Diagnostics Pipeline: FDA Opens Path for Blood Tests Assessing Genetic Cancer Risk

The U.S. Food and Drug Administration (FDA) recently granted marketing authorization for a blood test to help identify genetic variants associated with a higher risk of developing cancer, including in individuals who have been previously diagnosed with cancer. This is the first time the FDA has granted full clearance to such a test. In addition to granting de novo authorization for the new assay, the agency announced that it is also opening a pathway that manufacturers can use to bring similar tests to the US market.¹

The diagnostic challenge

According to the National Cancer Institute (NCI), up to 10 percent of all cancers may be caused by inherited genetic changes. Coupled with consideration of family history, identifying whether a person has genes associated with a higher risk of certain cancers can thus be instrumental in screening and early detection. If genetic testing reveals the presence of inherited cancer-related gene variants, the person can take steps to reduce the risk of developing the disease—or be prioritized for further testing to catch the disease early if it has already developed.²

For example, individuals with inherited variants in the BRCA1 or BRCA2 genes that are associated with a higher risk of breast cancer can consider options to lower their risks, such as breast cancer screening at an early age, medications, and/or preventive surgery. In addition to prevention, detection of high-risk cancer genes may inform the treatment of patients who have already been diagnosed with cancer.  

The Invitae test

The FDA granted the de novo authorization to the Invitae Common Hereditary Cancers Panel, which is capable of detecting changes in 47 genes linked to hereditary cancers from a blood sample, including the following clinically significant genes:¹

• • BRCA1 and BRCA2 associated with hereditary breast and ovarian cancer;

• • MLH1, MSH2, MSH6, PMS2, and EPCAM genes associated with a genetic condition known as Lynch syndrome that increases an individual’s risk of developing certain cancers;

• • CDH1 associated with diffuse gastric cancer and lobular breast cancer; and

• STK11 associated with Peutz-Jeghers Syndrome, a rare disorder linked to higher risk of hereditary cancers in the digestive tract.

Genetic tests for assessing hereditary cancer risk have existed for decades. However, the Invitae test is the first to have undergone FDA review to prove its safety and efficacy, according to Lori Minasian, MD, deputy director of NCI’s Division of Cancer Prevention, in a recent NCI article.³  

According to the FDA, in granting de novo clearance, the agency relied on Invitae test performance validation data demonstrating equal to or greater than 99.0 percent accuracy for all variant types in over 9,000 clinical samples tested.¹

The test is available by prescription only, with the blood sample collected at the patient’s doctor’s office and sent to a laboratory for testing. The FDA recommends that patients talk about their personal and family history with a genetic counselor or other healthcare professional for help in interpreting the results. The agency also notes that the Invitae test is not intended to evaluate all known genes associated with higher risks of cancer and that it’s important to communicate to patients that “genetics are not the only factor in development of cancer.”¹  

The new FDA pathway

The significance of the FDA’s action extends beyond clearing the Invitae test. The agency also created a pathway for other test makers to follow in securing clearance for their own genetic risk blood testing products. Specifically, the FDA established “special controls” that must be met to meet requirements for labeling and performance testing. In combination with general controls, meeting the new special controls will provide a reasonable assurance of safety and effectiveness for these kinds of tests, the agency stated.¹

In creating a new regulatory classification, the FDA has opened the 510(k) premarket process to manufacturers of future tests of the same type and intended use. Those test makers will now have the option of securing authorization by demonstrating the device’s substantial equivalence to a predicate device.

References:

1. 1. https://www.fda.gov/news-events/press-announcements/fda-grants-first-marketing-authorization-dna-test-assess-predisposition-dozens-cancer-types

1. 1. https://www.cancer.gov/about-cancer/causes-prevention/genetics

1. 1. https://www.cancer.gov/news-events/cancer-currents-blog/2023/fda-blood-test-hereditary-cancer-risk

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Here are the other key new laboratory testing and diagnostics product clearances that were announced in the period from mid-October to late November 2023:

New FDA Approvals and Emergency Use Authorizations (EUAs)

New CE marks and global certifications

Notable European CE certifications announced during the period:

New Approvals in Europe

Other international clearances announced during the period: