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Why The Future of Rare Disease Care is Digital


There are more than 6,000 rare diseases, according to EURORDIS, the leading European rare disease organization. Of those, 80% are of a genetic origin, with many chronic and life-threatening. Worse, less than 10% of those suffering from such diseases receive treatment. In any definition of unmet need, this population would be included. The good news is that the situation is changing for the better—thanks to life-saving innovation by pharma/biotech, and by the rapid rise of digital health.

While the underlying pathophysiologies of these rare diseases are nearly as diverse as grains of sand on a beach, three hallmarks of rare disease can be applied widely. Each of the hallmarks is primed for digital health solutions that create recognition, activation, and connection for patients who deserve better care.

The Harmful Toll of Misdiagnosis

According to a report from Shire Pharmaceuticals (now a part of Takeda), sufferers of rare disease average more than seven visits across nearly five years from symptom onset before receiving an accurate diagnosis. Given that more than 30% of children with rare disease die before the age of 5, the toll is devastating. The most common reason: rare is rare. Often the symptoms hide behind more common illnesses. While decision-making biases, such as the availability heuristic, play a role, the reality is that, more often than not, the diagnosis was accurate for many patients—just not for the rare disease patient.

One solution is the use of AI to mine the available signals (and there are many) for the red flags that are easily obscured, unseen, or unrecognized. For example, one of our rare disease clients is exploring signals around dose and dosage to more easily identify sufferers. The rapidly progressive nature of the disease is a differentiating characteristic from the misdiagnosis but only noticeable over a year or more. However, the rate of change in the dose or the dosage of the prescribed treatment is an identifiable signal that stands out as a “red flag,” if it can be noticed. Through the use of algorithms, AI can quickly and easily spot these red flags in near-real time, giving patients a time advantage never before possible.

The Reality of Underdeveloped Care Pathways

A common and not inaccurate remark is that most providers will go through their entire careers without seeing patients with a rare disease. Even if we are able to spot the rare disease “red flags” and alert the physician that they may have a patient they should investigate further, often the provider is ill-equipped or insufficiently trained to effectively manage this patient chronically. Changing that reality takes resources and time—both of which conspire against better outcomes for the patient.

The use of analytics for profiling and targeting, including genetic test results data from labs for “hot spotting” and behavioral data measuring affinity for early adoption, allows for the creation of care destinations. The rise of digital health, including telehealth and other virtual care interactions/consults, eliminates the previous challenging geographic limitations. A sufferer of alpha1-antitrypsin deficiency in northern Arizona no longer needs to make successive trips to Phoenix to receive individualized life-saving treatment.

Connecting Emotionally Invested Stakeholders

The same Shire report spoke of the frustration, humiliation, and isolation patients feel when it comes to rare disease. That experience awakens an altruistic zeal in many dedicated to ensuring that other patients and other families don’t suffer as they did. The drive of these patients connects deeply with the care mission that led their doctors into the healthcare profession in the first place. This passion, this purpose requires a forum to be effectively harnessed, with the participants eagerly seeking tools, resources, even training, so they can become the evangelists they desire to be.

Often associated with NORD (National Organization for Rare Disorders), “Alone we are rare. Together we are strong!” speaks to the impassioned determination of those living with and caring for those suffering from a rare disease. Social platforms make it both easier and essential to create sharable digital content valued by the rare disease community. From tools to skill-building to connections and community, the virtual care environment is perfectly suited for patients, families, and providers who are searching, seeking, sharing, and solving.

The rise and increased use of digital health is leading the way—with impressive scientific discovery—to change the trajectory of the rare disease patient. The goal of an advertising agency should be to partner with the clients targeting these rare diseases to provide them with the strategies and perspective they need to make that future a reality.

This article is also featured on PM360.