Group of women standing close together and laughing; rare disease communities concept

Engaging With Rare Disease Communities Provides Useful Qualitative Data

Patients’ experiences during diagnosis, treatment and administrative tasks (such as navigating payer rules) all impact their adherence to medication protocols.

While healthcare industry participants are generally aware of the importance of patients’ experiences, the experiences themselves remain a black box. Rare disease patient communities, including mutual support and advocacy groups, offer a source of useful qualitative data on patient experiences.

Leveraging digital tools can help providers and other healthcare participants gather information from patients to improve patient care and treatment compliance.

The Growth of Rare Disease Communities

Patient advocacy groups arose to fill a knowledge gap in rare diseases — namely, to help connect patients to information about specific diseases, including treatment options.

From their roots as meeting grounds for people with common concerns, patients, advocates and caregivers “have become repositories of knowledge and experience regarding the complexities of each disease and have matured into important resources for reputable information and support,” write Mukund Nori and fellow researchers in Future Rare Diseases.

Today, patient advocacy groups do more than educate patients. They also advise legislators and regulatory agencies and gather data. Acting as the voice for patients in the aggregate, patient advocacy groups connect with funding sources, researchers, providers, payers and other participants in the rare disease realm.

As patient advocacy groups grow, they gain more insight into patients’ needs and experiences. One continually recurring issue is the disparities in diagnosis, care and research for rare disease patients, as well as for marginalized patient communities.

The National Organization for Rare Disorders (NORD), an umbrella organization for nonprofit rare disease patient advocacy groups, has collected case studies from its member organizations in an attempt to understand disparities in rare disease healthcare. Researchers Debbie Drell, Ashanthi De Silva and Cornelia Lee recommend that clinicians and researchers collaborate with rare disease patient organizations to gather information.

“Researcher-advocate partnerships have reached an inflexion point, at which stakeholders may evaluate their achievements and formulate frameworks for future refinement,” write Christina Q. Nguyen, et al. in the Orphanet Journal of Rare Diseases (OJRD).

To create a successful evaluation, stakeholders will need access to high-quality data — much of which can be gleaned from patient advocacy groups and from patients themselves in the form of qualitative research.

Group of older people playing bingo; rare disease communities concept

Qualitative Data Available from Patient Communities

Providers, payers and pharmaceutical participants are generally aware that patient experiences are important to the treatment of rare diseases. Beyond this general awareness, little specific information is available.

For example, coordinating care provides better outcomes for rare disease patients. However, “we do not yet know which options and models of care coordination stakeholders prefer and which models may be appropriate in different situations,” write Holly Walton and fellow researchers in a 2022 article in the OJRD. Their study sought to gather information about patients’ care coordination preferences, based on qualitative data collection from patient communities.

Care coordination isn’t the only open question for patient communities and rare diseases. Researchers Gry Velvin, Thale Hartman and Trine Bathen examined understandings of patient involvement in rare disease research (PI-RDR) among Norwegian researchers. They concluded that “both the literature and researchers emphasized that PI-RDR is important for improving research quality and increas[ing] the public attention on rare diseases, but what constitutes effective PI-RDR still remain[s] unclear.”

These questions remain murky in part because effective means of gathering and harmonizing qualitative data from patients is underdeveloped or nonexistent. For instance, as researchers Moeko Isono, Minori Kokado and Kazuto Kato note in a 2022 study in PLOS One, “few studies have used a qualitative approach to directly examine how patients with rare disease obtain a diagnosis and why it takes many years.”

Qualitative studies that directly examine other patient experiences with rare disease, such as difficulties obtaining pre-authorizations, arranging payment or adhering to medication regimens, are also scarce.

Because rare disease communities often start or grow online, visiting these communities can provide a source of information. “Lean into any channel with the community talking, like Reddit, and you can get an understanding of not just what they’re talking about – but how they feel about it,” writes Julia Weiss, director of user experience and content strategy at Ogilvy Health.

Weiss recommends Reddit because its user account system provides the confidence of anonymity, while its method of dividing topics into subreddits makes it easier for healthcare industry participants to focus on specific rare disease communities.

large group of young adults putting their hands together; rare disease communities concept

Collecting and Organizing Patient Community Data

Because rare diseases appear in such low numbers among the population, patients who have rare diseases tend to be dispersed over wide geographical areas. Often, rare disease patients cannot gather in person, so they gather online instead.

The internet provides an essential site for patient community-building. It also provides an essential site for gathering qualitative patient information. Researchers Andrew A. Dwyer, Melissa Uveges, Samantha Dockray and Neil Smith leveraged the online discussion group format patients already knew. They used this format to launch virtual focus groups (FGs), then compared the results with in-person focus groups.

Compared to in-person focus groups, “virtual FGs appear to support the relative anonymity of the participants, resulting in richer discussion of highly sensitive, intimate topics,” write Dwyer and the research team. They suggest that the “validity and methodologic rigor” of online qualitative data collection via focus groups is comparable to that of in-person models.

Focus groups offer just one way to collect qualitative patient data — and they may not be ideal for collecting all data forms. To choose methods for collecting information from patient communities, research teams must clarify what information they wish to know.

Patient communities and advocacy groups can be a valuable source of many types of qualitative data, write researchers Annemieke Aartsma-Rus, Elizabeth Vroom and Daniel O’Reilly. Successful gathering of this data depends on several factors, including:

  • Choosing the right patient community or group.
  • Fostering two-way communication and education.
  • Setting realistic expectations.
  • Encouraging open and honest dialogues.

Collecting qualitative data on rare disease patients’ experiences is important. So is analyzing and coordinating that data effectively.

The impact of rare diseases on patients’ quality of life isn’t always fully understood. “There is then a need to consolidate knowledge on the economic, social, and quality of life impacts of rare diseases,” note Julien Delaye, Pasquale Cacciatore and Anna Kole in a 2022 article in Frontiers in Pharmacology.

One way to consolidate qualitative information about patients’ experiences is by using a single platform to connect patients, providers, pharmacies, pharma distributors, payers and other parties involved in the drug distribution and treatment process. When patients have access to a single platform, they can more easily track needed paperwork. They can also more easily report information about their treatment and needs, from financial concerns to medication side effects.

A unified platform can also help ensure that when patients share qualitative information, the data they generate is used to reach valuable insights. “It’s a special shame when data that get collected then become siloed,” says Ed Neilan, chief medical and scientific officer at the National Organization for Rare Disorders.

Patients want to see the information they offer used to improve care for themselves and for others who share their condition. When data is collected with an eye to interoperability, it can be used and shared more easily, producing the benefits patients wish to see.

As healthcare embraces patient-centric models, qualitative data about patient experiences is in high demand — but it’s also in low supply. Connecting with patient advocacy groups and rare disease communities and employing digital tools for remote communication can help healthcare participants better understand rare disease patients’ needs.

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