Dive Brief:

• FDA on Tuesday said it would formally recognize a public database that contains information about genetic variants and their links to diseases, a move that will allow test developers to rely on the database in their applications to the agency. The information is collected by the Clinical Genome Resource, or ClinGen, consortium, which is funded by the National Institutes of Health.
• FDA said it hopes the program will encourage database administrators to submit genetic variant information to publicly accessible databases, which could help reduce regulatory burdens on test developers and spur advancements in precision medicine.
• Scientific evidence in the database can be used to support validity in premarket submissions and will encourage development of tests including next generation sequencing (NGS) technology to enable more targeted medical care for patients, the agency said.

Dive Insight:

Better understanding of the relationships between genotypes and diseases can improve the diagnosis and treatment of patients with hereditary conditions. Unlike traditional diagnostics that detect chemical changes associated with a single disease, DNA-based tests can evaluate millions of DNA changes to help determine the cause of a person’s condition.

The ClinGen consortium comprises more than 700 researchers and clinicians who will develop standard processes for reviewing data on genetic variants and their connections to diseases, FDA said.

New medicines developed as a result of DNA-based testing are benefiting patients with rare, hard-to-treat and sometimes fatal conditions, said FDA Commissioner Scott Gottlieb.

“The availability of genetic tests is opening up new opportunities to segment illnesses into more treatable subsets and enabling the development of targeted therapeutics aimed at these previously unknown categories of disease,” Gottlieb said in a press release.

FDA reviewed ClinGen’s operating procedures, including validation studies for variant evaluation, data integrity and security, and transparency of evidence. It reviewed conflict of interest and disclosure policies for contributing researchers.

The agency's review also covered variant classifications for gene changes in reproductive cells in hereditary disease where there is a high likelihood that the condition will materialize if the gene is altered. Genetic tests may use this germline variant information to detect for cardiomyopathy, hearing loss, metabolism issues and other hereditary conditions, FDA said.

The agency issued a final guidance document detailing the process in April. 

NIH Director Francis Collins said a key challenge for precision medicine is the need to translate discoveries from the Human Genome Project so that they can be used by physicians.

“ClinGen provides a standard curated data reference of genetic variants to facilitate the development and implementation of genetic tests for use by health care professionals, which is critically important for moving science into practice,” Collins said.