I had an opportunity last week to be part of the Spotlight Health conference, the opening segment of the Aspen Ideas Festival held in beautiful Colorado, as a Spotlight Health Scholar.
This event brings together over 1,000 attendees to grapple with the most pressing issues facing all aspects of health – public health, global health, U.S. health care, and the future of biomedical innovation and affordability.
Dual themes emerged for me throughout the conference – the great potential of science and new types or analytics applied to health, and the pressing needs that exist for society and individual patients. Nowhere is this duality more present than for patients and their families suffering from a rare disease.
Rare or orphan diseases are those that affect less than 200,000 patients nationwide. You may not have direct experience with someone suffering from a rare disease. However, there are nearly 7,000 known rare diseases – hemophilia, cystic fibrosis, muscular dystrophy, and Friedreich’s ataxia, to name a few – and today, an estimated 25-30 million (or 1 in 10) Americans live with a rare disease. This means that in our communities where we live, work, and play, there is someone who is waiting for the next cure or effective treatment.
FasterCures has a long history of supporting efforts to accelerate medical research overall, and especially for rare diseases. I was encouraged to meet so many more colleagues in Aspen who have joined in this mission.
Medicine’s “Platinum Age”
One presenter posited that we are no longer in the “golden age” of medicine, but because of the investment in genomics, we are now entering a “platinum” age. Based on the insights that have been accumulated about our genes and their link to medical conditions such as blindness and hemophilia, we are beginning to see the start of Food and Drug Administration-approved gene therapies. The science brings hope, but it may also bring hype. There was an acknowledgment and engaging discussion at the conference about how to manage the expectations of patients and the public surrounding these advancements.
Blockchain isn’t Just for Bitcoins
This new era of medicine is also made possible by the availability of data and the application of advanced analytics. A Facebook Live interview that I hosted with Dr. Shao-Lee Lin, Horizon Pharma’s head of research and development and chief scientific officer, and Ronald Bartek, president and co-founder of the Friedreich’s Ataxia Research Alliance, recognized that new data structures are needed to accelerate research on a wide range of rare diseases. Our discussion also highlighted the importance of partnership between industry and patient organizations to invest in the knowledge needed to turn science into treatments and cures.
One of the most thought-provoking ideas about blockchain came from Shada Alsalamah, a visiting scholar at MIT Media Lab during a session titled “Unlocking the Power of Blockchain in Healthcare.” She showcased two case studies for how blockchain was transforming the patient experience and enabling more collaborative, patient-centered care – an important need for patients with rare conditions who may have to seek care from a wide range of physicians and providers.
Innovation and Affordability, a False Choice
Treatments for rare diseases can be costly. Spark Therapeutics’ new treatment for blindness, LUXTURNA™, costs $425,000 per eye. During a breakout session at the conference, Spark Therapeutics’ CEO Jeff Marrazzo talked about the various approaches it was taking to work with payers and patients to ensure access.
For patients with rare disease, access to affordable insurance is critical. Atul Gawande reminded attendees that “life is the accumulation of pre-existing conditions.” Children make up over 50 percent of those newly diagnosed with a rare disease. For them, their pre-existing condition starts at a young age.
Joining the Call
Despite modern advancements within the biomedical R&D system, my time at Spotlight Health made clear to me that there is work to do to deliver more, better, faster, and cheaper treatments and cures to patients suffering from rare diseases.
As we look forward to the road ahead, it is encouraging that we at FasterCures will not be alone in these important efforts. In reflecting on the conference, I am inspired by the many wonderful colleagues I interacted with who have joined the call to serve rare disease communities. I am hopeful that continued collaboration among all parties, most especially the patients themselves, will lead to bright futures for those suffering from rare disease.
