"Here Us Now:" The Patient Community Has Spoken

To spur medical innovation the United States funds (privately and publicly) more than $95 billion per year in medical research. A Milken Institute report that examined chronic disease estimated that if little were changed, chronic diseases would cost $4.2 trillion in lost economic output and costs of treatments. If modest progress could be made, then the economic impact could be reduced by up to $1.1 trillion annually.¹ The monetary and therefore economic impacts of medical research and treatments are clearly linked and signifi cant.

Rare and genetic diseases affect 1 in 10 Americans (30 million people in the United States) and 350 million globally. More than 7000 distinct rare diseases exist and approximately 80% are caused by faulty genes. The National Institutes of Health estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.^2-4

Unfortunately, breaking down the silos has a lot to do with aligning incentives of everyone involved in the healthcare system—which includes you and me. At the foundation of entrepreneurship, we understand the importance of incentives leading business practice. Hospitals optimize their income from medical treatment, insurance companies are incentivized to minimize payments, and doctors are just trying to treat patients in a system that is shifting under their feet. Researchers are incentivized to publish for their peers, and the various other players in the system (including the patients) are intent on hoarding data or not sharing data.

The documentary “Here. Us. Now.” tells a story of 3 realities in the United States today.⁵

First, there is the growing patient advocate’s role in driving changes in policy and popular sentiment. We saw this in the acquired immunodefi ciency syndrome movement and hope for the same in pediatric and rare diseases. Second, there are new joint initiatives spurring advancements in research. The Myelin Repair Foundation, Michael J. Fox Foundation, and Army of Women program are pursuing models of patient-driven research and developing partnerships with academic and private sector scientists. These models, which are intent on utilizing a patient focus to accelerate research outcomes while also driving policy changes through their unique funding models, have grown signifi cantly and are achieving critical outcomes. Last but not least, there is a patient/ parent-conducted research and development model. This documentary presents the story of the Hempels, a family with identical twin daughters with an ultra-rare fatal disease, Niemann Pick Type C, and the parents’ quest to find new treatments to help save their girls’ lives.

The intent of this documentary is to underscore the need for accelerating the alternative pathways for new discoveries that hold the promise for curing patients. The documentary prompts 2 questions: “How can our country’s research and development process be fixed?” and “What can I do to help?”

Here are a few ways to learn more about these important issues and how to get involved.

• Support patients having full and automatic access to their own health data and the ability to determine how their data are utilized. Visit the websites for Consent to Research and the Personal Genome Project to learn more about informed patient consent initiatives and how you can become involved.^6,7

• Learn about open access to research and the need for immediate sharing of data resulting from taxpayer-funded medical research.⁸

• Be aware of the increased focus on the potential of repurposing current treatments to address other disease states. Weak or no patent protection is a disincentive for drug development, as it hinders a manufacturer’s ability to recoup the investment in expensive clinical trials. This disincentive is even more pronounced for treatments of rare or complex diseases. There are few incentives in place to allow development of such treatments to occur, and new models or policies must be defined and developed to address this issue.⁹

• Understand that an increased focus on rare diseases is an opportunity to advance personalized medicine.¹⁰

• Help in the effort to reduce the current $2.6 trillion a year spent on healthcare in the United States by learning more about the data-focused relationship between treatments and outcomes. In order to control these costs, we must incentivize funding of accurate diagnostics for all diseases and comparative effectiveness research.^11,12