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. 2025 Jun;34(3):e70072.
doi: 10.1002/jgc4.70072.

Preimplantation genetic testing for polygenic disorders: Viewpoints of reproductive genetic counselors and reproductive endocrinology and infertility specialists in the United States

Saanchi Shah  1 , Rita M Cantor  2 , Molly Quinn  3 , Jessica Shamshoni  2 , Christina G S Palmer  2
Affiliations

Preimplantation genetic testing for polygenic disorders: Viewpoints of reproductive genetic counselors and reproductive endocrinology and infertility specialists in the United States

Saanchi Shah et al. J Genet Couns. 2025 Jun.

Abstract

The purpose of this study was to assess awareness of preimplantation genetic testing (PGT) for polygenic disorders (PGT-P) and viewpoints surrounding PGT among reproductive genetic counselors (GCs) and reproductive endocrinology infertility physicians (REIs) in the United States. GCs and REIs were recruited via professional groups to complete an anonymous online survey that assessed awareness of PGT-P, motivating factors that are considered in recommending PGT-P and views on clinical use of PGT. In our sample of 82 GCs and 54 REIs, 80% reported having heard of PGT-P, 52% answered yes or maybe to whether patients should have the option of PGT-P for polygenic conditions, and only 18% answered yes or maybe to whether they would recommend it to their patients. REI participants (28%) were more likely to endorse recommending PGT-P in the context of in vitro fertilization + PGT for other indications compared to GC participants (12%) (p = 0.02). Advanced egg age and prior pregnancy history were the motivating factors that significantly differed between REI and GC participants in recommending PGT-P. In contrast to PGT-P, most participants (>96%) support patients having the option of PGT for aneuploidy, monogenic disorders of childhood and adult-onset conditions, and structural rearrangements. These findings warrant further research to better understand if GCs and REIs would recommend PGT-P in the future when more refined genetic risk estimates are developed.

Keywords: GCs; PGT‐P; REIs; in vitro fertilization; polygenic risk score; preimplantation genetic testing.

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Conflict of interest statement

Authors have no conflicts to declare.

References

    1. Barlevy, D. , Cenolli, I. , Campbell, T. A. , Furrer, R. A. , Kostick‐Quenet, K. , Carmi, S. , Lencz, T. , Pereira, S. , & Lazaro‐Munoz, G. (2023). Polygenic embryo screening: Patient interest and clinician reservations. Fertility and Sterility, 120(4), e13–e14. 10.1016/j.fertnstert.2023.08.092 - DOI - PMC - PubMed
    1. Bayefsky, M. (2018). Who should regulate preimplantation genetic diagnosis in the United States? AMA Journal of Ethics, 20(12), E1160–E1167. 10.1001/AMAJETHICS.2018.1160 - DOI - PubMed
    1. CDC . (n.d.). ART success rates . https://www.cdc.gov/art/artdata/index.html
    1. Cooper, R. S. (2004). Genetic factors in ethnic disparities in health. In Anderson N. B., Bulatao R. A., & Cohen B. (Eds.), Critical perspectives on racial and ethnic differences in health in late life (pp. 269–309). National Academies Press . https://www.ncbi.nlm.nih.gov/books/NBK25517/ - PubMed
    1. Daar, J. , Benward, J. , Collins, L. , Davis, J. , Davis, O. , Francis, L. , Gates, E. , Ginsburg, E. , Gitlin, S. , Klipstein, S. , McCullough, L. , Paulson, R. , Reindollar, R. , Ryan, G. , Sauer, M. , Tipton, S. , Westphal, L. , & Zweifel, J. (2018). Use of preimplantation genetic testing for monogenic defects (PGT‐M) for adult‐onset conditions: An ethics committee opinion. Fertility and Sterility, 109(6), 989–992. 10.1016/J.FERTNSTERT.2018.04.003 - DOI - PubMed