Abstract

Preimplantation genetic testing for monogenic disease (PGT-M) can detect both childhood and adult-onset diseases. Unlike most childhood-onset genetic disorders, adult-onset conditions are typically dominant (presenting in 50% of offspring) and are associated with disease-free life until some point in adulthood. Examples discussed include BRCA mutation-associated cancers and Huntington’s disease. Ethical questions explored include: (1) the implications on a patient’s own moral value when they use PGT-M to rid a future child of a trait they possess, (2) exercising reproductive autonomy to undergo PGT-M, and to select an affected (or unaffected) embryo balanced against professional autonomy and procreative beneficence, (3) timing for information-sharing with future children, (4) the potential that an embryo biopsy may harm the embryo or pregnant person, (5) a duty to maximize benefit and minimize harm to a future child and (6) justice issues given the high cost of PGT-M and the fact that it is frequently not covered by insurance. Patients should receive extensive counseling by genetic counsellors and physicians that involves the exploration of testing options other than PGT-M. The ASRM Ethics Committee considers PGT-M for adult-onset disease ethically justifiable when there are no known interventions for the disease or when the available interventions are ineffective or significantly burdensome (Fert Steril 109:989–992 2018). Physicians may decline to transfer embryos that carry genetic mutations but should share this position with the patient(s) in a pre-IVF consult and should remain open to referring to other qualified providers in order to preserve patient autonomy.