Rare Disease Patients Tell Researchers Exactly What Digital Health Tools They Need Most

For the hundreds of millions of people worldwide living with a rare disease, the burden of illness extends far beyond symptoms. It stretches into years of diagnostic limbo, fragmented medical records scattered across institutions, exhausting journeys to distant specialists, and the constant, invisible labor of coordinating care among clinicians who may never speak to one another. A new mixed-methods study published in PLOS Digital Health by Anita Burgun, Christina Khnaisser, Roxanne Dault, and Jean-François Ethier offers one of the most detailed portraits yet of what patients and their caregivers actually want from digital health technology, and the answers cut against some of the industry’s most cherished assumptions about what innovation should look like.

The research team surveyed 149 patients and caregivers affected by rare diseases and then conducted follow-up focus groups with 15 participants, using a design that allowed quantitative priorities to be explored in depth through qualitative discussion. This dual approach matters because rare disease care is notoriously difficult to study: patient populations are small, dispersed, and heterogeneous, and individual conditions may affect only a handful of people in an entire country. By aggregating needs across conditions, the researchers were able to identify common structural failures in how care is delivered and supported, failures that digital tools could, in principle, address at scale.

The single most prominent priority to emerge from the data was the centralization of health data. Rare disease patients typically accumulate records across hospitals, provinces or states, and even countries, because the specialists qualified to evaluate them are few and far between. Each transfer of care risks losing critical information, and each new clinician must reconstruct a medical history from scratch. Participants in the study described centralized health data as essential, a foundation on which nearly every other improvement depends. Without a unified record that travels with the patient, even the most sophisticated app or platform remains an island of information in an archipelago of fragmentation.

Closely allied to centralization was a second priority that has received far less attention from commercial developers: support for patient-generated data. People living with rare diseases often know their own conditions better than any single clinician does, tracking symptoms, medication effects, triggers, and functional changes over months and years. Yet this carefully gathered information rarely enters the formal medical record in a usable form. The study found strong demand for tools that would allow patients to contribute their own observations to their care in structured ways, transforming lived experience into data that clinicians can review and act upon. This is a technically demanding ask, requiring validation standards, interoperability, and clinical workflows that treat patient-reported information as legitimate evidence rather than anecdote.

Communication and information exchange with clinicians ranked as another central concern. Participants described the frustration of waiting weeks for responses to urgent questions, repeating the same explanations to successive providers, and lacking any reliable channel through which their care team could coordinate. The researchers found that respondents wanted improved two-way exchange, not merely portals for viewing test results. In the rare disease context, where a patient’s care may involve a dozen specialists across multiple disciplines, the absence of a shared communication infrastructure means the patient or caregiver frequently serves as the de facto coordinator, carrying information between appointments and reconciling contradictory advice on their own.

Telehealth emerged as one of the most valued technologies in the entire study, with participants emphasizing its power to reduce travel and simplify daily life. For rare disease families, travel is not an inconvenience but a structural barrier: specialist appointments can require hours or days of journeying, time off work, and significant expense, all for consultations that may be brief. The COVID-19 pandemic demonstrated at population scale that remote consultation is technically feasible for a large share of care, and this study confirms that for the rare disease community the appetite for telehealth has not diminished. Participants framed it not as a substitute for all in-person care but as a targeted relief from the geography of rarity, reserving travel for examinations and procedures that genuinely require physical presence.

Two more specialized needs stood out in the findings: patient-centered tools for diagnosis and for emergency situations. The diagnostic odyssey, the years-long journey from first symptoms to confirmed diagnosis, is one of the defining cruelties of rare disease, with patients often seeing many physicians before answers emerge. Participants expressed interest in digital tools that could accelerate or support this process, whether by helping organize and present their history to new clinicians or by surfacing relevant specialist knowledge. Emergency care presents a different but equally acute problem: a rare disease patient arriving at an emergency department may be treated by clinicians who have never encountered the condition, with potentially dangerous consequences. Tools that put critical, condition-specific information into the hands of emergency providers at the moment of care were described as highly valuable, a use case where minutes and accurate information can change outcomes.

Looking forward, the study’s participants articulated a clear vision for the next generation of digital health solutions. They wanted tools that integrate system-wide data rather than adding yet another silo, and they expressed interest in artificial intelligence as a component of future solutions, a notable signal given the anxieties that AI has generated elsewhere in medicine. Crucially, they emphasized that technology should provide support during stressful situations, the moments of crisis and uncertainty when the difference between a usable tool and an unusable one is starkest. The researchers summarize the direction succinctly: future digital solutions should integrate system-wide data, incorporate AI, and provide support during stressful situations, ultimately reducing patient burden rather than adding to it.

The study is equally candid about the barriers standing between this vision and reality. The authors identify technological, regulatory, and resource-related obstacles that must be addressed to advance patient-centered digital solutions for rare diseases. Interoperability standards remain incomplete, meaning that even well-designed tools struggle to exchange data with hospital systems. Regulatory frameworks for software that touches diagnosis and clinical decision-making are complex and vary across jurisdictions, raising the cost and timeline of development. And the economics of rare disease technology are unforgiving: small, dispersed user populations make it difficult to recoup investment, which is precisely why patient needs in this space have historically been underserved by the market. The study’s identification of these barriers is not a footnote but a core finding, an argument that innovation in this field requires policy development and resource commitments alongside engineering.

What makes the research resonate beyond the rare disease community is the clarity of its central message: patients and caregivers are not asking for novelty, they are asking for coordination. The priorities that dominated the survey responses, centralized data, patient-generated data, better clinician communication, telehealth, and emergency support, are all variations on a single theme, the reduction of the enormous coordination burden that rare disease families currently carry alone. Respondents expressed strong interest in technologies that place patients at the center of care and improve coordination across providers, and the study’s authors frame these as actionable targets for innovation that can guide future research and policy development. In a digital health landscape crowded with wellness apps and consumer gadgets, the rare disease community has offered something rarer still: a precise, evidence-based specification of what technology must actually do to change lives.

Subject of Research: Digital health management needs and priorities of rare disease patients and their caregivers

Article Title: Exploring needs and priorities in digital health management for rare disease patients and their caregivers: A mixed-methods study

Article References: Burgun, A., Khnaisser, C., Dault, R., & Ethier, J.-F. (2026). Exploring needs and priorities in digital health management for rare disease patients and their caregivers: A mixed-methods study. PLOS Digital Health, 5(9), e0001240. https://doi.org/10.1371/journal.pdig.0001240

Image Credits: AI Generated

DOI: 10.1371/journal.pdig.0001240

Keywords: rare diseases, digital health, telehealth, patient-generated data, health data centralization, caregivers, patient-centered care, diagnostic odyssey, artificial intelligence, healthcare coordination, mixed-methods study, PLOS Digital Health