Genetic Testing

Genetic testing analyzes your DNA to search for specific inherited variants — changes in genes that may increase your risk of developing certain conditions. The test itself is straightforward from a patient perspective: a sample of blood or saliva is collected, sent to a specialized laboratory, and analyzed. Results typically return within a few weeks. The complexity lies not in collecting the sample but in interpreting what the results mean for you and your family.

Several types of results are possible. A positive result means a known harmful mutation was found — not that you have cancer, but that your risk is meaningfully elevated above average. A negative result means no known harmful mutation was detected in the genes tested, though it does not eliminate all risk (since not all cancer-causing mutations are yet known, and not all genes may have been tested). A variant of uncertain significance (VUS) means a change was found in the DNA, but scientists do not yet know whether it is harmful — a genuinely uncertain result that can be updated as research advances.

Panel testing — analyzing dozens of cancer-risk genes simultaneously — has become increasingly common and affordable. Genes tested may include BRCA1, BRCA2, PALB2, CHEK2, ATM, CDH1, PTEN, MLH1, MSH2, and others, depending on the panel. Each gene confers a different degree of risk elevation, and not all are equally well understood. This is one of the reasons genetic counseling before and after testing is so valuable — the interpretation is rarely simple.

Genetic testing has the potential to be genuinely transformative — giving you advance knowledge of elevated risk that allows you to act before a cancer develops. People who test positive for BRCA1 or BRCA2 mutations, for example, have a range of evidence-based options: more intensive surveillance with alternating mammography and MRI, chemoprevention with medications that reduce risk, or risk-reducing surgery (prophylactic mastectomy or salpingo-oophorectomy). Each of these strategies has tradeoffs, and none is the right choice for everyone — but having the information means having the choice.

Testing also has implications beyond you. A BRCA mutation is inherited, meaning your parents, siblings, and children each have a 50 percent chance of carrying the same mutation. Sharing genetic information with family members — while navigating the emotional complexity that comes with that — is one of the most significant ripple effects of a positive result. Genetic counseling helps you think through how and when to have those conversations, and what they might mean for the people you love.