First blood test to identify 47 genetic mutations related to cancer approved by FDA

The U.S. Food and Drug Administration (FDA) has approved the first blood test to identify 47 genetic mutations that may be associated with cancer. The approved blood test was able to identify genetic mutations with an accuracy of over 99.0% in over 9,000 blood samples during pre-market review.

FDA Grants First Marketing Authorization for a DNA Test to Assess Predisposition for Dozens of Cancer Types | FDA
https://www.fda.gov/news-events/press-announcements/fda-grants-first-marketing-authorization-dna-test-assess-predisposition-dozens-cancer-types

First Blood Test for Dozens of Hereditary Cancers Approved by FDA | Inside Precision Medicine
https://www.insideprecisionmedicine.com/topics/oncology/first-blood-test-for-dozens-of-hereditary-cancers-approved-by-fda/

According to the Centers for Disease Control and Prevention (CDC), there are over 100 types of cancer, and it is the second leading cause of death in the United States after heart disease. Cancer can be caused by a variety of factors, but as research progresses, the identification of cancer-related genetic mutations is progressing, and the possibility of detecting them through testing is increasing. However, the number of essential genetic tests itself has not increased.

The newly approved blood test by the FDA is the Invitae Common Hereditary Cancers Panel , provided by the genomics healthcare company Invitae. This is a test panel that analyzes genes related to cancer. Blood samples collected during hospital consultations are sent to testing institutions, and 47 types of genetic mutations are identified based on past research data, prediction programs, and an in-house genetic mutation database based on interpretation standards established by professional organizations and certification committees. Identify genetic mutations and measure the risk of developing cancer.

According to the FDA, a premarket review of more than 9,000 clinical samples was conducted to verify the performance of the Invitae Common Hereditary Cancers Panel, which identified genetic mutations with greater than 99.0% accuracy in the samples tested. .

University of Vermont Medical Center researchers partner with Invitae to test cancer patients early, provide genetic counseling when causative mutations are identified, and conduct surveys to measure satisfaction with the testing process Did. As a result, more than 94% of patients rated that they were able to take the test within their scheduled appointment time, and 82% of participants said they were able to understand the test results.

'Invitae's test uses next-generation sequencing to assess multiple genes in a single test,' said Dr. Jeff Shuren, director of the FDA Center. It has been shown to be useful.'

The FDA says, ``The risks associated with testing are primarily the potential for false-positive or false-negative test results, as well as the potential for results to be misinterpreted. It could be done incorrectly, and if it's a false negative, the patient may not receive proper surveillance or clinical management.' Also, cancer is not necessarily caused only by genetic mutations, so even if a blood test shows negative, it is important to be aware that there are other risks of developing cancer other than genes. I urge you to be careful.

Furthermore, with the Invitae Common Hereditary Cancers Panel receiving approval from the FDA, similar blood tests must clear the FDA's 510(k) process and demonstrate substantial equivalence with the Invitae Common Hereditary Cancers Panel. More blood tests may be approved by the FDA in the future as they become available for marketing approval.

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