PCORI Announces Expert Panel on Rare Disease

March 25, 2014 by Bryan Luce, PhD, MBA

In some ways the term rare disease is a misnomer. As our blog last month on Rare Disease Day noted, rare diseases, taken together, are quite common. Defined as a condition affecting fewer than 200,000 people in the United States, there are nearly 7,000 recognized rare diseases, affecting more than 25 million people overall. Rare diseases present many unanswered questions for patients and those who care for them, especially given that, for any particular rare disease, few clinicians have treatment experience. Researchers also often have difficulty putting together a large enough patient population for a clinical trial.

Considering these challenges to comparing options for prevention, diagnosis, and treatment, PCORI’s authorizing legislation instructs us to establish an expert advisory panel to help us decide how best to manage research on rare diseases. We’re fulfilling that obligation today with our Board of Governors’ appointment of a 13-memberAdvisory Panel on Rare Disease. The new panel includes patients, caregivers, and representatives of rare disease advocacy groups, as well as clinicians, researchers, staff members from pharmaceutical companies, and a representative of an insurer.

The Panel’s Task

To date, PCORI has approved funding for eight research projects on rare diseases. We will look to our new panel for regular feedback and advice as we grow this research portfolio. Panelists will guide us as we determine how those projects should be designed and conducted. The panel will be of particular value as we select topics for targeted funding announcements and design those announcements so they address patients’ practical questions.

The panel will also facilitate our work with the rare disease community. A major responsibility of the panelists will be to help determine and prioritize that community’s research needs and provide input on specific concerns.

To increase our return on investment in rare disease research, we also intend to tap into panelists’ knowledge. We expect the panel to identify opportunities for collaboration based on their familiarity with other organizations conducting similar or complementary work and their understanding of how rare disease research findings can be disseminated most effectively.

Selecting the Panelists

Panelists for the Advisory Panel on Rare Disease were chosen through an open application process. We received 129 applications, well-distributed among stakeholder groups.

As required by the panel’s charter, more than one-third of the panel members are people with rare diseases, their caregivers, or representatives of rare disease advocacy groups. The full panel has six women and seven men, and each quadrant of the country is represented by at least two panelists. The panel includes whites, African Americans, Hispanics, and Asian American/Pacific Islanders. It incorporates a wide range of experiences and perspectives, especially from groups with serious challenges or poor health outcomes.

So that the terms of all members of the new panel will not expire simultaneously, half the members have been appointed for one year, and the other half for two years. Going forward, terms for all members will be for two years, with a two-term limit.

We look forward to the Advisory Panel on Rare Disease’s first meeting on April 30. That panel, along with our newAdvisory Panel on Clinical Trials, will join PCORI’s first four advisory panels in identifying high-priority topics to study and partnering with the healthcare community to ensure that our work answers the most important questions.

Luce is PCORI’s Chief Science Officer