The Invitae Common Hereditary Cancers Panel has received new marketing approval from the FDA for commercial use as a diagnostic test designed to detect genetic mutations associated with an increased risk of developing certain types of cancer.1
The test was reviewed through the FDA’s new premarket review pathway, and Invitae tested over 9,000 clinical samples. The panel was found to be at least 99% accurate for all test variants.
This in vitro test may also help identify potential cancer-associated mutations in patients who have already been diagnosed with cancer.
The Invitae panel uses DNA taken from a blood sample to increase the risk of developing certain types of cancer, including breast, ovarian, uterine, prostate, colorectal, stomach, and melanoma cancers. We have identified mutations in 47 genes that have been demonstrated to be associated with. And the pancreas.2
The panel includes the following genes: APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, CTNNA1, DICER1, EPCAM, GREM1, HOXB13, Kit, MEN1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, and VHL. It should be noted that this test is designed to identify germline mutations and not to detect somatic mutations in tumor tissue, according to Invitae.
Regulators say it is the first device of its kind to receive marketing authorization from the FDA.1
“By using next-generation sequencing, this test can assess multiple genes in one test, which has proven useful in providing insight into genetic mutations with sensitivity and speed. ,” said Jeff Shuren, MD, JD, director of the FDA Center for Devices and Radiology. Health, as stated in the news release. “Today’s action could provide an important public health tool that provides individuals with more information about their health, including possible predispositions to certain cancers, and allows doctors to assess the risk of cancer based on discovered mutations.” will help provide appropriate monitoring and potential treatments.”
Testing is performed using samples collected at the point of care and sent to a laboratory for testing.
The test was reviewed through the FDA’s new premarket review pathway, and Invitae tested over 9,000 clinical samples. The panel was found to be at least 99% accurate for all test variants.
Specifically, the panel demonstrated greater than 99% analytical sensitivity and specificity for single nucleotide variants less than 15 bp in length, insertions, deletions, and exon-level deletions and duplications. 2 Invitae noted that this test can detect insertions. Deletions larger than 15 bp but smaller than a complete exon. However, their sensitivity may be slightly reduced.
According to the FDA, risks associated with the test include the potential for false negative and/or false positive results and the potential for misinterpretation of results.1
References
1. FDA grants first marketing approval for DNA test to assess predisposition to dozens of cancer types. news release. F.D.A. September 29, 2023. Accessed October 2, 2023. https://www.fda.gov/news-events/press-payments/fda-grants-first-marketing-authorization-dna-test
2. Test Catalog > Invitae Common Hereditary Cancer Panel. Accessed October 2, 2023. https://www.invitae.com/en/providers/test-catalog/test-01102
