September 29, 2023
The FDA authorized DNA test to detect various cancers
The Food and Drug Administration (FDA) authorized first-ever marketing authorization for a DNA test to assess the risk of various cancer types. The FDA granted approval for the Invitae Common Hereditary Cancers Panel, a diagnostic test capable of identifying genetic variations linked to an increased likelihood of developing particular types of cancer. This test can also identify hereditary variants linked to cancer in individuals with cancer. The test evaluates DNA from a blood sample to find variants in 47 genes associated with an increased risk of certain cancers.
Cancer is a diverse disease with over 100 types, making it the second leading cause of death in the United States after heart disease.
The Invitae Common Hereditary Cancers Panel helps identify inherited factors contributing to different cancer types. Patients should consult with healthcare professionals, such as genetic counselors, to discuss their personal or family history of cancer, as this information is crucial for interpreting test results. It's important to note that this test doesn't cover all known genes associated with cancer risk.
For this prescription test, samples are collected at a doctor's office and sent to a laboratory for analysis. The interpretation of the genetic variants is based on evidence from published literature, public databases, prediction programs, and Invitae's database, following established criteria. Some significant genes identified by the test include BRCA1 and BRCA2 (common in breast and ovarian cancer), Lynch syndrome-associated genes (MLH1, MSH2, MSH6, PMS2, and EPCAM), CDH1 (associated with gastric and lobular breast cancer), and STK11 (linked to Peutz-Jeghers Syndrome).
The FDA reviewed the Invitae Common Hereditary Cancers Panel using the De Novo premarket review pathway, designed for low to moderate-risk devices. Invitae tested over 9,000 clinical samples to validate the test's accuracy, achieving a rate of ≥99.0% for all tested variant types.
The main risks associated with this test are false positive and false negative results and potential misunderstandings of the results. False negatives may provide a false sense of security, leading to inadequate monitoring. False positives could result in unnecessary healthcare decisions. Additionally, since this test doesn't cover all known cancer risk genes and genetics are just one factor in cancer development, patients may misunderstand their cancer risk following a negative test result. These risks are mitigated through rigorous testing and clear labelling.
The FDA has established specific controls related to labelling and performance testing. For example, accuracy for reporting genetic variants must meet particular criteria. This classification allows for similar devices undergo a streamlined review process.