroll in a study if they do not meet these criteria based on "exclusion criteria." A male may not be able to enroll in a study on menopause. These criteria are part of all research protocols. Study requirements are listed in the description of the study.

A Brief History

While a few studies of disease were done using a scientific approach as far back as the 14th Century, the era of modern health research started after World War II with early studies of antibiotics. Since then, health research and clinical trials have been essential for the development of more than 1,000 Food and Drug Administration (FDA) approved drugs. These drugs help treat infections, manage long term or chronic illness, and prolong the life of patients with cancer and HIV.

Sound research demands a clear consent process. Public knowledge of the potential abuses of medical research arose after the severe misconduct of research in Germany during World War II. This resulted in rules to ensure that volunteers freely agree, or give "consent," to any study they are involved in. To give consent, one should have clear knowledge about the study process explained by study staff. Additional safeguards for volunteers were also written in the Nuremberg Code and the Declaration of Helsinki .

New rules and regulations to protect research volunteers and to eliminate ethical violations have also been put in to place after the Tuskegee trial . In this unfortunate study, African American patients with syphilis were denied known treatment so that researchers could study the history of the illness. With these added protections, health research has brought new drugs and treatments to patients worldwide. Thus, health research has found cures to many diseases and helped manage many others.

Why is Health Research Important?

The development of new medical treatments and cures would not happen without health research and the active role of research volunteers. Behind every discovery of a new medicine and treatment are thousands of people who were involved in health research. Thanks to the advances in medical care and public health, we now live on average 10 years longer than in the 1960's and 20 years longer than in the 1930's. Without research, many diseases that can now be treated would cripple people or result in early death. New drugs, new ways to treat old and new illnesses, and new ways to prevent diseases in people at risk of developing them, can only result from health research.

Before health research was a part of health care, doctors would choose medical treatments based on their best guesses, and they were often wrong. Now, health research takes the guesswork out. In fact, the Food and Drug Administration (FDA) requires that all new medicines are fully tested before doctors can prescribe them. Many things that we now take for granted are the result of medical studies that have been done in the past. For instance, blood pressure pills, vaccines to prevent infectious diseases, transplant surgery, and chemotherapy are all the result of research.

Medical research often seems much like standard medical care, but it has a distinct goal. Medical care is the way that your doctors treat your illness or injury. Its only purpose is to make you feel better and you receive direct benefits. On the other hand, medical research studies are done to learn about and to improve current treatments. We all benefit from the new knowledge that is gained in the form of new drugs, vaccines, medical devices (such as pacemakers) and surgeries. However, it is crucial to know that volunteers do not always receive any direct benefits from being in a study. It is not known if the treatment or drug being studied is better, the same, or even worse than what is now used. If this was known, there would be no need for any medical studies.

• Next: Is Health Research Safe? >>
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Kohlhammer VW, author; Schildmann J, Buch C, Zerth J, editors. Defining the Value of Medical Interventions: Normative and Empirical Challenges [Internet]. Stuttgart (DE): W. Kohlhammer GmbH; 2021.

Defining the Value of Medical Interventions: Normative and Empirical Challenges [Internet].

The concepts of ‘health’ and ‘disease’.

Francisca Stutzin Donoso .

This chapter provides an overview of the problem of conceptual definition of ‘health’ and ‘disease’ as a background to situate and introduce the discussion about health outcomes and value of new medical interventions. This work reflects and discusses broader literature on this topic by highlighting the available – and lacking – definitions in the specific context of health institutions in the UK. After introducing the World Health Organization's (WHO) definition of ‘health’ and some general criticisms of it, two more recent and particularly relevant positive definitions of ‘health’ are presented, stressing the potential connection between such definitions and the role of healthcare services. This is followed by a more extensive analysis of positive definitions of ‘disease’ since the technical literature seems particularly prolific and relevant. In order to organise the discussion, this chapter frames the different approaches to positive definitions of ‘disease’ within the fact/value problem. At the same time that it introduces three of the most influential conceptualisations of disease (Biostatistical Theory, The APA Task Force work and the Harm Dysfunction Analysis), it illustrates three possible positions regarding the fact/value problem in this matter (strong descriptivism, strong normativism, and mixed descriptive/normativism, respectively). Finally, because of the lack of a successful and agreed definition of ‘disease’, this chapter highlights recent efforts to embrace the disjunctive and vague elements of this concept, allowing and encouraging specific and contextual cluster definitions of ‘disease’, which seem particularly useful to contextualise and open the discussion on how to think about the idea of health outcomes and value in medical interventions.

1. Introduction: building the bridge between the concepts of ‘health’ and ‘disease’ and the of idea value in medical interventions

Conceptual constructs tend to become naturalised and their meanings are taken for granted in the work to push disciplines further. Although this might be necessary to some extent, keeping in mind the frailty of conceptual definitions may be just as important for disciplines to move forward without oversimplifying or lacking context and complexity. Thus, by taking a step back and focusing on the question of what is value in the context of new medical interventions, this book highlights the importance of conceptual discussions in the background of highly applied fields associated with healthcare delivery which face challenging practical decisions of prioritisation, resource allocation and conflicting goals.

preventing people from dying prematurely

enhancing the quality of life for people with long-term conditions

helping people to recover from episodes of ill health or following injury

ensuring that people have a positive experience of care

treating and caring for people in a safe environment and protecting them from avoidable harm ( NHS, 2020 ).

Although analysing these dimensions in-depth goes beyond the scope of this work, acknowledging this framework serves the purpose of showing how sanitary goals and health outcomes can potentially raise tensions when prioritising.

It is clearly unfeasible to pursue all these outcomes simultaneously and some may come into direct conflict with one another. A good example of this is how sometimes enhancing the quality of life of someone living with a long-term condition may imply that it is not possible to prevent that person from dying prematurely. 1

Complexities associated with this are in direct connection with their immediate conceptual context, i.e. the concepts of ‘health’ and ‘disease’ to which this chapter is dedicated. Academic discussion around these two underlying concepts in all health-related issues is highly prolific and still unresolved. Usually taken for granted, one could claim these concepts may be central to defining when, how and with which goals medical interventions should be developed and applied, framing and contributing to the overarching focus of this book: exploring different definitions and approaches to value and how to incorporate these into the assessment of new medical interventions.

This chapter will argue that there needs to be a clear rationale connecting the concepts of ‘health’ (and ‘disease’), health outcomes and the value of medical interventions to have consistent systems with clear and achievable goals in which results or measurements can actually be put into context and offer valuable input. We will see how this core idea underlies most of the problems presented in this book. 2

The concepts of ‘health’ and ‘disease’ play an important part in everyone's daily experience of being alive and still manage to escape the descriptive possibilities of language – puzzling philosophers of science, sociologists, psychologists and many others, these concepts somehow invite Augustine's reflection on the question of “what, then, is time?” – so sensibly highlighted by Ricoeur in the preface to Time and Narrative, “I know well enough what it is, provided that nobody asks me; but if I am asked what it is and I try to explain, I am baffled” (Saint Augustin in Ricoeur, 1984, p. xi). Very similarly, addressing the concepts of ‘health’ and ‘disease’ implies engaging in an ongoing quest.

2. The complexities behind conceptualising health: Its operationalisation and the goals of medicine

The current Constitution of the NHS in the UK, last updated in 2015, does not define what counts as health or disease. However, it does state that the NHS’ aims to improve health and well-being, supporting people to keep mentally and physically well, to help them get better when they are ill and, if they cannot fully recover, help them to stay as well as possible till the end of their lives ( NHS, 2015 ). It is possible to see from this statement that the core idea underlying the use of the concept of ‘health’ mirrors a positive definition 3 based on a state of well-being that includes both a mental and physical dimension. The UK's National Institute for Health and Care Excellence (NICE) does not define health specifically but health-related quality of life as “a combination of a person's physical, mental and social well-being; not merely the absence of disease” ( NICE, 2018 ). The NICE definition paraphrases one stated in and enforced by the WHO Constitution, according to which, “health is a state of complete physical, mental and social wellbeing and not merely the absence of disease or infirmity” ( WHO, 1948 ). In this manner, the UK seems to embrace a positive understanding of health, rejecting negative definitions based on the absence of disease.

The overall assessment of the definition offered by the WHO proposes that by suggesting a positive operationalisation of the concept of ‘health’, it represents an improvement over previous negative definitions, but it, nonetheless, raises significant problems. These are mostly related to the idea of “complete well-being”, which NICE omits.

Critical views on the definition offered by the WHO raise issues particularly relevant for the topic of this book. Some critiques suggest that it seems idealistic and unachievable, labelling most of the population as unhealthy most of the time. Critiques argue that this definition could contribute to the medicalisation of society, justify unlimited development of drugs or treatments, and create serious challenges for healthcare systems that have to find a balance between individual health needs and the resources available. Further critiques of this definition are related to disease patterns shifting from acute to chronic conditions, supporting the idea that conceptualisations of health and disease might be closely related to historical context and associated health developments. Additional critiques of this definition include, among many others, problems for disease classifications systems (e.g. quality of life, disability, functioning) since health, as “complete” well-being, does not allow for measurement or operational specification ( Bircher, 2005 ; Huber et al., 2011 ).

In all critiques, these considerations work to bridge the gap between the relevant conceptualisations of health and disease and define the value of medical interventions. Broadly speaking, if the value of medical interventions comes from a focus on improving the health and reducing the disease burden on individuals and populations, then what counts as ‘health’ and ‘disease’ matters.

a dynamic state of wellbeing characterized by a physical, mental and social potential, which satisfies the demands of a life commensurate with age, culture, and personal responsibility. If the potential is insufficient to satisfy these demands the state is disease. ( Bircher, 2005 , p. 336)

This definition seems to be an overall improvement of the definition offered by the WHO because it allows health to be a variable state within the lifespan of an individual, attending to relevant dimensions and being, in this sense, more realistic. However, this definition resorts to controversial or difficult concepts – mental and social potential and personal responsibility – that would also require a definition for this concept of ‘health’ to be practicable.

In contrast to this long-winded definition, Huber et al. ( 2011 , p. 2) define health as the “ability to adapt and self-manage”, with specific characterisations in the three domains of health: physical, mental and social. This understanding of health seems particularly interesting because it diverges completely from the WHO legacy, stressing the capacity or functioning of the individual, thus, potentially reconfiguring the role of healthcare services and the value of medical interventions in terms of support towards developing such functioning.

Furthermore, this definition may be particularly relevant in current times when chronic diseases are the main disease burden in the UK and the rest of the world. Chronic diseases currently account for 90 % of all deaths in the UK, and the risk of dying prematurely from a chronic disease is 11 % ( Office for National Statistics, 2017 ; WHO, 2017 ). 4 Furthermore, chronic diseases account for 50 % of all general practice appointments, 64 % of outpatient appointments, 70 % of all inpatient bed days and 70 % of the total health and care expenditure in England ( Department of Health, 2012 ). 5 This information implies that currently and in terms of disease burden, full recovery is not an option in most cases, therefore, self-management and the possibility to mobilise resources become key concepts in assessing the value of medical interventions ( Bodenheimer et al., 2002 ). This idea of self-management and the possibility to mobilise resources remains closely linked to the capabilities approach and its application to this field. 6

3. The complexities behind conceptualising disease: what can we learn from key definitions?

Regarding positive definitions of ‘disease’, those that do not merely place explanatory value on the absence of health, the overall picture is just as dynamic and unresolved. This discussion is very prolific both in terms of the literature generated and the many working definitions ( Lemoine, 2013 ; Walker and Rogers, 2018 ). However, specifically in the context of official health institutions in the UK, neither the NHS nor NICE acknowledges or defines of the concept of ‘disease’ or any other related concepts such as ‘disorder’, ‘condition’, ‘sickness’, ‘infirmity’ or ‘illness’. Therefore, it might be thought that such national institutions implicitly embrace a negative definition of ‘disease’ by setting their focus on health. In other words, ‘disease’ is broadly taken to be the absence of health.

As an effort to systematise the extensive literature on the concept of ‘disease’, Boorse ( 2011 ) suggests that there are five commonly present elements in most ‘health’ and ‘disease’ definitions. These elements include (1) medical treatment, (2) pain, discomfort and disability, (3) statistical abnormality, (4) disvalue and (5) specific biological ideas: homeostasis, fitness and adaptation. However, counter-examples for each of these elements show that all fail to be neither necessary nor sufficient for a satisfactory definition of these concepts at an abstract theoretical level, 7 thus, illustrating how challenging it seems to be to reach satisfactory definitions.

Traditional conceptual analysis in philosophy broadly implies aiming at an exact, descriptive definition by “testing a definitional criteria and exceptions against a set of given cases, while drawing up counter-cases against an opponent's definition”, thus, identifying conditions that are both necessary and sufficient to define a concept and the exceptions to these conditions ( Lemoine, 2013 , p. 310). However, because of the lack of a satisfactory descriptive definition of ‘health’ and ‘disease’, it has been argued that conceptual analysis can provide descriptive or naturalist (factual) definitions or normativist (value) definitions. The former are value-free definitional criteria, while the latter are value-laden definitional criteria, broadly assuming that disease is bad for the person and health is desirable. Although most authors provide some kind of normativist definitional criteria for ‘health’ and ‘disease’, which may be soft, in the sense that may also include some descriptive conditions, some very influential definitions adopt a strong descriptive approach, stressing the importance to continue working on value-free definitional criteria for ‘health’ and ‘disease’ ( Boorse, 2011 ; Lemoine, 2013 ).

In order to illustrate this very dynamic discussion and provide some background on what is the state-of-the-art, it seems relevant to present some of the most influential definitions of the concept of ‘disease’. These include Boorse's ( 1977 ) Biostatistical Theory, which represents a strong descriptivist (value-free) position, Spitzer and Endicott's ( 1978 ) tentative proposed definition and criteria of medical and mental disorder, which represents a rather normativist (value-laden) position, and Wakefield's ( 1992 ) Harm Dysfunction Analysis, which represents a mixed position, stressing the importance of naturalist and normativist components.

Boorse's ( 1977 ) Biostatistical Theory, being largely laden towards normativist definitions of ‘health’ and ‘disease’, emerges as a strong critique of previous literature on the topic. The author offers a strong descriptive definition, stressing that health and disease evaluations are sensitive to contextual and individual variables, highlighting that the conceptual definition should be value-free to allow the individual to value the condition according to relevant specific circumstances. In this manner, according to the Biostatistical Theory, ‘health’ is defined by normal functioning, where what is normal is statistically determined and functioning refers to biological functions. Furthermore, ‘disease’ consists of deviations from the species’ biological design, therefore, identifying ‘disease’ is considered a matter of natural sciences rather than an evaluative judgment. Thus, the overall rationale and assumptions underlying this definition imply four main criteria: (1) definition of the reference class (an age group of a sex of a species), (2) definition of normal function within members (based on a statistically typical contribution to the individual survival and reproduction), (3) definition of ‘health’ in a member of the reference class as a normal functional ability and (4) definition of ‘disease’ as an internal state which reduces functional abilities below typical efficiency ( Boorse, 1977 ).

a medical disorder is a relatively distinct condition resulting from an organismic dysfunction, which in its fully developed or extreme form is directly and intrinsically associated with distress, disability, or certain other types of disadvantage. The disadvantage may be of a physical, perceptual, sexual, or interpersonal nature. Implicitly there is a call for action on the part of the person who has the condition, the medical or its allied professions, and society. A mental disorder is a medical disorder whose manifestations are primarily signs or symptoms of psychological (behavioural) nature, or if physical, can be understood only using psychological concepts. ( Spitzer and Endicott, 1978 , p. 18)

Thus, this definition comprises three fundamental ideas within the notion of medical disorder, which altogether convey the overall message that something has gone wrong in the human organism. This gives special importance to the evaluative aspect of the concept: (1) negative consequences of the condition, (2) an inferred or identified organismic dysfunction, and (3) an implicit call for action to the medical profession, the person with the condition and the society in terms of granting exemptions from certain responsibilities to those in the sick role, as well as providing a means for delivery of medical care ( Spitzer and Endicott, 1978 ). It is important to note that these authors’ ultimate interest is to define the concept of ‘mental disorder’, and since they decide to do this by considering it a subgenre of medical disorders, they also provide a definition of ‘medical disorder’. However, because of this ultimate interest, the definition avoids using the word ‘disease’ as, according to these authors, it generally denotes a progressive physical disorder of known physiopathology, which is not the case for most mental disorders. Therefore, the concept of organismic dysfunction, or its negative consequences, do not imply that these have a physical nature ( Spitzer and Endicott, 1978 ). Although analysing this definition further goes beyond the interest of this revision, it is worth noting that the authors add a list of four criteria which, they argue, must be met in order for a condition to be classified as a disorder.

a condition is a disorder if and only if (a) the condition causes harm or deprivation of benefit to the person as judged by the standards of the person's culture (the value criterion), and (b) the condition results from the inability of some internal mechanisms to perform its natural function, wherein a natural function is an effect that is part of the evolutionary explanation of the existence and structure of the mechanism (the explanatory criterion). (1992, p. 384)

a condition is a mental disorder if and only if (a) the condition causes harm or deprivation of benefit to the person as judged by the standards of the person's culture (the value criterion), and (b) the condition results from the inability of some mental mechanisms to perform its natural function, wherein a natural function is an effect that is part of the evolutionary explanation of the existence and structure of the mental mechanism (the explanatory criterion). ( Wakefield, 1992 , p. 385)

However, as stated by this author, even the clearest concepts pose areas of vagueness and ambiguity, and, in this particular definition, this indeterminacy rests on how to distinguish mental from physical mechanisms ( Wakefield, 1992 ).

All these working definitions of the concept of ‘disease’ share the idea that there is a discontinuity between health and disease, i.e. health and disease can be either present or absent. Nonetheless, the concept of dysfunction – that all these definitions share – admits different degrees and, therefore, raises the problem of using a continuous variable (dysfunction) as the basis for a categorical definition. 9 This has been described as the line-drawing problem in ‘disease’ definition ( Rogers and Walker, 2017b ).

Building on various disease examples (cancer, UTI, TB), Rogers and Walker ( 2017b ) argue that the more the scientific community learns about what constitutes ‘disease’, the more difficult it is to determine the relevant dysfunction associated with a condition. As such, the absolute philosophical perspective on disease does not reflect everyday medical practice with borderline cases, drawing boundaries as necessary for decision-making and practical purposes. So, according to Walker and Rogers ( 2018 ), the concept of ‘disease’ does not seem to be classically structured since it fails to be defined in classical ways (conceptual analysis leading to exact necessary and sufficient conditions). Following from this, the authors suggest that this concept should be approached as a disjunctive and vague concept, therefore, encouraging the academic community to focus on developing specific and contextual cluster definitions for specific reasons or aims ( Walker and Rogers, 2018 ). 10

4. Conclusion: embracing complexity

They should, where they can, act to ensure that their patients do adhere. Sometimes they cannot do this. But even in that situation there is often more they can do. They could, for example, switch the patient onto a different treatment plan, one she is more likely to adhere to. This is not, however, likely to be the best option. While it may be better for the patient than doing nothing, if the original treatment was preferred at the choice stage it is unlikely to be as beneficial as bringing it about that the patient adheres. ( Walker, 2019 , p. 141)

In this way, the goal of long-term treatment would focus on allowing patients to adhere even if this means prescribing a less effective treatment to which patients are more likely to adhere. This goal would be in line with an understanding of ‘health’ as the ability to adapt and self-manage ( Huber et al., 2011 ), potentially valuing a medical intervention to which patients are more likely to adhere over a more effective one to which patients are less likely to adhere.

will retain relevance only to the extent that they help us address real problems of these new disciplines. If they are of no discernible help, then it is best to ignore them for this case. ( Alexandrova, 2015 , p. 224)

This intrinsically flexible and contextual perspective may help us to understand and keep in mind the rigour required and the unavoidable complexity of working within the health sciences. 12 In this way, this book aims at embracing such complexity by comprising efforts from different disciplines and welcoming interdisciplinary works to address the question of what is value in the context of new medical interventions.

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Parsons’ contribution in this book discusses this precisely. The author argues that all patients (including those who lack decision-making capacity) ought to sometimes forego dialysis in favour of conservative kidney management, prioritising their quality of life over life-extending treatment.

Chapters in this book, which refer to this conceptual consistency issue, are those by Buch et al. on highly-priced pharmaceuticals and by Steigenberger et al. on integrating patients’ and social aspects into Health Technology Assessments. In the first case, assessing whether certain pharmaceuticals are too expensive will depend heavily on what societies are willing to pay and this, in turn, might be argued to depend greatly on what the states of health and disease are. This latter point also applies to the second case, which focuses on patients’ perceived value of the quality and benefit of a health technology. More contributions in this book focused on economics, such as those by Himmler and Mitchell, exemplify and refer to this matter. These works use specific understandings and frameworks for the monetary value of health in terms of well-being, for example, those defined by a specific measurement of quality of life (quality-adjusted life years) (Himmler, in this volume). Mitchell's work (in this volume) challenges this notion, as the quality of life captured by quality-adjusted life years might be considered too narrow, suggesting a shift from outcomes focused on health (such as quality-adjusted life years) towards people's capabilities.

In general terms, this means a definition focused on what health is instead of what it is not. Health defined as the absence of disease, for example, is usually described as a negative definition of health.

These statistics are based on the four main groups of non-communicable chronic diseases (cardiovascular disease, cancer, diabetes and obstructive pulmonary disease).

These statistics are based on a category of chronic diseases that is not restricted to non-communicable diseases, though it includes the main four groups as well (cardiovascular disease, cancer, diabetes and obstructive pulmonary disease).

This is discussed in-depth later in this bood in the chapters by Mitchell – briefly mentioned previously – and Ubels, who highlights the importance of combining information about capability, functioning and utility in the assessment of the value of medical interventions.

Counter-examples for each element include (1) all disease for which there is no treatment available and, conversely, non-disease medical treatments, such as plastic surgery or contraceptive pills; (2) pathological conditions that do not involve pain, discomfort or disability, such as hypertension, and, conversely, non-pathological conditions that may involve all or some of these elements, such as pregnancy; (3) many statistically abnormal conditions are not diseases, such as being left-handed and, conversely, many statistically normal conditions involve a pathological condition such as gum disease or tooth decay; and (4) depending on the context, a disease may not necessarily be bad for the individual. An example of this would be that flat feet during a period of war might save someone's life by precluding them from joining the armed forces, thus, potentially being regarded as a good thing. Finally, (5) many non-disease human functions are not homeostatic, such as growth or reproduction, and, conversely, pathologies such as sterility do not produce any homeostatic failure. If one considers that fitness stands for individual survival and reproduction, many pathological conditions do not interfere with these, such as anosmia, and, conversely, many non-pathological activities, such as mountaineering, may increase the risk of early death. Regarding adaptation, depending on the context, some diseases may not be maladaptive. An example of this would be a severe immune deficiency in a sterile environment (plastic bubble) and, conversely, many non-pathological conditions may be adaptive in one context and not in another, such as being light-skinned in Iceland or in Africa (Boorse, 2011).

This means that what is causing the symptom arises from a mental dysfunction and not that the symptom is mental dysfunction. Some symptoms, such as pain, are argued to be a mental phenomenon, but somatic dysfunctions may be the cause of pain, in which case, pain is not a mental disorder. Therefore, what matters regarding labelling purposes is that the nature of the cause of the symptom is mental.

“Biological functions may categorically cease altogether (the heart may stop beating, the liver stop metabolising, and the kidneys stop filtering blood), but short of absolute cessation of function, there are degrees of performance all the way up to abundantly healthy levels” (Rogers and Walker, 2017b, p. 415).

An example of such cluster definitions is Roger and Walker's (2017a, p. 277) working definition of borderline diseases as “X is a disease ODx if there is a dysfunction that has significant risk of causing severe harm”.

Parsons’ chapter in this publication on quality of life and life-extending treatments is a good example of this.

Some especially interdisciplinary contributions in this book that exemplify this perspective include the work by Alex, which aims at integrating economic, social and ethical elements into the valuation of medical interventions, including the rights of future generations, and the work by Napiwodzka, which discusses the added value of patients’ inclusion in clinical decision-making concerning diagnosis and treatment, with a strong focus on communication and discourse.

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• Cite this Page Donoso FS. The concepts of ‘health’ and ‘disease’: Underlying assumptions in the idea of value in medical interventions. In: Kohlhammer VW, author; Schildmann J, Buch C, Zerth J, editors. Defining the Value of Medical Interventions: Normative and Empirical Challenges [Internet]. Stuttgart (DE): W. Kohlhammer GmbH; 2021.

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• Introduction: building the bridge between the concepts of ‘health’ and ‘disease’ and the of idea value in medical interventions
• The complexities behind conceptualising health: Its operationalisation and the goals of medicine
• The complexities behind conceptualising disease: what can we learn from key definitions?
• Conclusion: embracing complexity

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• Open access
• Published: 31 August 2024

Experiences of quality of life and access to health services among rare disease caregivers: a scoping review

• Tina Černe   ORCID: orcid.org/0009-0003-6413-9239 1 ,
• Lijana Zaletel Kragelj 2 ,
• Eva Turk 3 , 4 &
• Danica Rotar Pavlič 1  

Orphanet Journal of Rare Diseases volume  19 , Article number:  319 ( 2024 ) Cite this article

Metrics details

Research on rare diseases focuses less on caregivers, who play an important role in meeting the medical and social needs of the people they care for. Caregivers of people with rare diseases face negative outcomes due to problems with diagnosis, caring for complex conditions and expensive treatments. However, the factors that affect their quality of life are poorly understood. Poor mental and physical health of caregivers has a direct impact on the person they are caring for.

To explore the literature on this topic, we conducted a scoping review in which we identified and analysed relevant studies to find out how extensively this topic has been researched. The articles were retrieved from the bibliographic databases PubMed, Ovid Medline and Ebsco Cinahl.

We initially identified 299 references and then included thirty-four articles. The included articles address three main topics, namely caregiver quality of life, health care accessibility, and the impact of health care accessibility on caregiver QOL.

This study provides information that is important to multiple providers of services as it can help to better understand caregivers and people with rare diseases and improve the quality of services offered. It highlights areas with the greatest need for change and offers insight into the complexity of caring for people with rare diseases, assisting policymakers in developing policies to support informal caregivers.

In Europe, rare or orphan diseases are defined as diseases with a prevalence of less than 5 per 10,000 people in the population [ 66 ]. The estimated number of different rare diseases is currently around 10,000 [ 32 ]. While the incidence of individual diseases is low, the collective prevalence of all types of rare diseases is high [ 76 ]. The Council of Ministers of the European Union estimates that 6 to 8% of the European population will be affected by a rare disease in their lifetime [ 58 ]. For most rare diseases, appropriate medical interventions have not yet been developed or the treatment is still unknown [ 79 ]. Although EU rare disease policy has been successful, rare disease stakeholders agree that there are still significant problems with access to orphan drugs at national level and that there are major inequalities in this area [ 61 ].

People with rare diseases and their families face the challenges of delayed diagnosis, difficult access to health care, and financially unmanageable treatment [ 74 ]. With the exception of studies focusing on specific diseases and their pathophysiology, there are few studies looking at the experiences of rare disease caregivers [ 16 ]. Caregivers of people with rare diseases are usually parents or spouses. They bear most of the physical and emotional burden of caring for a person and usually receive no financial compensation for their role [ 16 ]. In addition, many are forced give up or reduce their jobs because they have to take on the responsibility of caregiving, which can lead to additional financial problems [ 8 , 46 ].

Caregiving can involve many adjustments in a caregiver’s life, such as providing transport, running errands, providing emotional support, monitoring symptoms, taking on additional household tasks and adapting to a special diet [ 10 , 73 ]. Caregivers play an important role in the daily management of the disease. Their physical and mental state has a direct impact on the level of care they can provide to the person with the rare disease. Providing informal care can lead to unimaginable emotional, social and physical health outcomes [ 8 , 51 , 53 , 64 , 76 ].

Recently, more attention has been paid to caregivers of people with rare diseases and their quality of life (QOL). It has been shown that the role of caregivers exposes them to many negative effects resulting from the problems of diagnosis, care of complex diseases and the difficult and expensive treatment regime [ 8 , 25 , 51 ].

Studies investigating the QOL of caregivers have mostly conducted for specific rare diseases. Therefore, there is a lack of a synthesis of results that examines the factors that influence the QOL of caregivers. Knowledge about rare diseases is low, not only among the general population but also among healthcare providers [ 69 ]. Few studies have been conducted to determine how access to healthcare services affect caregivers of people with rare diseases. It has been shown, that people with rare diseases, regardless of their disease, face the same problems in accessing healthcare [ 43 ]. They encounter barriers to accessing appropriate information and specialists (who may be located in other countries) [ 76 ].

In our daily practice interacting with caregivers and people with rare diseases, we have found that there is a great need for better support and understanding of these issues and a lack of knowledge about the challenges of caring for people with rare diseases. It is therefore crucial to identify clear areas for change that should be evidence-based to help researchers, healthcare providers and other service providers develop, plan and deliver better services. To gain more information about how barriers to accessing health care affect caregivers’ QOL and to identify key areas for change. We conducted this study to learn more about how barriers to accessing healthcare affect caregivers’ QOL and to identify key areas for change. This study is one of the few to examine the relationship between QOL and barriers to access to healthcare for caregivers with rare diseases, filling a gap in international research. By exploring these questions, we aim to contribute to a broader understanding of caregiving around the world and provide valuable insights for policy makers, healthcare providers and researchers worldwide.

The aim of this study was to conduct a comprehensive literature review to address two key research questions: (1) the impact of access to health care services on the quality of life (QOL) of informal caregivers of individuals with rare diseases, and (2) the factors associated with QOL and access to health care services among informal caregivers of rare diseases.

Due to the exploratory nature of our research questions, we used a scoping review method for this study. As described by Arksey and O’Malley [ 6 ], scoping reviews serve to identify and map the available evidence on a particular topic in order to obtain a comprehensive overview of the literature. Our aim is to explore the relationship between quality of life and access to healthcare for caregivers of people living with rare diseases, and the scoping review approach fits with our aim to capture the broad landscape of literature on this topic [ 6 , 57 ]. With this review, we aim to highlight key concepts, features and knowledge gaps in the existing literature to providing a foundation for future research [ 6 , 57 ]. The methodological framework for scoping reviews proposed by Arksey and O’Malley guided us through five key steps [ 7 ].

Identification of the research question

In this study, we answered the following two research questions: (1) How does caring for a person with a rare disease affect the caregivers QOL? (2) How does access to healthcare services affect the QOL of caregivers of people with rare diseases?

Identification of relevant studies

For the literature search, journal articles published between 2005 and 2021 were searched using keywords in the following electronic databases: PubMed Central, PubMed, Ovid Medline, and Ebsco Cinahl. This time frame was chosen in order to capture the latest developments while ensuring comprehensive coverage of the existing literature. Literature searches were conducted in November and December 2021. We searched the database PROSPERO to ensure that no similar studies had been started or were planned. Search term strategies can be found in the additional files (refer to Additional file 3 ).

Study selection

A reviewer reviewed and selected the titles and abstracts that emerged from the database searches. The full texts of the selected references were then retrieved, reviewed, and article selection followed. In addition to the search strategy, we manually searched the reference lists of the included articles. To ensure proper selection of articles, some of the full-text publications were subsequently reviewed by another independent reviewer. For access to other primary sources and full-text versions of articles, we used Google Scholar and ResearchGate. The complete list of inclusion and exclusion criteria with descriptions can be found in Additional file 4 .

Charting the data

A data extraction sheet was developed to record information on authors, year, country and to identify the main themes in the included articles. We recorded the information as follows: (a) Study characteristics: authors, year and country of publication, (b) study objective, (c) study design, study methods, type of QOL instruments, (d) sample size, age and sex distribution, (e) type of rare disease, (f) common themes, (g) study results. We also reported the type of sample if the study design was qualitative. Summary and evidence tables were created for this purpose. To determine whether the diseases in the included articles were rare, we checked whether the prevalence of the disease met the European definition of rare diseases, which is defined by a prevalence of less than 5 per 10 000 people in the population [ 66 ].

Collating, summarizing, and reporting the results

In the fifth and final phase of the review, information was collected on caregivers’ QOL, access to healthcare and their possible relationship. As the studies were too heterogeneous, we undertook a narrative synthesis of the results.

General description

During the literature search, we identified 299 articles after removing duplicates. 183 articles were excluded based on title, and another 119 after reviewing the full text. The search was carried out from 22 November to 23 December. Finally, after reviewing the content of the remaining articles, 34 articles matched the searched topic. The procedure for selecting articles for a scoping review is show in Fig.  1 .

Flow diagram of inclusion and exclusion process in the scoping review

Study characteristics

A total of 34 studies met the inclusion criteria, which are listed in Table 2: Details of selected articles found in the literature search on the QOL of rare disease caregivers; and Table 3: Details of selected articles on access to health services for rare disease caregivers (see Additional file 1 and Additional file 2 ). Twenty-four studies used quantitative methods, 6 studies used qualitative methods and four studies used a mixed methods approach. The quantitative studies primarily used questionnaires and, in some cases, online surveys ( n  = 24) to collect data; the qualitative studies used face-to-face interviews ( n  = 5) and focus groups ( n  = 1) to collect data. The mixed methods studies used a combination of interviews (focus groups, face-to-face interviews, telephone) and questionnaires and online surveys.

The included studies were from 18 different countries. Figures  2 and 3 , showing the choropleth maps, clearly illustrate the samples included in this review. A detailed description of the included studies and the countries of origin can be found in the Additional file 5 (see Additional file 5 ).

Country origin of studies included in the scoping review

European countries included in the review

Fifteen different questionnaires were used to analyse QOL in the studies and are listed in Table  1 The gender distribution showed a higher proportion of women compared to men in most studies. Sample sizes in the included quantitative studies varied widely, ranging from 12 to 952 caregivers and from 5 to 33 caregivers in qualitative studies.

Results addressing QOL

We discovered three themes related to caregivers’ QOL. The first was the QOL of caregivers compared to other groups, such as caregivers of chronically ill or healthy control experts. The second was the dimensions of QOL that were most affected, and the third was the factors that influence the impairment of QOL.

QOL of informal caregivers in compared to other groups

Eight studies reported that the QOL of caregivers decreased significantly [ 1 , 5 , 28 , 37 , 49 , 54 , 67 , 82 ], seven studies also found that the QOL of caregivers was significantly lower than that of healthy controls [ 2 , 12 , 45 , 54 , 75 , 82 , 84 ]. A study by Berrocoso et al. also found that the QOL of informal caregivers of rare diseases was also lower compared to a group of caregivers of chronic diseases [ 12 ]. When comparing different types of rare diseases studies by Guarany et al. and Qi et al. found that the QOL of caregivers was significantly lower for more severe forms of rare diseases [ 31 , 65 ]. In terms of QOL and mental health, four studies reported that mothers appeared to be more affected than fathers [ 13 , 31 , 41 , 84 ]. In contrast to the previously mentioned studies, a French study found that the QOL of caregivers was consistently high, i.e. not negatively affected by caregiving [ 54 ].

Affected dimensions of QOL

In thirteen studies, caring for people with rare diseases led to lower scores in the psychological dimension of QOL, i.e. more anxiety and depression [ 5 , 12 , 24 , 28 , 36 , 40 , 45 , 49 , 52 , 54 , 70 , 82 , 84 ]. Informal caregivers often reported that the physical activity dimension was also severely impaired [ 12 , 13 , 28 , 31 , 36 , 52 , 54 , 67 , 82 ]. Four studies also reported that caregiving impacts social QOL, as caregiving burden reduces their engagement in social relationships and with their partners, which in turn negatively affects QOL [ 21 , 40 , 52 , 70 ].

Factors that influence QOL of caregivers

The QOL of the cared-for person and the informal caregiver appears to be linked. Xu et al. found that the severity of illness perceived by patients is an important factor influencing the health-related QOL of family caregivers [ 84 ]. In addition, three studies showed that a positive relationship between the QOL of the caregiver and the QOL of the cared-for person was also a factor [ 2 , 82 , 83 ]. The age of the person being cared for appears to influence QOL of caregivers. A study by Antoniadi et al. found that relative to the patient’s age of at onset of illness, a later onset was associated with a lower QOL score for the caregiver [ 5 ]. In addition, studies by Roach et al. and Boettcher et al. found that the age of the person with a rare disease is an important determinant of QOL, with QOL increasing with age, i.e., younger age is associated with poorer QOL [ 13 , 67 ]. The duration of caregiving was also related to QOL in two studies: the longer the caregiver provided care, the lower the caregiver’s QOL [ 2 , 28 ], Kanters et al. found this was also true for the number of hours spent providing care [ 36 ]. The employment of caregivers affected QOL of caregivers. Rodríguez Bermejo et al. and Alshubaili et al. showed that all those who were unable to do paid work scored higher on measures of psychological distress [ 2 , 68 ]. Rodríguez Bermejo et al. also found that people who were separated or single had higher scores for feeling overwhelmed than the rest, and single people had lower QOL scores [ 68 ], suggesting that marital status has an impact on QOL. Caregiver sleep quality was an important factor of perceived QOL as found by Feeley et al. [ 24 ]. QOL of caregivers was also negatively affected when the person they cared for had the same residence [ 81 ]. We found two factors that positively influence the QOL of caregivers. In a Chinese study, shared caregiving was found to have a positive effect on improving caregivers’ health-related QOL [ 84 ], and three studies found that better education led to better QOL [ 2 , 12 , 84 ].

Results addressing access to healthcare services

A summary of the results of the individual studies can be found in Table 3. Six studies were qualitative [ 11 , 18 , 19 , 22 , 30 , 39 ], and one was quantitative [ 33 ]. Four studies were qualitative phenomenological studies [ 11 , 18 , 22 , 30 ], two were qualitative grounded theory studies [ 19 , 39 ] and one was a cross-sectional study [ 33 ].

Diagnostic odyssey

Five studies reported that caregivers had difficulty seeking or obtaining a diagnosis [ 11 , 18 , 19 , 33 , 39 ], and two studies reported misdiagnosis [ 11 , 39 ]. Hiremath et al. found that caregivers reported medical challenges, such as switching to multiple providers before receiving a diagnosis [ 33 ]. In addition, four studies found difficulties accessing various healthcare services (e.g., referrals to specialists, physiotherapy…) [ 11 , 22 , 30 , 39 ]. Grut et al. found that the lack of involvement of many different service providers was described by caregivers as particularly difficult when it came to healthcare providers [ 30 ]. Due to the lack of treatment options, caregivers felt they had to take whatever they could get, even if the treatment was not licenced, as reported in a study by Kesselheim et al. [ 39 ].

Lack of knowledge

A common barrier to accessing healthcare services in five studies was a lack of knowledge and information on the part of healthcare providers [ 11 , 19 , 22 , 30 , 39 ]. In addition, caregivers in six studies reported difficulties in accessing information about the disease and its treatment, either on websites or from healthcare providers [ 11 , 19 , 22 , 30 , 33 , 39 ]. Currie et al. and Grut et al. found that many healthcare providers were encountering this rare disease for the first time [ 22 , 30 ]. Currie et al. and Grut et al. also found that healthcare providers sometimes made decisions based on their personal assumptions about the disease or were reluctant to refer to the information offered by caregivers and they tended not make the effort to seek additional relevant information about the diagnosis [ 22 , 30 ].

Limited collaboration and integration of health services

To overcome barriers to healthcare, caregivers had to adapt to the role of care coordinator, as coordination between different clinics and specialists was poor, as found in three studies [ 11 , 19 , 22 ]. Caregivers also took on the role of advocate because healthcare providers lacked knowledge and caregivers often knew more than healthcare providers, as reported in four studies [ 11 , 22 , 30 , 39 ]. Contact with other caregivers or participation in support groups proved to be a source of information for accessing healthcare services, as noted in three studies [ 11 , 19 , 39 ].

Financial issues

Baumbusch et al. and Hiremath et al. found that problems accessing healthcare services affect families’ financial resources as they have to pay out of pocket [ 11 , 33 ]. A study by Kesselheim et al. also found that another barrier to healthcare in certain countries is the lack of insurance coverage due to insurance companies’ lack of knowledge about the rare disease [ 39 ].

Although rare disease research is attracting increasing attention, access to healthcare services for caregivers of people with rare diseases has not been extensively studied. The aim of this review was to examine how challenges in accessing health care relate to caregivers’ QOL. To our knowledge, this study is one of the few studies to examine how QOL is viewed through the lens of barriers to accessing healthcare, with a focus on caregivers.

Our first objective was to investigate how caring for a person with a rare disease affects the caregiver’s QOL. Similar to the study by Boettcher et al. on the QOL of parents of children with rare diseases, we found that caregivers had a poorer QOL than healthy controls and caregivers of people with other chronic diseases [ 14 ]. The dimensions most affected by caregiving were psychological, physical and social. Caregivers of people with rare diseases were more likely to suffer from depression and anxiety. Our findings are consistent with a review by Pelentsov et al. which found that caregivers of people with rare diseases often feel physically exhausted suffer from sleep disturbances, fatigue, loss of appetite, weight loss, headaches and frequent colds [ 62 ]. Due to caregiving, they experience social isolation, loneliness, and dissatisfaction. Participation in social activities may be further limited by the complexity of the person’s condition and their dependence on medical devices [ 42 ]. They often feel that their social life is being cut short, that they are losing their freedom and they yearn for more spontaneity [ 62 ]. This points to the problem of the lack of respite services for rare diseases, which would allow caregivers to look after themselves and give them a much-needed break.

We found several factors that influence the QOL of caregivers of people with rare diseases. Consistent with previous research by Boettcher et al. and Pelentsov et al., we found that disease severity, patient age, education, gender, and unemployment are important factors influencing QOL [ 14 , 62 ].

In addition, we identified several new factors that influence the QOL. Sleep quality was found to correlate with QOL. As already stated by Azizi et al., better sleep quality leads to better mental and physical health and vice versa [ 9 ]. The patients perceived severity of illness was also a factor influencing caregivers’ QOL. Patients with more severe symptoms needed more support from their caregivers. It is to be expected that the QOL scores reported by caregivers caring for patients with severe illnesses would be lower than those reported by caregivers caring for patients with milder symptoms [ 20 ].

The QOL of caregivers was negatively affected if the person they cared for lived in the same house. This could mean that the person being cared for has a more severe form of the disease and needs more care, which may lead to a greater burden on the caregiver and negatively affect their QOL. These findings are consistent with those of Hughes et al. who found that having a family relationship with the care recipient and living with the care recipient were associated with higher levels of objective burden [ 34 ].

Furthermore, this could explain a positive relationship between the QOL of the caregiver and the QOL of the person being cared for. Regarding the age of the patient at the disease onset, later disease onset was associated with a lower QOL score for the caregiver. We hypothesise that this result is related to the fact that the rare disease was diagnosed later in life. This finding is similar to that of Lingen et al. who showed that the final diagnosis improves the QOL of parents whose children have a disability [ 47 ]. If this is the case, it could also be that caregivers have not received the necessary information, which is an important factor in predicting caregivers’ QOL.

The finding that a later onset of the diseases is associated with a lower QOL can also be explained by Kenny et al.‘s study, which emphasizes the significant impact on the psychological well-being of caregivers and supports the idea that early diagnosis and psychological support are crucial for better adaptation [ 38 ].

Increasing duration of care had a negative effect on QOL, both true for daily hourly care and years of care. As Vitaliano et al. emphasise, the somatic condition of caregivers deteriorates with increasing duration of care and makes them more vulnerable to the negative effects of stress [ 77 ]. Marital status was also found to have an impact on QOL. Those who were separated or were single had higher scores for feeling overwhelmed than the rest, and single people had a lower QOL, possibly suggesting that single caregivers experience less social and caregiving support and therefore experience greater strain. This could also explain the finding that shared caregiving had a positive effect on improving QOL. These interpretations would be consistent with previous findings that spouses report the lowest burden of caregiving, suggesting that sole caregiving leads to a higher perceived burden [ 34 ].

We have found that mothers have a lower QOL compared to fathers, especially in the psychosocial aspects of QOL. In families with disabled children, the traditional division of roles seems to be more pronounced, meaning that the mother takes on the role of caregiver, which is associated with lower well-being. In addition, Gray et al. have shown that illness in the family can have different meanings for men and women. In particular, women are more likely than men to blame themselves for their children’s problems and to see their identity threatened by their children’s illness [ 29 ]. As Simon noted, the differences do not just reflect differences in engagement with domestic responsibilities [ 71 ]. Even when men and women experience the same conflicts regarding work and family roles, these conflicts are interpreted differently and often to the detriment of women [ 71 ].

Our second objective was to examine how access to healthcare services affect caregivers of people with rare diseases. The most frequently cited barrier to accessing healthcare was the difficulty in obtaining a (correct) diagnosis, or the so-called diagnostic odyssey. As Nutt et al. have previously noted, delays in diagnosis and misdiagnosis are a major problem and can lead to many avoidable hospitalisations and inappropriate treatments and tests [ 58 ].

Lack of knowledge of medical staff was cited by caregivers as the most common reason for delayed diagnosis, failure of treatment or denial of social services. This led to conflicting information about the diagnosis, misunderstandings [ 78 ], or inadequate and missing information [ 26 ]. Caregivers reported how difficult it was to find healthcare providers who knew about the disease or had information about treatment. This finding is similar to that of Pelentsov et al. who found that the most frequently cited need of parents of people with rare diseases was the need for information [ 20 ]. The lack of information available to parents makes this situation difficult to deal with. Unsurprisingly, parents felt that more information and a better understanding of the disease and what to expect would help them cope with the challenges [ 17 ]. If they knew what community health services were available for their child, they could plan more confidently for the future [ 62 ]. Caregivers criticise that they refuse to seek help to overcome the limits of their knowledge [ 35 ]. The lack of knowledge and treatment options makes caregivers feel that they have to take whatever they can get, even if the treatment is not approved.

Caregivers reported limited collaboration and integration between healthcare providers, prompting them to take on the role of care coordinator to ensure that all healthcare providers have information and the newest results. They must advocate for the person they are caring for has access to much-needed services. As McMullan et al. found, caregivers often have unparalleled personal knowledge of how a rare disease affects the person, although they rarely receive enough practical or medical information to help them in their role [ 50 ]. This phenomenon often disrupts the relationship between caregivers and service providers, with caregivers taking on the role of “expert” [ 17 ]. The lack of involvement of many different service providers, but particularly the lack of involvement of healthcare providers, could be due to uncertainty about their knowledge of the rare diagnosis and therefor their suitability for treatment [ 44 ].

Problems with access to health care services also affect the financial resources of caregivers as they have to pay out of their own pocket. Although the government sometimes provides a small amount in the form of a caregiver allowance, this is not nearly enough to cover the costs of medical treatment and travelling [ 3 ]. Raising a disabled child comes with significant additional costs [ 50 ], and sometimes caregivers have to reduce their paid working hours or leave the workforce altogether [ 63 ]. Another obstacle to the utilisation of care services is the lack of insurance coverage in certain countries because insurance companies are not aware of the rare disease. A study by Gater et al. found that many drugs that are potentially effective for rare diseases are not covered by health insurance companies when used off-label in rare diseases patients [ 27 ].

We found that caregivers were able to overcome the barrier to accessing health care by interacting with other caregivers or participating in support groups, which were valuable sources of information.

Our third objective was to examine whether access to health care services affects the QOL of caregivers of people with rare diseases. Similar to our findings, Spencer-Tansley has found factors that affect the QOL, such as caregivers having to assume the role of care coordinator, social isolation, additional financial burden, and lower QOL due to time spent on care [ 72 ]. Challenges related to access to and coordination of services negatively impacted mental health. These included: trying to access health services or treatments, how care is coordinated, access to financial support, and access to other supports such as social care or respite care. Thus, we can assume that poor coordination of health services poses many emotional challenges. We found that challenges to accessing health services affect the psychological and social dimensions of QOL. Delays and difficulties in diagnosis and treatment and misdiagnosis were associated with anxiety, frustration, and stress, which affected the psychological dimension.

Even when the disease is diagnosed, finding a competent specialist can be a major problem. The psychological dimension of caregivers’ QOL is also affected, as caregivers face obstacles due to the rarity of the disease and are confronted with the lack of knowledge of healthcare providers. As von der Lippe et al. have found, the lack of knowledge about the rare disease can lead to delayed diagnosis, incorrect treatment or denial of services, all of which can have a negative impact on caregivers’ QOL [ 78 ]. Spencer-Tansley has also found that interactions with healthcare providers have a negative impact on mental health [ 72 ], and usually lead to stress, frustration and anxiety [ 17 , 63 ]. Many caregivers report that physicians are confronted with the disease for the first time and have no treatment plan for the disease, that they have no information about possible support groups, and that caregivers usually have more information than providers. Because of this, caregivers feel more responsible and have emotional reactions such as loneliness and insecurity related to the social dimension of QOL. An additional stressor for caregivers is the lack of involvement of healthcare providers. This is also a reason why they feel abandoned and frustrated, which affects both the psychological and social dimensions of QOL. The difficulty of finding a provider may be complicated by the fact that rare diseases can affect multiple organ systems. The number of specialist clinics is limited and they are located in regional centres [ 4 ] and can therefore be far away, requiring caregivers to travel long distances. This can place an additional strain on caregivers’ financial resources. Previous studies of thyroid cancer survivors also suggest that financial hardship and negative financial events are associated with poorer QOL [ 55 ].

We found that caregivers who connected with other peers online had access to information and emotional support. This is consistent with previous research on breast cancer patients that both social support from other patients can improve QOL [ 48 ].

A recurring observation in all countries analysed in this review is the predominant involvement of mothers as primary caregivers. Regardless of cultural context, mothers were the main caregivers, indicating a universal caregiving role. This finding is consistent with the comprehensive cross-cultural study by Weisner and Gallimore, who analysed data from 186 societies worldwide and found that mothers, along with female adult relatives and female children, predominantly assumed the role of primary caregiver for infants and young children [ 80 ].

Studies from Germany [ 13 ], Spain [ 12 ], Australia [ 56 ], Canada [ 49 ], Brazil [ 31 ] and Italy reported lower levels of social support, which may mean that participants from these Western countries, known as more individualistic cultures, may prioritise personal autonomy over collective caregiving tasks or may simply not have the ability to rely on family due to their schedules. This observation is consistent with the findings of Humphrey and Bliuc, who found that while individualistic traits such as personal fulfilment and freedom of expression can enhance psychological well-being, other aspects of individualism such as limited social support, competitiveness and social comparison may contribute to a decline in social relationships and mental health in Western populations in recent decades [ 37 ]. This could also explain the reliance on formal care services instead of family support mentioned in the Australian (Mori et al., 2017) and Canadian [ 22 ] studies could indicate cultural norms or societal structures that favour formalised care services over informal support networks, or simply the availability of these services that have yet to be developed in other countries.

In contrast, Nigerian caregivers reported a medium to high levels of perceived social support, indicating a more supportive social environment for caregivers in this cultural context [ 1 ]. Cultural factors such as strong family ties, community support networks or cultural norms that emphasise collective responsibility for caregiving may contribute to the higher levels of social support observed among Nigerian caregivers. In Nigeria, as in many other African countries, social support from the extended family is taken so much for granted that it is commonly referred to as the “African extended family system” [ 23 ].

This review compiled detailed information on the impact of caring for people with rare diseases on caregivers’ QOL, with a particular focus on their experiences of accessing healthcare services for the people with rare diseases they care for. It is clear that, caregivers of people with rare diseases face many unique issues and should be better supported to alleviate their burden. This study shows that healthcare systems need new strategies, as the current healthcare systems often leave it up to caregivers to become rare disease experts and advocate for to access to treatment and help. This responsibility should not be left in the hands of caregivers but, needs to be addressed systematically. By highlighting the impact of barriers to accessing healthcare services, we wanted to encourage policy makers and care providers to develop new strategies to support caregivers and improve health outcomes.

Furthermore, the consistency of our scoping review with previous studies by Boettcher et al. and Pelentsov et al. [ 14 , 62 ] emphasises the consistency of the challenges faced by caregivers in different contexts. While Pelentsov et al. focused primarily on the needs of parents of children with rare diseases, the parallels that emerge from their findings are strongly consistent with the challenges we identified in our study. This consistency highlights the universal nature of the challenges of caring for people with rare diseases and emphasises the need for comprehensive support systems tailored to the specific needs of carers around the world.

Study limitations and strengths

Our study has some potential limitations. First, the search strategy was limited to English-language studies. Therefore, there may be other literature that is equally relevant to the area of QOL and access to health services but may have been overlooked. Although the inclusion of articles in other languages would likely increase the selection of relevant articles, the scientific world tends to publish as much as possible in a single (English) language. The selection of articles was primarily made by one reviewer, but in cases of doubt an independent review was conducted. Also, due to the search strategy, we may have excluded many rare diseases, so QOL and access to healthcare may not be well represented for all diseases. However, this limitation was addressed by a manual search of the reference lists of included studies, which allowed us to access many studies published under other search terms.

We found that in most of the studies we examined, the voices of female caregivers were present. Less is known about the experiences and challenges faced by male caregivers. The literature often emphasises the perspective of female caregivers, so we do not understand how male carers manage their role, cope with stress and interact with healthcare systems. We do not assume that caregivers are homogeneous. Therefore, caregiving and its relationship to gender and coping must be adequately assessed to provide an accurate description of the differences between men and women in relation to this phenomenon.

The included studies that used a qualitative design utilised purposive sampling, i.e., recruitment of participants focused on sources where caregivers of children with rare diseases were active, such as hospitals and rare disease support groups. This meant that participation was limited to those who had more connections to services and peer support. Therefore, it is possible that other perspectives and experiences of services were not well represented.

On the other hand, the study also has some important strengths. As far as we know, this is one of the few studies that examines access to health services among rare disease caregivers, focuses on caregivers’ quality of life, and examines how QOL is affected through the lens of barriers to accessing healthcare. This review also includes all known research in selected bibliographic databases. The strengths of this literature review lie in its methodological and systematic approach, that explores the experiences of caregivers of people living with rare diseases from both qualitative and quantitative perspectives. The review provides insights into the complexities of caring for people with rare diseases and highlight many areas for improvement in the future to enable better planning of health care and other services.

Implications for practice

These findings may help to understand the problems associated with caring for people with rare diseases. This information could help service providers to better understand and help caregivers of people with rare diseases to appropriate support. It can help primary care physicians by providing information about the needs of caregivers, such as the need for continuity in dealing with diagnostic uncertainty and the provision of an empowering and collaborative approach.

The review emphasises the importance of prioritising carers of people living with rare diseases in Slovenia, as they face very different challenges to carers of older people, who already receive more attention [ 15 , 60 ].

Future research

Future research should focus on examining cultural or regional differences in the impact of rare diseases on caregiver QOL and access to healthcare. Further research could focus on examining the impact of rare diseases on caregiver’s QOL with treatable diseases comapred to those without treatment. It might also be interesting to examine at how the needs of caregivers change over time. Further research should also consider the use of longitudinal studies and larger samples to investigate the impact of care on QOL. Studies such as the one by Rotar-Pavlič et al. study on the experiences and feelings of informal caregivers of elderly in Slovenia and the challenges and difficulties they face in the society [ 60 ] would also be welcome.

Caregivers’ QOL is impaired compared to parents with healthy children, parents of children with chronic diseases, and compared to normative values. Female caregivers appear to be more affected than male caregivers. We found that the physical, psychological, and social dimensions of caregivers’ QOL are most affected. Many factors seem to influence caregivers’ QOL. Caregivers of people with rare diseases have many common experiences in accessing healthcare. They struggle with lack of information, diagnosis, misdiagnosis, access to services, lack of engagement with healthcare providers and lack of treatment options. Barriers to accessing health care appear to affect caregivers’ QOL. Delays in diagnosis and lack of information can lead to increased anxiety and stress, which in turn can affect caregivers’ QOL, particularly the psychological and social dimensions. Peer support appears to be a great help in obtaining information about health services and provides emotional support. In summary, our findings reveal consistent patterns in the QOL of caregivers across different rare disease diagnoses and healthcare systems and highlight that caregivers of people with rare diseases face common challenges in different contexts.

Data availability

Not applicable.

Abbreviations

• Quality of life

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Acknowledgements

Constructive comments from Dr. Špela Miroševič from the Department Family medicine from Medical faculty, University of Ljubljana are gratefully acknowledged.

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. TČ was supported by the Slovenian Research Agency (Research in the Field of Public Health, P3-0339).

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TČ was responsible for conceptualizing the scoping review study and defining the research objectives and scope. TČ conducted a systematic literature search in various databases, screened relevant articles and extracted data from appropriate studies. TČ also conducted the data synthesis and analysis. In addition, TČ wrote the first version of the manuscript and coordinated the contributions of all co-authors. LZK played an important role in the scoping review by providing valuable insights during the planning phase of the study. They actively participated in refining the research questions, identifying appropriate inclusion and exclusion criteria and discussing the overall structure of the article. LZK, critically reviewed the manuscript, and offered valuable suggestions to improve the clarity and presentation of the findings. DRP was involved in monitoring the progress of the Scoping Review, providing constructive feedback throughout the research process and contributing its expertise in the field. In addition, DRP was instrumental in critically reviewing and revising the manuscript to ensure the accuracy and completeness of the information presented. ET’s critical review of the manuscript improved the language and structure, resulting in a more coherent and effective final version. ET suggested improvements that strengthened the overall narrative and improved the clarity and visual appeal of the article, making it more accessible to readers. All authors critically reviewed and approved the final version of the manuscript before submission.

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Černe, T., Kragelj, L.Z., Turk, E. et al. Experiences of quality of life and access to health services among rare disease caregivers: a scoping review. Orphanet J Rare Dis 19 , 319 (2024). https://doi.org/10.1186/s13023-024-03327-2

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Received : 02 August 2023

Accepted : 18 August 2024

Published : 31 August 2024

DOI : https://doi.org/10.1186/s13023-024-03327-2

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Patterns of the Health and Economic Burden of 33 Rare Diseases in China: Nationwide Web-Based Study

Affiliations.

• 1 Jockey Club School of Public Health and Primary Care, The Chinese University of Hong Kong, Sha Tin, China (Hong Kong).
• 2 International Centre for Evidence in Disability, Faculty of Epidemiology and Population Health, London School of Hygiene & Tropical Medicine, London, United Kingdom.
• 3 Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.
• 4 Clinical Big Data Research Center, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.
• 5 Department of Cardiology, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China.
• PMID: 39190906
• DOI: 10.2196/57353

Background: Rare diseases (RDs) affect millions of individuals collectively worldwide, contributing to significant burdens on patients and families in various aspects. However, there is a lack of evidence on the underlying patterns of burdens among diverse RDs for informing targeted social and health policies to address the unmet needs of this vulnerable population.

Objective: This study aimed to examine the underlying patterns of the health and economic burden of 33 different RDs in China and identify the potential determinants.

Methods: A nationwide internet-based cross-sectional survey was conducted in China between 2019 and 2020. Physical and mental health burden was measured by health-related quality of life. Economic burden was evaluated based on the proportions of direct medical, direct nonmedical, and indirect costs relative to household income. We used cluster analysis to identify patterns of health and economic burdens and conducted multinomial logistic regression to explore potential predictors of cluster membership.

Results: The study included 8454 adults and 8491 children affected by 33 RDs. The following 3 clusters were identified: "extremely high burden" (representing 92/8454, 1.1% and 19/8491, 0.2% of adult and pediatric patients, respectively), "overall high burden" (5933/8454, 70.2% and 4864/8491, 57.3%, respectively), and "overall low burden" (2429/8454, 28.7% and 3608/8491, 42.5%, respectively). Wilson disease, Marfan syndrome, and Langerhans cell histiocytosis more likely resulted in an "extremely high burden" than others. Poverty was significantly associated with being in this extremely high burden group. Diseases causing neuromuscular symptoms and requiring long-term treatment (eg, amyotrophic lateral sclerosis, spinocerebellar ataxia, and Dravet syndrome) were prevalent in the "overall high burden" group. Key predictors of this group included older age, lower socioeconomic status, diagnostic delay, and comorbidity.

Conclusions: This study provides novel and valuable evidence on the burden of RDs in developing regions like China. The findings reveal significant disparities in the impact of RDs, emphasizing the need for targeted health care interventions and policies.

Keywords: China; burden; economic; pattern; quality of life; rare disease.

©Jiazhou Yu, Shanquan Chen, Huanyu Zhang, Shuyang Zhang, Dong Dong. Originally published in JMIR Public Health and Surveillance (https://publichealth.jmir.org), 27.08.2024.

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Breakthrough research identifies key microenvironments linked to kidney injury and disease

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A study published in  Nature Communications  provides new insight into how damaged cells interact within disease-promoting microenvironments following acute kidney injury, or AKI. With limited treatment options, AKI frequently progresses to chronic kidney disease (CKD), which affects more than 1 in 7 U.S. adults-;an estimated 37 million people.

The new findings may contribute to future efforts to prevent CKD, which can lead to kidney failure. 

The study brought together scientists from Andy McMahon's lab at USC and Long Cai's lab at Caltech, with support from a USC Broad Innovation Award that funded the cross-institutional research collaboration. 

In the study, co-first authors Michal Polonsky from Caltech and Louisa Gerhardt from USC, leveraged a cutting-edge tool, called seqFISH, developed in the Cai laboratory. With this tool, researchers can gather information about genetic activity and study cellular interactions in intact kidney tissue in mice with AKI. This allowed the scientists to analyze the precise expression of over 1,000 genes in the injured kidney tissue, identify microenvironments associated with injury, and predict cellular interactions associated with the progression to CKD.

" Dr. Cai's seqFISH technology provides unprecedented insight into the cellular interplay in the kidney following injury, " said McMahon, who is the W.M. Keck Provost and University Professor of Stem Cell Biology and Regenerative Medicine at USC and will join the faculty of Caltech in October. " A better understanding of kidney injury is needed to identify targets for preventing the progression to chronic kidney disease ."

Cai, who is a Professor of Biology and Biological Engineering, added: "We're thrilled that our technology has enabled a deeper understanding of kidney injury and disease. This study exemplifies the importance of cross-institutional and cross-disciplinary collaborations to advance biomedical research." 

In the kidney's outermost layer, the scientists identified a likely pathological microenvironment, which they dubbed "ME-5." This microenvironment contained a type of kidney cell particularly vulnerable to injury, known as a proximal tubule cell or PT. 

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In ME-5, injured PTs and neighboring connective tissue cells, known as fibroblasts, exchanged signals that could drive injury progression. Key signals involved the genes Clcf1 and Crfl1, which encode proteins that can promote inflammation and fibrosis, or scarring. Additional signals detected in ME-5 could contribute to recruitment of immune cells, thereby further contributing to development of inflammation, fibrosis and other pathological changes.

The scientists also identified another important injury-associated microenvironment, which they named "ME-16," featuring aggregations of various immune cell types called tertiary lymphoid structures that are known to contribute to chronic inflammation. Rather than being confined to a specific region of the kidney, ME-16 was distributed throughout the injured organ. 

To share their discoveries, the team constructed a comprehensive map of cellular, molecular, and structural changes following AKI, which refines our understanding of the transition to CKD. This map is publicly available at  https://woldlab.caltech.edu/ci2-celltiles/Mouse-Kidney-Fibrosis/ .

Additional co-authors are Kari Koppitch from USC; Jina Yun, Katsuya Lex Colón, Henry Amrhein, Matt Thomson, and Barbara Wold from Caltech; and Shiwei Zheng and Guo-Cheng Yuan from the Icahn School of Medicine at Mount Sinai.

In addition to the USC Broad Innovation Award, the research was supported by the National Institutes of Health (grant NIDDK UC2DK126024), German Research Foundation (grant GE 3179/1-1), and German Society of Internal Medicine (DGIM) Clinician Scientist Grant.

Keck School of Medicine of USC

Polonsky, M., et al. (2024). Spatial transcriptomics defines injury specific microenvironments and cellular interactions in kidney regeneration and disease.  Nature Communications . doi.org/10.1038/s41467-024-51186-z .

Posted in: Cell Biology | Medical Research News | Medical Condition News

Tags: Acute Kidney Injury , Biotherapeutics , Cell , Cell Biology , Chronic , Chronic Kidney Disease , Fibrosis , Genes , Genetic , Genomics , Inflammation , Kidney , Kidney Disease , Kidney Failure , Laboratory , Medicine , Research , Technology , Transcriptomics

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Clinical Research Coordinator

• Madison, Wisconsin
• SCHOOL OF MEDICINE AND PUBLIC HEALTH/RADIOLOGY-GEN
• Partially Remote
• Staff-Full Time
• Staff-Part Time
• Opening at: May 31 2024 at 09:55 CDT
• Closing at: Sep 17 2024 at 23:55 CDT

Job Summary:

The Department of Radiology, University of Wisconsin - Madison, School of Medicine & Public Health is seeking a Clinical Research Coordinator (CRC) to help advance exciting medical imaging and disease-focused projects! The CRC works as part of a team, which includes physicians, PhD researchers, imaging staff, and other research support staff, to support and advance a portfolio of interesting research projects. Radiology projects focus on anything from the development of novel imaging techniques, to work towards understanding and curing disease. The role of a CRC is quite varied - an average day could include responsibilities ranging from recruiting and enrolling subjects into a study, to coordinating and conducting actual subject visits, to collaborations with the study team on a wide variety of topics.

Responsibilities:

Institutional statement on diversity:.

Diversity is a source of strength, creativity, and innovation for UW-Madison. We value the contributions of each person and respect the profound ways their identity, culture, background, experience, status, abilities, and opinion enrich the university community. We commit ourselves to the pursuit of excellence in teaching, research, outreach, and diversity as inextricably linked goals. The University of Wisconsin-Madison fulfills its public mission by creating a welcoming and inclusive community for people from every background - people who as students, faculty, and staff serve Wisconsin and the world. For more information on diversity and inclusion on campus, please visit: Diversity and Inclusion

Preferred Bachelor's Degree

Qualifications:

Required - Research experience. Preferred - At least one year experience with clinical research studies. - Experience working within a higher education setting. - Prior experience working within a healthcare setting. The ideal candidate will have strong attention to detail and ability to think critically and/or strategically to solve problems.

Full or Part Time: 80% - 100% This position may require some work to be performed in-person, onsite, at a designated campus work location. Some work may be performed remotely, at an offsite, non-campus work location. The incumbent must have schedule flexibility to occasionally work outside of standard 8:00AM- 5:00PM weekday hours. The position occasionally requires travel to other, local UW locations.

Appointment Type, Duration:

Ongoing/Renewable

Minimum $48,000 ANNUAL (12 months) Depending on Qualifications The starting full time salary for the position is $48,000 but commensurate with experience and qualifications. Actual pay is determined at hire and is based on experience and qualifications. Employees in this position can expect to receive benefits such as generous vacation, holidays, and sick leave; competitive insurances and savings accounts; retirement benefits. Benefits information can be found at ( https://hr.wisc.edu/benefits/ ).

Additional Information:

Applicants for this position will be considered for the titles listed in this posting. The title is determined by the experience and qualifications of the finalist. This position has been identified as a position of trust with access to vulnerable populations. The selected candidate will be required to pass an initial caregiver check to be eligible for employment under the Wisconsin Caregiver Law and every four years. University sponsorship is not available for this position, including transfers of sponsorship. The selected applicant will be responsible for ensuring their continuous eligibility to work in the United States (i.e. a citizen or national of the United States, a lawful permanent resident, a foreign national authorized to work in the United States without the need of an employer sponsorship) on or before the effective date of appointment. This position is an ongoing position that will require continuous work eligibility. UW-Madison is not an E-Verify employer, and therefore, is not eligible to employ F1-OPT STEM Extension participants. If you are selected for this position you must provide proof of work authorization and eligibility to work.

How to Apply:

To apply for this position, please click on the "Apply Now" button. You will be asked to upload a current resume/CV and a cover letter briefly describing your qualifications and experience.

Amanda Joncas [email protected] 608-262-2716 Relay Access (WTRS): 7-1-1. See RELAY_SERVICE for further information.

Official Title:

Clin Res Coord I(RE015) or Clin Res Coord II(RE016)

Department(s):

A53-MEDICAL SCHOOL/RADIOLOGY/RADIOLOGY

Employment Class:

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