FDA Grants Marketing Authorization to First DNA Test to Assess Multiple Cancer Predispositions

FDA Grants Marketing Authorization to First DNA Test to Assess Multiple Cancer Predispositions

The FDA has granted marketing authorization to the Invitae Common Hereditary Cancers Panel, which is an in vitro diagnostic test that can detect genetic variants associated with an increased risk of developing certain cancers. The test can also help identify potential cancer-associated hereditary variants in individuals who have already been diagnosed with cancer.^1,2

The marketing authorization is supported by a review under the FDA’s De Novo premarket review pathway, in which Invitae tested over 9,000 clinical samples, and was associated with over 99.0% accuracy.

According to experts with the FDA, this may prove to be a useful tool in improving public health.

“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, JD, director of the FDA’s Center for Devices and Radiological Health, noted 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.”

A First-of-Its-Kind Test

This test is the first of its kind to receive FDA marketing authorization. However, it is important to note that it was not designed to identity or evaluate all known genes that are associated with a predisposition for cancer. According to the CDC, there are over 100 different forms of cancer. This test can identify the variants in 47 genes known to be associated with the disease.

The Invitae Common Hereditary Cancers Panel evaluates DNA that is extracted form a blood sample to help identify individuals who have inherited genetic dispositions to cancer. Patients are encouraged to speak with a healthcare professional—ideally a genetics counselor—and share their personal history of cancer, as this can help in interpreting the test results.

Because this is a prescription test, the specimen is collected at a point of care, usually a doctor’s office, before being sent to a laboratory for testing.

Some of the most clinically significant genes that can be identified through the test include:

• BRCA1 and BRCA2 (associated with hereditary breast and ovarian cancer syndrome)
• MLH1, MSH2, MSH6, PMS2, and EPCAM (associated with Lynch Syndrome)
• CDH1 (mainly associated with hereditary diffuse gastric cancer, and lobular breast cancer)
• STK11 (associated with Peutz-Jeghers Syndrome).

Potential Implications of the Approval

According to the FDA, the greatest risks associated with the test are the possibility of false positives and false negatives. There is also the possibility of misunderstanding the results.

They note that false negatives can create a misleading sense of assurance and result in a lack of appropriate surveillance or clinical management. On the other hand, false positives can result in inappropriate decision making and lead to other undesirable clinical consequences.

In addition, it may be difficult for patients who receive a negative result to understand that they still have some risk for developing cancers that are not evaluable through this test.

Analytical performance validation, clinical validation, and appropriate labeling and marketing will be an important part of mitigating these risks.

References

1. FDA grants first marketing authorization for a DNA test to assess predisposition for dozens of cancer types. News release. FDA. September 29, 2023. Accessed October 2, 2023. https://www.fda.gov/news-events/press-announcements/fda-grants-first-marketing-authorization-dna-test
2. Test catalog > Invitae Common Hereditary Cancers Panel. Accessed October 2, 2023. https://www.invitae.com/en/providers/test-catalog/test-01102