Genetics FAQs

Can PGT-M test for BRCA mutations?

Technically yes, but this raises questions that differ from testing for childhood-onset conditions, and it deserves a fuller discussion than a simple yes. BRCA is an adult-onset cancer predisposition. A child inheriting a BRCA variant would be expected to have a normal childhood and normal health for decades, with an increased โ€” not certain โ€” lifetime risk of breast, ovarian and some other cancers. Screening and risk-reducing options exist and continue to improve. That differs fundamentally from a condition causing illness in infancy, and it is why professional bodies treat adult-onset conditions differently. ACOG states that carrier screening panels should not include conditions primarily associated with adult-onset disease, giving BRCA as the example. ACMG requires that where adult-onset disorders are included in screening, patients must specifically consent, because of the implications for the health of the person being tested and their relatives. PGT-M for adult-onset conditions is permitted in many countries, and some families choose it โ€” often families who have watched the condition affect several generations. That is a legitimate position. Others decide differently, reasoning that a child would have decades of good health, that treatment will likely improve, and that they are uncomfortable selecting against a person who would live a full life. There is no correct answer, and this should be a considered decision with genetic counselling rather than a technical question answered by a laboratory. Local regulations may also apply โ€” check what is permitted where you are being treated.

Sources

  • ACOG Committee Opinion 690 / ACMG position statement โ€” carrier screening

Review by Fertility Connect Medical Team Pending

This information is general and does not replace advice from your own clinician.