FDA Approves First DNA Test For Assessing Predisposition To Dozens of Cancer Types
United Stated Food and Drug Administration on Saturday, 29th September approved marketing authorisation for invitae common hereditary cancers panel, an in vitro diagnostic test that can detect genetic variants linked to cancer risk and can identify variants in those diagnosed with cancer by evaluating 47 genes using a blood sample.
According to Centres for Disease Control and Prevention, there are currently more than 100 different documented types of cancer.
“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,” said Jeff Shuren, M.D., J.D., director of the FDA’s Centre for Devices and Radiological Health.
He further noted, “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.”
The invitae common hereditary cancers panel helps identify inherited cancer causes but doesn't cover all relevant genes. It's important for patients to discuss their personal and family cancer history with a healthcare professional, like a genetic counsellor, to interpret the results accurately, the regulatory body suggests.
This prescription test involves collecting a specimen at a healthcare facility and sending it to a lab for analysis. The interpretation is based on evidence from published literature, public databases, prediction programs, and Invitae's curated variants database, using criteria consistent with professional organisations' standards.
Some significant genes the test identifies include BRCA1, BRCA2 (associated with hereditary breast and ovarian cancer), Lynch syndrome genes (MLH1, MSH2, MSH6, PMS2, EPCAM), CDH1 (linked to hereditary diffuse gastric cancer and lobular breast cancer), and STK11 (associated with Peutz-Jeghers Syndrome).
The FDA assessed the Invitae Common Hereditary Cancers Panel through the De Novo premarket review pathway, designed for new, low- to moderate-risk devices. Invitae conducted extensive testing with over 9,000 clinical samples, achieving ≥99.0 per cent accuracy across all tested variant types.
However, the FDA marked that the test carries certain risks, primarily false positive and false negative results and potential misinterpretation. False negatives might wrongly reassure patients, leading to inadequate surveillance or clinical management.
False positives could prompt inappropriate healthcare and lifestyle decisions, possibly resulting in other adverse clinical outcomes. Furthermore, since this test doesn't cover all known cancer-related genes, and cancer development depends on various factors beyond genetics, patients might misinterpret a negative result as eliminating all cancer risk, the statement from the FDA read.
