Clinical genetic counselors' perspectives on preimplantation genetic testing for monogenic conditions with reduced penetrance: A mixed methods study

Abstract Preimplantation genetic testing for monogenic disorders (PGT‐M) can be performed on embryos known to be at high risk of inheriting a single gene condition, aiming to minimize the chance of a pregnancy affected by the disorder. While historically focused on reproductive risk reduction for well‐understood and highly penetrant diseases, PGT technologies are now being considered for conditions with reduced penetrance and variable disease severity. This shift in utilization has been attributed to routine use of expanded carrier screening and panel‐based testing. In the US, existing guidelines allow for clinician discretion on the appropriate use of PGT‐M for various clinical indications. We surveyed US‐based clinical genetic counselors (GCs) from August 2023 through November 2023 and received 86 completed responses. A mixed methods convergent design was utilized to create a survey that contained 24 closed‐ended and 4 free‐response case scenario questions. Quantitative data from closed‐ended questions were analyzed using descriptive statistics, and qualitative data from free‐response cases were analyzed using inductive content analysis. The majority of GCs agreed that the severity of genetic conditions (77.9%) and the penetrance of a variant (76.8%) should be criteria considered for PGT‐M regulation. However, respondents disagreed (44.2%) over whether allele frequency should be included in PGT‐M regulation criteria. Several content categories arose from free text responses; select categories included (1) Upholding patient autonomy is imperative ; (2) Any clinical manifestations sufficient for offering PGT‐M ; (3) Treatable conditions have different considerations ; (4) Pretest counseling is a crucial component ; (5) Facilitating PGT‐M discussions may not protect nonmaleficence . Lack of standardization in how PGT‐M is offered may lead to further inequities in patient care. The variation in agreement among GC respondents demonstrates the need for additional education and professional guidance on the utilization of PGT‐M.