The U.S. Food and Drug Administration granted de novo marketing authorization for the Invitae Common Hereditary Cancers Panel, an in vitro diagnostic test that can help detect hundreds of genetic variants associated with an elevated risk of developing certain cancers. The test can also help identify potentially cancer-associated hereditary variants in individuals with already-diagnosed cancer. The test evaluates DNA extracted from a blood sample to identify variants in 47 genes known to be associated with an elevated risk of developing certain types of cancer.
The Invitae Common Hereditary Cancers Panel can be used as a tool to help identify inherited causes of various types of cancers. Patients should 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.
For this prescription test, the specimen is collected at the point of care, such as a doctor’s office, and sent to a laboratory for testing. The clinical interpretation of the variants is based on evidence from published literature, public databases, prediction programs and Invitae’s internal curated variants database using Invitae's variant interpretation criteria consistent with those established by appropriate professional organizations or accredited boards. Some of the most clinically significant genes that 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).
The FDA reviewed the Invitae Common Hereditary Cancers Panel under the FDA’s De Novo premarket review pathway, a regulatory pathway for low- to moderate-risk devices of a new type. To validate the performance, Invitae tested over 9,000 clinical samples, and achieved ≥99.0% accuracy for all tested variant types.
The risks associated with the test are mainly the possibility of false positive and false negative test results, as well as possible misunderstanding of the results.
Along with this De Novo authorization, the FDA is establishing special controls that define the requirements related to labeling and performance testing. For example, 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.