Key Takeaways
- Genetic testing can be an effective tool to inform a patient’s diagnosis and treatment. Insurance providers continually look for novel ways to identify individuals that may benefit from early intervention for specific conditions.
- Experts recommend that patients be advised by a genetic counselor to help interpret the test results and what they may mean for future health care.
- Genetic testing products are rapidly entering the market. Not all genetic tests are supported by strong evidence for their clinical use.
Background
Genetic testing, which identifies changes in genes, chromosomes, or proteins, can be an effective tool to inform a patient’s diagnosis and treatment plan. Many types of genetic tests are now available that can be used to diagnose disease, determine the severity of a disease, identify gene changes that may increase a patient’s risk of developing disease, and identify gene disorders that may be passed on to offspring.
For some conditions, genetic testing has already been integrated into care delivery. For example, women with a family history of breast cancer are commonly tested for BRCA1/2 gene mutations. Similarly, genetic tests for colorectal cancer are often provided to individuals with a family history of certain types of colorectal cancer (e.g., familial adenomatous polyposis and Lynch syndrome). Results can inform treatment, empower patients to make lifestyle changes, or increase the frequency of screening to improve their chances for early detection of a disease.