Pre-implantation testing of embryos can detect genetic anomalies linked to serious health-affecting disorders. While patients rarely request that such embryos be transferred, it does happen.

“The ethical conflicts are patient autonomy conflicting with physician autonomy, and controversy about what is in the best interest of a resulting child,” says Elizabeth S. Ginsburg, MD, professor of obstetrics, gynecology, and reproductive biology at Harvard Medical School in Boston. Ginsburg also is medical director of the assisted reproductive technologies program at Brigham and Women’s Hospital.

A recently updated policy statement from the American Society for Reproductive Medicine addresses this difficult situation. The statement concludes that in most cases, it is ethically permissible for providers to assist, or decline to assist, in transferring such embryos.1

“Patients electing to have their embryos screened for a particular genetic disease are always carriers for that disease, and have had extensive genetic counseling prior to IVF treatment,” notes Ginsburg, one of the policy statement’s authors. In some cases, both parents are healthy but carry a recessive genetic mutation. In other cases, one parent may have a disease due to a dominant gene.

Patients who otherwise are fertile generally would not request transfer of an embryo with a known genetic disease. “If they were willing to risk having a baby with the disease, they would conceive on their own without IVF,” says Ginsburg.

The dilemma arises for women or couples who are not fertile and may be choosing a baby affected with a disease over having no baby.

“Another patient population who may choose to have an embryo transferred is a patient who is a carrier of a dominant gene that increases risk of disease, but does not definitively cause disease,” says Ginsburg. A common example includes BrCA 1 and 2 mutations, which greatly increase lifetime risk of developing cancers — particularly breast and ovarian cancer in women.

“Some IVF practitioners may not be comfortable knowingly transferring embryos that will cause a baby to have a chronic illness such as cystic fibrosis, and may elect not to perform such a transfer,” says Ginsburg.

Patient counseling is critical in all cases. “At the outset of treatment, the patient should be informed of that clinic or practitioner’s practice,” says Ginsburg.

REFERENCE

1. Ethics Committee of the American Society for Reproductive Medicine. Transferring embryos with genetic anomalies detected in preimplantation testing: an Ethics Committee Opinion. BMC Med 2017; 15(1):28.

SOURCE

• Elizabeth S. Ginsburg, MD, Medical Director, Assisted Reproductive Technologies Program, Brigham and Women’s Hospital, Boston. Phone: (617) 732-4222. Email: eginsburg@bwh.harvard.edu.