Five Ways Rare Diseases can Benefit from Digital Health Technology


Rare diseases present special challenges for patients, families and clinicians alike. Symptoms may be mistaken or assumed to be more common ailments. There is not enough searchable material online for lay people, as most of the data and information might be found only in medical journals which are expensive to obtain and hard to understand. Once diagnosed and reviewed by an expert, the disease might still be so rare that opinions from multiple expert/researchers are necessary- a scenario I have just encountered with a family member. A real-time registry technology utilizing the features described below represents in my view the ideal tool for rare diseases.

  1. Longitudinal studies. These are research methods in which the same people are studied over long periods of time. Advantages of this study design include the opportunity to examine natural histories of human behavior, disease emergence and progression, and the effects of various interventions over years and decades. Perhaps the most famous and impactful study of this type is the Framingham Heart Study which began studying a local population in Massachusetts in 1948 to determine risk factors for cardiovascular diseases. Much of our understanding of these risk factors is rooted in this study which continues even today. In 2002 the study began examining the third generation of the original participants! Studies of this nature are critical in understanding rare disease which require data pooled from as many patients as possible. What this study proved is that longitudinal studies are feasible over many decades and they can produce impactful results from accumulated data. Digital health tools today have the ability to collate data from huge patient populations real-time. In doing so, they can even result in the discovery of rare diseases This data needs to incorporate subjective data (via patient survey apps), remote patient monitoring data, and data derived from social media sites. In this way, a complete picture of the emerging disease can be painted.
  2. There is no bigger waste than important data which is stagnant, undiscoverable, or both. Analytics allow for any question to be answered when throwing a large data collection net out. The importance of this model is amplified with rare diseases. Analytics bring data to life because it is presented in useful and understandable ways and can, with some technologies, be customized spontaneously with regards to type of data collected or presentation. I’ve previously written about how analytics will change healthcare. The combination of longitudinal studies and analytics are very powerful and will result in patient registry data, health policy changes, and new treatment strategies. Those who embrace analytics most are payer-providers (Kaiser Permanente and Geisinger) and ACOs who appreciate the ROI of technology in patient outcomes and thus cost-savings. They have demonstrated the value of analytics. These same analytics can be made available in an open platform to providers, patients, and caregivers so that they might share this information and make adjustments in care, daily life, and life planning.
  3. Incorporation of genomics in registries. Genomics has played an important role in the discovery and ongoing expansion of rare disease knowledge bases. The US Department of Health and Human Services has a Genetics and Rare Diseases Information Center for the public and has established the Rare Disease Clinical Research Network which has over 20 rare disease research consortia. The need to directly incorporate genomics data into individual patient EHR records and portals is critical. This will facilitate the sharing of the complete array of data pertinent to these patients among providers and experts.
  4. Caregiver involvement. The proliferation and success of documentaries and films about rare diseases speaks to the human experience germane to all patients and caregivers in the arena of rare diseases. Frustration over the lack of treatments borne out of the lack of knowledge is a common thread. Many of these films demonstrate the importance of the shared experience. Social media groups in healthcare are proving essential tools in the absorption of information among caregivers. There are many benefits of online support groups and they are magnified when applied to those affected by rare diseases. Also prominent in the films is the benefit of seeking out experts with the most experience in treating the disorder. However, most often these experts are not encountered because of financial restraints (insurance payment, logistics) or the lack of knowledge of the local physician.
  5. Comprehensive communications and monitoring tools. Digital communication can take many forms. Firstly, it can involve the initial transmission of data or teleconference between a referring physician to an expert. It can also include messaging of symptom status with transmission of remote monitoring data between patients and clinicians, updates of developments in research or observations among researchers, or the exchange of messages among caregivers. Registry platforms with the ability to facilitate communications along with data including genomics are on the wish list for clinicians, geneticists, governmental agencies, patients and caregivers.

Rare diseases present many problems to patients and caregivers along the entire journey from pre-diagnosis to referral to an expert, to determining best care. The best care might not be yet determined because of the rarity of the disorder. However, a diagnosis and evaluation by an expert are critical. Registries if done properly can address all of these challenges as well as aiding the experts in determining best treatment. The technology is here. Let’s use it.

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About davidleescher

David Lee Scher, MD is Founder and Director at DLS HEALTHCARE CONSULTING, LLC, which specializes in advising digital health technology companies, their partners, investors, and clients. As a cardiac electrophysiologist and pioneer adopter of remote patient monitoring, he understood early on the challenges that the culture and landscape of healthcare present to the development and adoption of digital technologies. He is a well-respected thought leader in mobile and other digital health technologies. Scher lectures worldwide on relevant industry topics including the role of tech in Pharma, patient advocacy, standards for development and adoption, and impact on patients and healthcare systems from clinical, risk management, operational and marketing standpoints. He is a Clinical Associate Professor of Medicine at Penn State College of Medicine.
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6 Responses to Five Ways Rare Diseases can Benefit from Digital Health Technology

  1. Pingback: Five Ways Rare Diseases can Benefit from Digita...

  2. Avanish says:

    Hi David,

    It was an excellent article and hopefully I will encourage my near by people to help in this by putting up their experience and the cases they figured out. But there are many Big Challenge to this.

    1. First is the limited knowledge of Physicians (which you have already mentioned).
    2. Insufficient of fund to individual who can go for further in depth analysis of the disease.
    3. Lack of awareness and fear of society to make their experiences to public.
    4. These disease needs to be monitored very closely, so even if some hospitals or individuals are trying to finance and to monitor it then they face the negligence of patient.

    I do believe that There should some Proper arrangement for funding such type of disease and we should have a proper arrangement to monitor the day to day changes in patient behavior depending on the treatments.

    I believe that if we can make such arrangement then for sure we can keep eye on it and can make more people oriented. I know I don’t have that much of expertise as you have but I am expecting your view on it.

    Many Thanks, Avanish

    • Thank you for your comments, Avanish. Yes, funding is of utmost importance. In the USA, there has been of late significant increased interest in rare diseases from a pharmaceutical industry standpoint (understandably driven by commercial interests) as well as the NIH. Registries can significantly help both and more importantly help patients. I believe that lack of awareness is certainly an issue and registry pooling of data will help in that regard. I do not subscribe to your ‘negligence of patient’ view as I believe that patients in this arena and more importantly their caregivers are the most proactive people.

    • Thank you for your comments, Avanish. Yes, funding is of utmost importance. In the USA, there has been of late significant increased interest in rare diseases from a pharmaceutical industry standpoint (understandably driven by commercial interests) as well as the NIH. Registries can significantly help both and more importantly help patients. I believe that lack of awareness is certainly an issue and registry pooling of data will help in that regard. I do not subscribe to your ‘negligence of patient’ view as I believe that patients in this arena and more importantly their caregivers are the most proactive people.

  3. Timothy Miller says:

    It is exciting to see the influence of rare disease knowledge in the growing body of medical literature these days. As a neurologist with a long history of caring for patients & families with rare diseases, I took the step a little less than a decade ago to enter the biotech industry, while maintaining a clinical practice for several years. The situation allowed me to continue working in my field but also to explore ways in which education and registries could advance the medical communities ability to diagnose and offer the growing number of therapeutics that could lead to improved health outcomes for patients. The critical need in rare disease for disease and natural history data and a lack of sources for this data serving the rare diseases pushed the field toward heterogeneous registry-based projects. This, in the setting with or without developed therapeutics, allows for the generation of data and hypotheses that underscore many of the most important advances in diagnosis and care It is clear to me that as “big data” sources are developed and linked, access to these data should not be planned for broad audiences and not linked solely to pay as you play systems. We must follow the improving trends with regard to patients willingness to share their data when they believe it will help others and continue to push the “societal good” that could be realized when we become less protective of our personal health characteristics and data. TM, Biotech Executive

    • I thank you for your comment and dedication to your own and other patients. We indeed live in exciting times in which patients can do more for themselves with the right guidance and tools than physicians might.

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