(Abstracted from Obstet Gynecol 2018;131:e31–e34)
Increasing numbers of patients with ovarian, breast, endometrial, and colon cancer are being identified as having specific heritable genetic mutations that place their family members at risk of having such mutations. Cascade testing is the performance of genetic counseling and testing blood relatives of individuals who have been identified with specific genetic mutations. Individuals tested are not known to have the mutation. Testing and other interventions may save lives and improve health and quality of life for family members of individuals identified with a specific genetic mutation. Access to screening allows relatives of tested patients lacking the identified mutation to avoid potentially unnecessary further screening, medications, and surgery. Cascade testing is cost-effective in part because testing for specific mutations identified in the affected relative is less expensive than whole-gene sequencing.