FDA advances Precision Medicine Initiative by issuing draft guidances on next generation sequencing-based tests

FDAIn support of the President’s Precision Medicine Initiative, the U.S. Food and Drug Administration has issued two draft guidances that, when finalized, will provide a flexible and streamlined approach to the oversight of tests that detect medically important differences in a person's genomic makeup.

The powerful new technology, known as next generation sequencing (NGS), can scan a person's DNA to detect genomic variations that may determine whether a person has or is at risk of disease or may help to inform treatment decisions. While current regulatory approaches are appropriate for conventional diagnostics that measure a limited number of substances associated with a disease or condition, such as blood glucose or cholesterol levels, the new sequencing technologies can examine millions of DNA variants at a time, and thus require a flexible approach to oversight that is adapted to the novel nature of these tests.

"Targeting the right treatments to the right patients at the right time is the goal of the President’s Precision Medicine Initiative," said FDA Commissioner Robert Califf, M.D. "Soon, patients will have a much more complete picture of their health than in the past, informed by their genetic and genomic makeup. The FDA is preparing for this exciting approach at multiple levels."

The field of genetic and genomic testing is dynamic, and the agency understands that there is a need to encourage innovation while assuring that NGS-based tests provide accurate and useful results. When the guidances are finalized, adherence to them will offer appropriate flexible and adaptive regulatory oversight of these tests, while allowing for variations in development and validation and accommodating the rapid evolution of NGS technologies.

"The FDA values the input we received from genomics experts, industry, health care providers and patients from four public workshops and other outreach opportunities. Based on this input, we crafted draft recommendations that we believe will encourage innovation and advance the goal of precision medicine: to speed the right individualized treatments to patients sooner," said Jeffrey Shuren, M.D., J.D., director of the FDA's Center for Devices and Radiological Health. "Precision care is only as good as the tests that guide diagnosis and treatment. The FDA's job is to ensure that doctors and patients can depend upon the accuracy, reliability and clinical validity of these tests. It’s our hope that this approach will achieve just that."

The first draft guidance, titled "Use of Standards in FDA’s Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases" provides recommendations for designing, developing and validating NGS-based tests for rare hereditary diseases, and addresses the potential for using FDA-recognized standards to demonstrate analytical validity, which is how well a test predicts the presence or absence of a particular genomic change.

The second draft guidance, titled "Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics" describes an approach wherein test developers may rely on clinical evidence from FDA-recognized public genome databases to support clinical claims for their tests and provide assurance of accurate clinical interpretation of genomic test results - an easier path for marketing clearance or approval.

"The draft guidances are an important step in the development of NGS-based tests," said Francis Collins, M.D., Ph.D., director of the National Institutes of Health (NIH). "NIH sees great value in these guidances and encourages test developers to adopt the best practices outlined in the guidances so that high quality tests can become available to the patients who need them."

This adaptive approach to regulating NGS-based tests is part of the FDA’s engagement in the Precision Medicine Initiative (PMI). The PMI, launched by the White House in early 2015, is an innovative approach to developing a new kind of health care that takes into account individual differences in people's genes, environments and lifestyles. The FDA’s role in the PMI is foundational: to create regulatory processes that encourage advances in genomic testing while assuring that NGS-based tests are safe and effective. The FDA has been working with experts in the genomics community to conceptualize this flexible approach that strikes the important balance between safeguarding public health and promoting innovation.

The FDA encourages public comments on the draft guidances during the 90-day comment period.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation's food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.

Most Popular Now

Delivering insulin in a pill

Given the choice of taking a pill or injecting oneself with a needle, most of us would opt to regulate a chronic health condition by swallowing a pill. But for millions o...

Probiotics can protect the skeletons of older wome…

For the first time in the world, researchers at the University of Gothenburg, Sweden, have demonstrated that probiotics, dietary supplements with health-promoting bacteri...

Alzheimer's breakthrough: Brain metals that may dr…

Alzheimer's disease could be better treated, thanks to a breakthrough discovery of the properties of the metals in the brain involved in the progression of the neurodegen...

FDA approves first drug comprised of an active ing…

The U.S. Food and Drug Administration today approved Epidiolex (cannabidiol) [CBD] oral solution for the treatment of seizures associated with two rare and severe forms o...

Can aspirin treat Alzheimer's?

A regimen of low-dose aspirin potentially may reduce plaques in the brain, which will reduce Alzheimer's disease pathology and protect memory, according to neurological r...

In mice, stem cells seem to work in fighting obesi…

Obesity is an increasing global health problem associated with several comorbidities and a high risk of mortality. A wide spectrum of interventions has been proposed for ...

FDA takes steps to foster greater efficiency in bi…

Today, the agency withdrew the draft guidance, "Statistical Approaches to Evaluate Analytical Similarity," issued in September 2017. The draft guidance, if finalized as w...

Research shows how a moderate dose of alcohol prot…

For at least 20 years, research has shown that for many people, moderate consumption of alcohol can protect the heart, but the reason for this is poorly understood. A stu...

'Kiss of death' cancer

It's called the 'kiss of death'. Triple negative breast cancer has no targeted drug therapy and, as such, the only hope for these patients is chemotherapy. Triple negativ...

Some existing anti-cancer drugs may act in part by…

Bolstering the notion that RNA should be considered an important drug-discovery target, scientists at Scripps Research have found that several existing, FDA-approved anti...

Novartis Clear about Psoriasis survey data highlig…

Novartis announced today the publication of global Clear about Psoriasis survey data in the Journal of the European Academy of Dermatology and Venereology[1]. The publica...

Poliovirus therapy for recurrent glioblastoma has …

A genetically modified poliovirus therapy developed at Duke Cancer Institute shows significantly improved long-term survival for patients with recurrent glioblastoma, wit...