Regulatory oversight is sometimes seen as an impediment to innovation in health care. It’s true, of course, that the Food and Drug Administration is entrusted with making sure new tests and treatments meet a high standard for safety and efficacy. But the agency is acutely aware that saving lives also means getting genuine medical advances to market as fast as possible.
After decades of experience as a physician and researcher and nearly two years at the FDA, I’m convinced that smart regulation can actually foster innovation. And that’s especially true today with the advent of precision medicine, an exciting new approach to health care that aims to tailor care for each individual, based on their unique genetic makeup, environment, and history.
President Obama galvanized work in this area when he launched the Precision Medicine Initiative in 2015; a month ago, in December 2016, Congress passed the 21st Century Cures Act with bipartisan support to provide it with dedicated funding of $1.4 billion. We at the FDA are committed to this effort, and we’ve developed a regulatory strategy, based on input from numerous experts in the field, that I believe is ideally suited for rapidly changing technologies.
Precision medicine relies on an advanced DNA testing process known as next-generation sequencing. The technology is still being developed, but NGS can map almost all of a person’s genome in a single run, making it much faster and cheaper than earlier methods. By detecting genetic markers for diseases, it can be used to inform prevention efforts, improve diagnoses, and suggest which treatments are likely to work best for each patient.
But targeted therapeutics are only as good as the information they’re based on. For precision medicine to succeed, NGS tests must be accurate and reliable, and the responsibility for ensuring that they are falls to the FDA. To meet our twin goals of protecting patients and facilitating innovation, the agency has developed a two-pronged strategy.
First, to spur collaboration among NGS researchers, we’ve created an open source R&D portal called precisionFDA. Today nearly 2,100 individual members from 568 organizations are sharing and comparing data, software tools, and testing methodologies on the site. We’ve also used the platform to sponsor a series of contests addressing specific technical challenges to further engage users.
The benefits of this cloud-based portal are many. Besides helping to accelerate the development of NGS technology, it puts the agency at the center of ongoing discussions, allowing us to stay up to date on issues and breakthroughs in the field. The site has been very popular with users and won the Bio-IT Best Practices Award for informatics in 2016.
Second, we’ve begun to lay out a flexible roadmap for regulatory approval. Given the complexity of NGS technology, test developers need assurance as well, and we've tried to reduce uncertainty in the process. Regulation that keeps pace with changing technology and is grounded in finding the right balance of risks and benefits can create the structure and clarity that are essential for industry to thrive.
In fact, I recently met with a group of venture capitalists at a biotech convention in San Francisco and was pleased to learn they hold a similar view about the value of appropriate and flexible oversight. They told me that before they will fund a company with an emerging technology, they must be sure there will be a consistent and predictable regulatory path to market for the product.
The streamlined approach we've outlined for NGS-based tests relies on the agency's voluntary recommendations, or guidances. The first documents were released in July 2016. One is a draft guidance proposing that developers use a set of performance standards formulated by industry consensus to demonstrate whether a test provides accurate, meaningful, and reliable results.
Another describes how developers might cite data and findings from recognized genomic databases to support their tests' clinical validity. This approach allows the community to develop data collectively rather than individually, minimizing the need for separate and sometimes duplicative clinical studies.
Taken together, these two guidance documents will help speed tests to market while maintaining standards of quality. They are truly a reflection of expertise from across the NGS community. But they are only a first step. While feedback has been encouraging, a lot of collaborative work remains to be done by the genomics community and between the genomics and clinical communities. For instance, we don't yet have any of those community-standard databases. But the guidance lays out an achievable pathway for recognition, and the agency is prepared to work with database administrators who are interested in having their data sets recognized.
Our goal is to help developers move efficiently from concept to commercially viable products by reducing uncertainty, encouraging best practices, and providing the regulatory flexibility that test developers need to innovate. And we can do this while assuring patients and doctors that the tests they depend on are accurate, reliable, and clinically valid.
