Abstract
Preimplantation genetic testing for monogenic disorders (PGT-M) was originally developed to identify embryos affected with serious childhood-onset disorders, but its use has recently broadened. Guidance on the use of PGT-M in the United States (U.S.) is currently limited, with no formal laws or guidelines established on its use. The goals of this study were to determine for which types of conditions U.S. laboratories currently do not offer PGT-M, to explore ethical considerations U.S. laboratory genetic counselors (GCs) take into consideration when deciding to accept or reject a PGT-M request, and to explore whether U.S. laboratory GCs believe PGT-M should be offered for conditions with reduced penetrance or for variants of uncertain significance (VUS). Qualitative analysis of semi-structured interviews with nine genetic counselors, from five different PGT-M laboratories, was conducted. Participants were required to be GCs working at a PGT-M laboratory in the U.S. and either actively counsel patients on PGT-M or determine a patient's eligibility for PGT-M. Two participants reported their separate laboratories have no limitations for allowable PGT-M testing, while the other seven participants representing three other laboratories reported having limitations. The main ethical consideration GCs reported considering when deciding to accept or reject a PGT-M request was patient autonomy, with a focus on the patient understanding risks of the testing. All participants reported believing PGT-M should be allowable for conditions with reduced penetrance and VUS, with all participants stating their respective laboratories allow for this currently. However, all participants reported a lack of sufficient guidelines and that having guidelines from a professional organization would be beneficial to their practice. In conclusion, lack of current guidelines in the United States has created discrepancies between PGT-M laboratories. PGT-M laboratory GCs support the use of PGT-M for conditions with reduced penetrance and VUS with informed consent. The need for guidelines is supported.
Original language | English (US) |
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Pages (from-to) | 261-268 |
Number of pages | 8 |
Journal | Journal of Genetic Counseling |
Volume | 31 |
Issue number | 1 |
DOIs | |
State | Published - Feb 2022 |
Funding
We would like to thank the NSGC ART/Infertility SIG for funding for this project. This work was conducted to fulfill a degree requirement or as part of training. Anthony Porto has received a grant from the NSGC ART/Infertility SIG for funding for this project. He is employed by Reproductive Medicine Associates of Connecticut. Reproductive Medical Associates of Connecticut did not provide any funding for this study. Rikki Gaber Caffrey, Megan Crowley‐Matoka, Mindy Li, and Sara Spencer declare that they have no conflict of interest. Lauren Propst was employed by Igenomix USA at the time of the study. Igenomix USA did not provide any funding for this study. She is now employed at BillionToOne, Inc. BillionToOne, Inc. did not provide any funding for this study.
Keywords
- PGT-M genetic counseling
- ethics
- preimplantation genetic testing
- reduced penetrance
- variant of uncertain significance (VUS)
ASJC Scopus subject areas
- Genetics(clinical)