Patient education and informed consent for preimplantation genetic diagnosis: health literacy for genetics and assisted reproductive technology

Abstract

Purpose: Innovative applications of genetic testing have emerged within the field of assisted reproductive technology through preimplantation genetic diagnosis. As in all forms of genetic testing, adequate genetic counseling and informed consent are critical. Despite the growing recognition of the role of informed consent in genetic testing, there is little data available about how this process occurs in the setting of preimplantation genetic diagnosis.

Methods: A cross-sectional study of in vitro fertilization clinics offering preimplantation genetic diagnosis in the United States was conducted to assess patient education and informed consent practices. Descriptive data were collected with a self-administered survey instrument.

Results: More than half of the clinics offering preimplantation genetic diagnosis required genetic counseling before preimplantation genetic diagnosis (56%). Genetic counseling was typically performed by certified genetic counselors (84%). Less than half (37%) of the clinics required a separate informed consent process for genetic testing of embryonic cells. At a majority of those clinics requiring a separate informed consent for genetic testing (54%), informed consent for preimplantation genetic diagnosis and genetic testing took place as a single event before beginning in vitro fertilization procedures.

Conclusions: The results suggest that patient education and informed consent practices for preimplantation genetic diagnosis have yet to be standardized. These findings warrant the establishment of professional guidelines for patient education and informed consent specific to embryonic genetic testing.