FDA Approves DNA-Based Cancer Predisposition Test for Marketing

The test uses ‘next-generation sequencing’ to identify the hereditary risks of cancers as well.
FDA Approves DNA-Based Cancer Predisposition Test for Marketing
The U.S. Food and Drug Administration (FDA) in White Oak, Md., on June 5, 2023. (Madalina Vasiliu/The Epoch Times)
Naveen Athrappully

The U.S. Food and Drug Administration (FDA) granted its first marketing authorization for a DNA test that can determine the likelihood of a person developing certain types of cancer.

On Friday, the FDA granted marketing authorization for biotech firm Invitae’s “Common Hereditary Cancers Panel,” a blood test to identify cancers. The test evaluates DNA extracted from a blood sample to identify hundreds of genetic variants known to be associated with a higher risk of developing cancers like those affecting the breasts, ovaries, prostate, uterus, colon, rectum, and stomach. As such, it offers a simpler way to identify the likelihood of developing cancer. The test can identify variants in 47 genes.

“The test can also help identify potentially cancer-associated hereditary variants in individuals with already-diagnosed cancer,” the FDA said in a Sept. 29 press release. The DNA blood test is the “first of its kind to be granted FDA marketing authorization.”

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

To validate the test’s ability to accurately identify cancer risks, Invitae ran the blood test on more than 9,000 clinical samples, achieving an accuracy rate of over 99 percent, the agency stated.

According to the FDA, the risks associated with the test are the possibility of “false positive and false negative test results, as well as possible misunderstanding of the results.”

False negative results may provide a sense of fake assurance to people who have cancer that they do not have the illness, with the possibility that such individuals may not receive the care they need, the agency said.

False positive results may make a person who does not have cancer assume they have the disease, potentially leading to “inappropriate decision-making” when it comes to lifestyle and health care.

The FDA stressed that Invitae’s test is not aimed at identifying all known genes that are associated with a predisposition for cancer. “Genetics are not the only factor in development of cancer,” it said.

“Some of the most clinically significant genes that the test identifies are: BRCA1 and BRCA2, which are genes with known associations to hereditary breast and ovarian cancer syndrome, Lynch syndrome associated genes (MLH1, MSH2, MSH6, PMS2 and EPCAM), CDH1 (mainly associated with hereditary diffuse gastric cancer, and lobular breast cancer) and STK11 (associated with Peutz-Jeghers Syndrome).”

FDA Authorization, Blood Tests

According to the FDA, Invitae’s “Common Hereditary Cancers Panel” was granted a “de novo” marketing authorization. The “de novo” authorization was granted under the agency’s medical devices classification.

The FDA classifies medical devices into low-risk, moderate-risk, and high-risk. A “de novo” approval is given only for products that are identified as low or moderate risk and for which a similar, legally marketed equivalent does not exist.

De novo applications must prove that clinical benefits of the product outweigh risks to users in order to get approval from the agency.

Invitae’s “Common Hereditary Cancers Panel” is the latest cancer blood test that has been authorized by the FDA.

In January, the FDA granted a Breakthrough Device Designation for biotech firm Burning Rock’s OverC Multi-Cancer Detection Blood Test (MCDBT) which is intended for early detection of multiple cancers.

Blood tests are a commonly used method to identify cancer risk. A blood chemistry test looks at the amount of certain substances released into the blood by the organs and tissues to identify potential cancer.

A complete blood count (CBC) measures the number of red blood cells, white blood cells, and platelets, as well as other things like the amount of hemoglobin to determine the likelihood of cancer in a person.

Cancer is the second most common cause of death in the United States. The American Cancer Society (ACS) estimates (pdf) 609,820 deaths from cancer this year in the country, which comes to around 1,670 deaths per day.

Over 1.9 million new cancer cases are predicted to be diagnosed in 2023, per ACS. Cancers of the genital system are expected to be the most common newly diagnosed type of cancer, followed by cancers of the digestive system, breast, respiratory system, and urinary system.