Doctor online with patient, filling medical form; rare disease patient data concept

Specialty Pharmacy Data: Harnessing Rare Disease Patient Data From Diverse Sources

Each stage in a rare disease patient’s diagnosis and treatment journey generates useful information about the disease, its presentation and its responses to various treatments. Currently, however, collecting rare disease patient data has proceeded haphazardly, and even these haphazard approaches do not apply equally to all rare diseases.

Patients generate data through interactions with providers, pharmacies, payers and distributors. By collecting all this information in one place, Hub technology can help participants in the patient journey generate deeper insights — driving research and improving treatments.

Fragmented Rare Disease Patient Data Across the Patient Journey

When it comes to rare diseases, patients are interested in sharing information. “Patients and families living with rare disease have a high willingness to partake in research and data sharing that can advance treatments and cures for their disease,” writes Michael Hund, CEO of medical research organization EB Research Partnership.

Patients generate valuable rare disease patient data throughout their journeys, from diagnosis and treatment by providers to communications with payers, visits to pharmacies, and more. This data includes clinical information, genetic test results, treatment history, outcomes and quality of life assessments. To date, opportunities for these patients to share what they know — much less to see their data coordinated across their patient journey — have been limited.

Although patient data proliferates, comprehensive approaches to that data remain scarce. “The rare disease community has reached a critical point in which its increasingly fragmented structure and operating models are threatening its ability to harness the full potential of advancing genomic and computational technologies,” write Nathan Denton and fellow authors in a 2022 Orphanet article.

Even where rare disease registries exist, they often have a limited scope focused on a single disease or region. Rare disease registry data collection methods, quality, and accessibility also vary widely across different registries, reducing their usefulness for research. A study of 74 rare disease registries in Australia, for example, “found considerable heterogeneity…especially with regards to data collection, scope and quality of registries,” write Rasa Ruseckaite and fellow researchers in a 2023 article published in the Orphanet Journal of Rare Diseases.

Ruseckaite et al. suggest that a “national approach” to rare disease registries would improve the interoperability and accessibility of this information. Yet government participation is not the only option for collecting and streamlining the many data sources available — nor is it necessarily the best method for helping participants in the rare disease journey connect with one another to improve day to day patient treatment.

Additionally, a “hub” type environment with case coordination features allows for the patient services team to make sure the patient gets to the treatment event successfully and that all parties in the care of the patient are looking at the same information.

Tablet with patient personal information; rare disease patient data concept

Connecting the Dots: Integrating Rare Disease Patient Data

“Each member of the rare disease community plays a central role because of the often low awareness of these conditions and the high degree of disease complexity and comorbidities,” write Simon Alfano and fellow researchers at McKinsey.

Participants in the rare disease journey can better understand patients’ needs and progress toward better outcomes if they have access to a comprehensive view of the data generated by each of their fellow participants: providers, pharmacies, payers and distributors.


For patients, the “face” of their rare disease journey is often their provider. Their primary care physician and relevant specialists become the person patients see to discuss and manage their conditions.

Providers thus offer a potentially rich source of information about rare disease patients. Providers assess the patient one on one, in person, developing a sense of the patient’s personality and resilience as well as their medical needs. Providers also maintain records of treatments ordered and other key information.

For providers, a single accurate source of data is essential to understand a patient’s journey — and to join that journey if asked to consult or to provide a specialist viewpoint.

Accurate provider data can provide support for pharmacies and pharma manufacturers seeking to launch new treatments for rare diseases as well. “Whenever we launch in a country, we need accurate data for HCPs and specialties. If you don’t have accurate data, you won’t build trust, and users won’t adopt the technology,” says Elodie Privat, EMEA sales analytics and operations lead at Novartis Gene Therapies.


Providers build relationships with rare disease patients throughout the patient’s diagnosis and treatment journey. Pharmacies and pharmacists may build these relationships as well, with a focus on patient treatment specifically.

Because pharmacies focus on treatment, pharmacists need information from providers and payers to carry out their specialized role. In addition to this information, both pharmacies and pharma companies depend on Hub data to obtain a global view of a patient’s journey and to ensure they can deliver functional insights into specialty drug programs.

Specialty pharmacies can serve as crucial hubs for aggregating real-world specialty pharmacy data on rare disease treatments and outcomes. This specialty pharmacy data supports prior authorization, distribution, adherence strategies and safety monitoring for new rare disease therapies.


Payers play an essential role in connecting patients to treatment for both common and rare diseases, as well as for comorbid conditions that often accompany rare disease. Yet payers can be hampered by a lack of information.

For payers, communication with providers is typically limited to billing codes and preauthorization forms. Communication between payers and pharmacies may contain even less information.

Better quality data sets can allow payers to coordinate care management and improve the value of rare disease treatment, writes healthcare strategist Mayur Yermaneni in Health Data Management. By combining provider and pharmacy data, payers develop a more comprehensive understanding of a patient’s needs — positioning themselves to participate in more effective value-based care.


Distributors of rare disease treatments often perform a delicate balancing act. How much of a particular treatment must be sent to which place, and when? Without a clear understanding of the patient journey, distributors must make their shipments in a trial-and-error fashion, an approach that can quickly become impossible to maintain.

WIth access to a clear understanding of the patient journey, distributors can better manage their own supply chains. They can also identify places in which patients need more support and step in, write Francine R. Kaufman and Tony Vahedian in MedCity News. Doing so improves the quality of care for patients and strengthens the relationships between patients, providers, pharmacies and distributors.

Each of these participants possesses potentially useful data for the understanding and treatment of rare diseases. “Unfortunately, those data are siloed, non-standard, and sometimes not usable due to data quality issues,” writes Ramona L. Walls, executive director of data science at the Critical Path Institute. Tackling this challenge is crucial to ensure that rare disease patients receive the treatment they need when they need it.

Another challenge is privacy considerations around patient data. While critical for research and care improvement, rare disease patient data also requires careful de-identification and consent protocols to protect patient privacy.

Doctor collecting information from patient; rare disease patient data concept

Standardizing Rare Disease Registries to Improve Data Quality

Data offers a new way forward for disease treatment. “Data-driven innovations are unlocking answers about rare diseases—as well as more common diseases—faster than ever before,” writes Joni L. Rutter, director of the National Center for Advancing Translational Sciences (NCATS).

One example is the Genetic and Rare Diseases (GARD) Information Center, whose website is currently the focus of an NCATS upgrade. Once complete, the upgrade will allow the GARD website to search MedlinePlus, Unified Medical Language System, and NCBI MedGen to offer a one-stop search source for research on rare and genetic diseases, Rutter writes.

NCATS is not the only organization focused on unlocking the power of aggregated data. Tools like the Hub also seek to collect information throughout the patient journey, streamlining treatment and improving insights into rare diseases.

To understand exactly how treatments work — or don’t — for patients, no single source of patient data will do. Instead, participants need to see the entire patient journey, from first provider encounter to patients’ experiences with a particular treatment. “End-to-end patient data helps us map the most typical path of treatment for those with rare forms of autoimmune conditions,” writes Chris Mutz, head of rare disease at ANI Pharmaceuticals.

Yet just as patients may struggle to manage multiple communications with providers, pharmacies, and payers, researchers may become quickly overburdened by too many individual data sources. Mutz emphasizes the need to create “a single source of information.” Sharing information about patients and the rare disease journey is essential for other participants in that journey to coordinate their efforts toward the common goal of patient treatment, Mutz notes.

We live in a world awash in data. Each rare disease patient generates data in every interaction with providers, pharmacies, payers, and distributors. By linking clinical, genomic, and outcomes, rare disease patient data across sources can uncover new correlations, risk factors, and personalized treatment responses for rare disease patients.

When collected into a single Hub source with data aggregation, this information can provide more complete insights — driving better treatment for current patients and better solutions for future generations.

Images used under license by