FDA Greenlights Test for Cancer-Predisposing Genetic Mutations

The FDA authorized marketing of the first DNA test to help detect hundreds of genetic variants associated with cancer predisposition.

The Invitae Common Hereditary Cancers Panel tests DNA in a blood droplet for the presence of variants in 47 genes associated with an increased risk of developing certain cancers.

“[This] action can provide an important public health tool that offers individuals more information about their health, including possible predisposition for certain cancers, which can help guide physicians to provide appropriate monitoring and potential therapy, based on discovered variants,” said Jeff Shuren, MD, JD, of the FDA’s Center for Devices and Radiological Health, in a statement.

The test panel includes BRCA1 and BRCA2, well known for their associations with hereditary breast and ovarian cancer, as well as genes associated with Lynch syndrome and Peutz-Jeghers syndrome, among others. More than 100 types of cancer have known associations with genetic variants that increase a carrier’s risk for developing cancer.

The FDA advises patients to “speak with a healthcare professional, such as a genetic counselor, to discuss any personal/family history of cancer, as such information can be helpful in interpreting test results. Importantly, this test is not intended to identify or evaluate all known genes that can provide insight into predisposition for cancer.”

The principal risk associated with the test is the potential for false-positive or false-negative results, as well as possible misunderstanding or misinterpretation of the results. The FDA noted that false-negative tests may give patients and healthcare providers a false sense of assurance that might interfere with appropriate cancer surveillance or cancer treatment. False-positive results could lead to inappropriate decision making that can have adverse consequences.

Along with the marketing authorization, the FDA established performance and labeling standards for the Invitae test and similar tests that might follow. For example, reporting accuracy for substitutions, insertions/deletions, and copy-number variants must be ≥99% for both positive and negative agreement with a validated calculation method. Invitae’s test achieved the ≥99% threshold in validation studies involving more than 9,000 clinical samples.

In granting the marketing authorization, the FDA created a new regulatory classification that will allow manufacturers of devices to obtain marketing authorization by demonstrating equivalence to an existing device.

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