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Who may be offered presymptomatic genetic testing?

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BRCA2 tumor suppressor gene on chromosome 13 — human genetic disease Photomicrograph of the *BRCA2* tumor suppressor gene on chromosome 13 of the human genome. Inactivation of this growth-regulating gene is associated with a higher risk of developing breast cancer.

Presymptomatic genetic testing is generally offered to individuals who are considered at risk for developing a specific genetic disorder based on their personal or family history, even if they are currently clinically healthy.1

In medical practice, this testing is typically directed toward adults who have a documented increased risk for a condition, such as those with a family history of early-onset colorectal cancer or other late-onset genetic diseases like Huntington disease. The primary goal is to enable early intervention, such as heightened medical surveillance or preventive actions, which can potentially mitigate or prevent the clinical onset of symptoms.21

Because receiving such information can be traumatic—particularly when dealing with incurable conditions—genetic counseling is strongly advised before testing. Counselors help individuals understand their risks, navigate the emotional implications of the results, and make informed decisions regarding their health and future. While some societies have implemented policies to protect individuals from discrimination by employers or insurance companies based on these test results, the decision to undergo testing remains a complex balance of personal, ethical, and medical considerations.231