First DNA Test to Assess Risk for Dozens of Cancers Earns De Novo Nod

The U.S. Food and Drug Administration (FDA) has granted de novo authorization for the Invitae Common Hereditary Cancers Panel, an in-vitro diagnostic test to help spot hundreds of genetic variants linked to an elevated risk of developing certain cancers.
 
The test may also help identify possible cancer-associated hereditary variants in some people with already diagnosed cancer. FDA said the test—which evaluates DNA extracted from a blood sample to identify variants in 47 genes known to be linked to a risk of developing certain cancers—is the first of its kind to be granted marketing authorization.
 
FDA said the action creates a new regulatory classification, as well.
 
“This test can assess multiple genes in a single test by using next-generation sequencing, which has proven helpful in providing insight into genetic variants with sensitivity and speed,” Jeff Shuren, MD, J.D., director of the FDA’s Center for Devices and Radiological Health said in a press release. “Today’s 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.”
 
For the prescription Invitae test, specimens are collected at the point of care and sent to a lab for testing. Clinical interpretation of the variants is based on evidence from published literature, public databases, prediction programs, and Invitae’s internal, curated variants database.
 
The company said the most clinically significant genes the test identifies are: BRCA1 and BRCA2, which are genes with known associations to hereditary breast and ovarian cancer syndrome, Lynch syndrome associated genes (MLH1, MSH2, MSH6, PMS2 and EPCAM), CDH1 (mainly associated with hereditary diffuse gastric cancer, and lobular breast cancer), and STK11 (associated with Peutz-Jeghers Syndrome).
 
To validate the performance, FDA said that Invitae tested over 9,000 clinical samples, and achieved ≥99.0% accuracy for all tested variant types.
 
The agency also established special controls to define requirements related to labeling and performance testing:
 
“…accuracy for reporting of substitutions, insertions/deletions and copy number variants must be ≥99.0% for positive agreement and ≥99.9% for negative agreement with a validated orthogonal method. When met, the special controls, in combination with general controls, provide a reasonable assurance of safety and effectiveness for tests of this type.”