By: Jeffrey Shuren, M.D.
Just for a moment, imagine a scenario in which you have an illness that has eluded diagnosis. The usual suspects have been ruled out and no one knows exactly what’s making you sick.
Using medical devices that FDA has now cleared for marketing, a laboratory could sequence your genome to look for any abnormalities in your genes that could be responsible for your illness. This information would be relayed to your doctor and used to determine the course of treatment.
This is called “next generation sequencing” because it’s another step towards a future in personalized medical care that few of us could have envisioned even a decade ago.
First, let’s define some terms. A genome is the complete set of genetic information in your body. This information is held in sequences of DNA, and gene sequencing from your whole blood allows laboratories to look for genetic variations that could hold the key to the causes of disease and the right treatment.
FDA is clearing the marketing of four gene-sequencing devices. Two of the devices make up the first test system authorized for marketing that allows laboratories to sequence a patient’s genome for any purpose. The software compares the patient’s sequence to a normal human genome sequence used for reference and identifies the differences.
The other two devices are used to detect changes in the CFTR gene, which can result in cystic fibrosis, a disease inherited through a faulty CFTR gene from both parents. More than 10 million Americans are carriers of cystic fibrosis (they have only one faulty copy), and one of these tests could be used to identify men and women with the faulty CFTR gene. The second test looks for other, perhaps unexpected, mutations in the CFTR gene that could be having an impact on the patient’s health.
Regulatory science – the science of developing new tools, standards and approaches to assess the safety, effectiveness, and quality of FDA-regulated products – played a key role in FDA’s readiness to assess these revolutionary devices. Knowing the potential of next generation sequencing to advance personalized medicine, FDA researched next generation sequencers to understand how they work and their likely limitations. By the time Illumina (the San Diego-based biotechnology company that developed the next generation sequencing devices authorized for marketing) walked in the door, FDA had the expertise and tools needed to timely review the submissions for the next generation sequencers.
The regulatory science development efforts that contributed to the timely marketing authorization of these devices will continue to help advance this important technology. We are also collaborating with the National Institute of Standards and Technology – a federal agency that works to advance measurement science, standards and technology – and other agencies to develop human genome materials that can serve as reference materials so that other labs and researchers can assess the performance of their gene sequencers quickly, effectively, and at a lower cost.
We are working on many fronts to achieve the promise of personalized medicine, so that patients can get medical treatments that are right for them. Clearing the marketing of these four devices moves us closer to that goal.
For further perspective, read a new article in the New England Journal of Medicine by FDA Commissioner Margaret A. Hamburg, M.D. and National Institutes of Health Director Francis S. Collins, M.D., Ph.D.
Jeffrey Shuren, M.D., is Director of FDA’s Center for Devices and Radiological Health