On Tuesday, February 22, 2022, Friends of Cancer Research (Friends) hosted a live virtual event that brought together leading voices from various health sectors to discuss key considerations for developing diagnostics tests for rare populations of patients, including those with rare diseases and rare biomarkers. The meeting covered topics surrounding the findings from a recent white paper.
The event was broadcast through YouTube and is available to watch here.
Ellen Sigal, Chair and Founder of Friends, commenced the event by introducing the keynote speakers, Representatives Diana DeGette (D-CO) and Larry Bucshon (R-IN). They both spoke about the importance of diagnostics tests for patients, while also highlighting how the VALID Act would help to provide an expedited approval pathway for these tests that address an unmet medical need. Rep. Bucshon also cited his experience as a doctor and emphasized the importance of ensuring tests are safe and accurate for patients.
Representative Diana DeGette: “The reliability of these tests can literally mean the difference between life and death for some patients.”
Jeff Allen, President and CEO of Friends, then introduced the main panel that was moderated by Megan Doyle from Amgen. Other panelists included Soma Ghosh from the U.S. FDA, Rasika Kalamegham from Genentech, Jochen Lennerz from Massachusetts General Hospital, and Elizabeth Mansfield from Foundation Medicine.
Elizabeth Mansfield began the discussion by reviewing some of the white paper recommendations regarding companion diagnostics for rare populations, which included improving the co-development process and increasing regulatory flexibility. She and Rasika Kalamegham also spoke about the difficulty of procuring samples, which hinders the clinical trial process. Soma Ghosh provided the FDA perspective, saying that the FDA currently provides regulatory flexibility for products in the rare disease space. She also recognized that the co-development process has not always been ideal, and that some drugs have been approved without a companion diagnostic test for the same biomarker. Jochen Lennerz noted that improving performance characteristics of the tests can increase patient access to and the effectiveness of clinical trials.
Elizabeth Mansfield: “The most important thing is to actually have access to as many samples as possible.”
To close out the meeting, Megan Doyle facilitated a Q&A session for the panelists. In response to a question about how the regulatory flexibility proposals from the white paper could be implemented today, Rasika Kalamegham said that the recommendations were “granular” and would not require statutory changes. In response to another question, Jochen Lennerz clarified the definitional difference between a rare disease (<=10,000 patients affected by a disease), a rare variant (occurring in ~1% of the reference population of a certain disease), and a rare biomarker (a fraction of the rare variant sub-population). The panel also provided brief responses to questions about topics including the involvement of patients, performance metrics, and real-world clinical evidence.
You can find the recent Friends white paper here.