The Food and Drugs Administration (FDA) has approved the marketing of the first blood test that can help identify hundreds of hereditary variants potentially associated with cancer. The “Invitae Common Hereditary Cancers Panel” evaluates a blood sample to identify DNA variants in 47 genes associated with an elevated risk of developing certain types of cancer.
According to the Centers for Disease Control and Prevention (CDC) in the United States, there are more than 100 different types of cancer, which is the second leading cause of death in the country, behind only heart disease. However, the number of hereditary cancer variants has been steadily increasing.
Some of the clinically most significant genes identified by the test include: BRCA1 and BRCA2, which are genes with known associations with hereditary breast and ovarian cancer syndrome, genes associated with Lynch syndrome (MLH1, MSH2, MSH6, PMS2, and EPCAM), CDH1 (primarily associated with hereditary diffuse gastric cancer and lobular breast cancer), and STK11 (associated with Peutz-Jeghers syndrome).
The risks associated with the test include false positive or false negative results, as well as possible misunderstanding of the results. False negative test results can provide a false sense of security, and these patients may not receive the necessary surveillance or appropriate clinical treatment.
Source: CNBC