FDA Approves Hereditary Cancer Risk Blood Test

The FDA has granted de novo marketing authorization to the Invitae Common Hereditary Cancers Panel, marking the first time a DNA test of this kind has received such approval. This blood-based test analyzes 47 genes associated with increased risk for a range of hereditary cancers, including breast, ovarian, colorectal, and others. It can also help identify cancer-associated hereditary variants in individuals who have already been diagnosed with cancer. The test uses high-throughput DNA sequencing to detect hundreds of genetic variants linked to cancer predisposition.

Among the genes analyzed are BRCA1 and BRCA2 (linked to breast and ovarian cancer), genes associated with Lynch syndrome, and others tied to hereditary gastric, lobular breast, and Peutz-Jeghers syndromes. The FDA reviewed and validated the test using over 9,000 clinical samples, demonstrating 99% or greater accuracy for all tested variant types. This panel is intended for use by healthcare professionals to help guide patient management, preventive measures, and early interventions based on genetic risk.

However, the test is not meant for general cancer screening or prenatal testing, and results must be interpreted in the context of family history and other clinical findings. Potential risks include false positives or negatives and misinterpretation of results, but these are mitigated by robust validation and clear labeling. The FDA’s authorization is expected to expand access to reliable hereditary cancer risk assessment, empowering individuals with a family history of cancer to make more informed health decisions.