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.