Preimplantation Genetic Testing for Polygenic Disease (PGT-P): Experiences, Attitudes, and Opinions of Genetic Counselor

A study by Pew Research Center found that a third of American adults report that they or someone they know have used fertility treatments to conceive a pregnancy. In vitro fertilization (IVF) is the most common form of assisted reproductive technology. Preimplantation genetic testing (PGT) is done prior to transferring an embryo to reduce the risk of a genetic or chromosomal disease in the resulting pregnancy. increase chances of successful implantation and viability of the pregnancy. PGT for polygenic diseases (PGT-P) aims to identify embryos that have an increased lifetime risk of developing specific polygenic diseases, such as type 2 diabetes or high cholesterol, by assigning them a polygenic risk score. Existing research has not elucidated genetic counselors’ understanding of and opinions towards PGT-P, as well as what barriers remain between adopting it as standard of care within the IVF realm. This study aimed to determine genetic counselors’ experiences, attitudes, and opinions of preimplantation genetic testing for polygenic disease, and if they believe it is acceptable in any circumstances.

A survey was distributed to all members of the National Society of Genetic Counselors (NSGC) and the American Society of Reproductive Medicine (ASRM) Genetic Counseling Professional Group. Data were collected between September 29, 2021 and November 24, 2021 and analyzed via the SPSS statistical software version 27. Forty-three respondents met inclusion criteria and reported being a board-certified or eligible genetic counselor practicing and having practiced in the prenatal/maternal-fetal medicine (MFM) and/or assisted reproductive technology (ART)/in vitro fertilization (IVF)/preimplantation genetic testing (PGT) specialties. The majority of participants (35%, 48%, 53%, respectively) were between the ages of 24 and 29, practiced genetic counseling between one and five years, and worked primarily with a maternal-fetal medicine group. Respondents were asked about their knowledge of and experience with counseling patients on preimplantation genetic testing techniques, polygenic diseases, and polygenic risk scores. Participants were provided with a list of 17 polygenic diseases and asked to select those that they believed were acceptable to test via PGT-P. The majority of participants (72%) believed that testing was not acceptable for any of the diseases, with the major exception being type 1 diabetes, but that genetic counselors must conduct pre- and post-test counseling for individuals who wish to pursue PGT-P.

Eighty-four percent of participants believe that regulations for the use of PGT-P should be set by professional organizations, such as the NSGC or ASRM. Future studies should focus on determining how to ensure individuals who pursue PGT-P fully understand the benefits, risks, and limitations of such testing.