The Invitae test is instrumental in confirming the presence or absence of these genetic variations in 47 target genes for individuals potentially at risk of hereditary cancers. Dr. Lori Minasian, Deputy Director of National Cancer Institute’s Division of Cancer Prevention, highlighted the test’s role in helping individuals comprehend their level of cancer risk. Individuals who learn from genetic testing that they have inherited cancer-related gene variants may be able to take steps to reduce the risk of the disease and detect it early. To access the test, individuals must obtain a prescription from a healthcare provider, emphasizing the need for consultation with a genetic counselor for those concerned about their cancer risk based on family history. The comprehensive panel includes key genes such as BRCA1 and BRCA2, associated with breast, ovarian, and various cancers, as well as genes linked to Lynch syndrome, which heightens colorectal cancer risk at an earlier age.
While the test’s authorization is a significant stride in genetic cancer assessment, the FDA cautions about potential false results and highlights the test’s limitations. Despite these considerations, the test’s accurate performance, validated through analyzing over 9,000 samples with a success rate exceeding 99%, underscores its reliability. Additionally, the test’s capacity to unveil new genetic variants associated with cancer risk opens avenues for ongoing research and better-informed clinical care decisions. As the science progresses, so does our understanding of these variants’ potential implications, offering a glimmer of hope in the realm of personalized cancer risk assessment and management.
Reference: https://www.cancer.gov/news-