Cited by 187Prenatal Screening and DiagnosticsAssisted Reproductive Technology and Twin PregnancyReproductive Health and Technologies

Problems with Using Polygenic Scores to Select Embryos

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Turley, Patrick, Meyer, Michelle N., Wang, Nancy, Cesarini, David, Hammonds, Evelynn, Martin, Alicia R., Neale, Benjamin M., Rehm, Heidi L. +5 more·2021·New England Journal of Medicine

Abstract

Companies have recently begun to sell a new service to patients considering in vitro fertilization: embryo selection based on polygenic scores (ESPS). These scores represent individualized predictions of health and other outcomes derived from genomewide association studies in adults to partially predict these outcomes. This article includes a discussion of many factors that lower the predictive power of polygenic scores in the context of embryo selection and quantifies these effects for a variety of clinical and nonclinical traits. Also discussed are potential unintended consequences of ESPS (including selecting for adverse traits, altering population demographics, exacerbating inequalities in society, and devaluing certain traits). Recommendations for the responsible communication about ESPS by practitioners are provided, and a call for a society-wide conversation about this technology is made. (Funded by the National Institute on Aging and others.).

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Crossref · 10.1056/nejmsr2105065

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  • Our results do not support any immediate medical or clinical applications, such as polygenic prediction in direct-to-consumer services.

    “our results do not support any immediate medical or clinical applications, such as polygenic prediction in direct-to-consumer services49,50.”

    From Shared genetic architectures of educational attainment in East Asian and European populations (2024) · cites this paper as [49]

    The Clinical Outcomes section (page unavailable) says the clinical utility of polygenic scores among adults still needs research and that predictive power is lower for embryo selection. The Discussion (page unavailable) cautions companies offering embryo-selection services about communicating uncertain benefits. These passages support caution about that application, but not the broader claim that the paper's results rule out any immediate medical or clinical use of polygenic prediction, including direct-to-consumer services generally. (LLM, conf=0.83)

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10 of the 46 references couldn’t be matched to a known paper.

Research works printed but not linked: 3

  1. [22]Almond D, Doyle JJ Jr, Kowalski AE, Williams H. Estimating marginal returns to medical care: evidence from at-risk newborns. Q J Econ 2010; 125: 591– 634. 20634927 PMC2903901
  2. [28]Lou H Eugenics then and now: constitutional limits on the use of reproductive screening technologies. Hastings Constit Law Q 2015; 42: 393– 414 (https://repository.uchastings.edu/hastings_constitutional_law_quaterly/vol42/iss2/4/).
  3. [39]Gigerenzer G, Gaissmaier W, Kurz-Milcke E, Schwartz LM, Woloshin S. Helping doctors and patients make sense of health statistics. Psychol Sci Public Interest 2007; 8: 53– 96. 26161749

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Authors
Turley, P., Meyer, M. N., Wang, N., Cesarini, D., Hammonds, E., Martin, A. R., Neale, B. M., Rehm, H. L., Wilkins-Haug, L., Benjamin, D. J., Hyman, S., Laibson, D., & Visscher, P. M.
Affiliations
Broad Institute (US)
Venue
New England Journal of Medicine
Published
2021-07
Volume
385
Issue
1
Pages
78-86
ISSN
  • 0028-4793 (ISSN-L)
  • 1533-4406
OpenAlex
W3177492916
Cited by
187
References
46
Citations by year
2026: 26 · 2025: 25 · 2024: 42 · 2023: 46 · 2022: 39 · 2021: 9
FWCI
33.64
Type
journal article
Language
en
Open access
Locations
  • New England Journal of Medicine (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
Funders
  • Sage Foundation
  • Open Philanthropy Project (010623-00001)
  • Stanley Family Foundation
  • Medical Research Council (1113400)
  • National Health and Medical Research Council (1113400)
  • National Institute on Aging (R24AG065184, R00AG062787, K99AG062787, R56AG042568, R01AG042568)
  • National Institute of Mental Health (K99MH117229)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Assisted Reproductive Technology and Twin Pregnancy
  • Health Sciences › Medicine › Reproductive Medicine › Reproductive Health and Technologies
Keywords
polygenic risk score, embryo selection, in vitro fertilization, predictive power, genome-wide association study, unintended consequences, demographics, social inequality, responsible communication, reproductive technology ethics
MeSH terms
Educational Status, Embryo, Mammalian, Female, Fertilization in Vitro, Genetic Testing, Humans, Phenotype, Predictive Value of Tests, Pregnancy, Genetic Variation, Preimplantation Diagnosis, Multifactorial Inheritance, Genome-Wide Association Study, Gene-Environment Interaction

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