TY - JOUR
T1 - Offering preimplantation genetic testing for monogenic disorders (PGT-M) for conditions with reduced penetrance or variants of uncertain significance
T2 - Ethical insight from U.S. laboratory genetic counselors
AU - Porto, Anthony
AU - Gaber Caffrey, Rikki
AU - Crowley-Matoka, Megan
AU - Spencer, Sara
AU - Li, Mindy
AU - Propst, Lauren
N1 - Funding Information:
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.
Funding Information:
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.
Publisher Copyright:
© 2021 National Society of Genetic Counselors.
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - ethics
KW - PGT-M genetic counseling
KW - preimplantation genetic testing
KW - reduced penetrance
KW - variant of uncertain significance (VUS)
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UR - http://www.scopus.com/inward/citedby.url?scp=85111767700&partnerID=8YFLogxK
U2 - 10.1002/jgc4.1482
DO - 10.1002/jgc4.1482
M3 - Article
C2 - 34347921
AN - SCOPUS:85111767700
SN - 1059-7700
JO - Journal of Genetic Counseling
JF - Journal of Genetic Counseling
ER -