Scientific Literature
Risk Reduction Estimates
E. Widen, L. Lello, T. G. Raben, L. C. A. M. Tellier, and S. D. H. Hsu. Polygenic Health Index, General Health, and Disease Risk. Scientific Reports (2022). (LifeView)
L. Lello, M. Hsu, E. Widen, and T. G. Raben. Sibling Variation in Phenotype and Genotype: Polygenic Trait Distributions and DNA Recombination Mapping with UK Biobank and IVF Family Data. (2022). (LifeView)
T. Lencz, D. Backenroth, …, O. Zuk, and S. Carmi. Utility of polygenic embryo screening for disease depends on the selection strategy. eLife (2021).
Related: J. M. Fletcher, Y. Wu, and Q. Lu. Polygenic Screening: What’s the use? eLife (Insight; 2021). Online risk reduction calculator
P. Turley, M. N. Meyer, …, D. Laibson, and P. M. Visscher. Problems with Using Polygenic Scores to Select Embryos, The New England Journal of Medicine (2021).
Related: Use of Polygenic Scores to Select Embryos The New England Journal of Medicine (Correspondence; 2021)
N. R. Treff, J. Eccles, …, J. Xu, and L. C. A. M. Tellier. Preimplantation Genetic Testing for Polygenic Disease Relative Risk Reduction: Evaluation of Genomic Index Performance in 11,883 Adult Sibling Pairs. Genes (2020). (LifeView)
E. Karavani, O. Zuk, …, T. Lencz, and S. Carmi. Screening human embryos for polygenic traits has limited utility. Cell (2019).
Related: J. Kaiser. Screening embryos for IQ and other complex traits is premature, study concludes. Science (News; 2019).
N. R. Treff, J. Eccles, …, S. Hsu, and L. C. A. M. Tellier. Utility and First Clinical Application of Screening Embryos for Polygenic Disease Risk Reduction. Frontiers in Endocrinology (2019). (LifeView)
C. Shulman and N. Bostrom. Embryo Selection for Cognitive Enhancement: Curiosity or Game-changer? Global Policy (2014).
See also: Gwern’s blog on embryo selection
Implementation
Y. Xia, V. Gonzalez-Pena, …, B. Behr, and C. Gawad. Genome-Wide Disease Screening of Early Human Embryos at Base-Pair Resolution (2022). (Orchid Health)
A. Kumar, K. Im, …, P. C. Klatsky, and M. Rabinowitz. Whole-genome risk prediction of common diseases in human preimplantation embryos. Nature Medicine (2022). (MyOme)
Related: The alarming rise of complex genetic testing in human embryo selection Nature (Editorial; 2022).
Related: J. Johnston and L. J. Matthews. Polygenic embryo testing: understated ethics, unclear utility. Nature Medicine (News and Views; 2022).
Related: J. Cousin-Frankel. Scientists say they can read nearly the whole genome of an IVF-created embryo Science (News; 2022).
Related: Still doubts over embryo selection based on PGT for polygenic conditions. ESHRE Focus on Reproduction (2022).
N. R. Treff, J. Eccles, …, S. Hsu, and L. C. A. M. Tellier. Utility and First Clinical Application of Screening Embryos for Polygenic Disease Risk Reduction. Frontiers in Endocrinology (2019). (LifeView)
N. R. Treff, R. Zimmerman, …, S. Hsu, and L. C. A. M. Tellier. Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform. European Journal of Medical Genetics (2019). (LifeView)
Attitudes, Ethics, and Policy
Attitudes
M. N. Meyer, T. Tan, D. J. Benjamin, D. Laibson, and P. Turley. Public views on polygenic screening of embryos. Science (2023).
K. Kamenova and H. Haidar. The First Baby Born After Polygenic Embryo Screening: Key Issues Through the Lens of Experts and Science Reporters. Voices in Bioethics (2022).
S. Pereira, S. Carmi, G. Lázaro-Muñoz, and T. Lencz. Polygenic embryo screening: four clinical considerations warrant further attention. Human Reproduction (2022).
M. Siermann, O. Tšuiko, J. R. Vermeesch, T. Raivio, and P. Borry. A review of normative documents on preimplantation genetic testing: Recommendations for PGT-P. Genetics in Medicine (2022).
M. Siermann, Z. Claesen, L. Pasquier, T. Raivio, O. Tšuiko, J. R. Vermeesch, and P. Borry. A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing. Journal of Community Genetics (2022).
T. Pagnaer, M. Siermann, P. Borry, and O. Tšuiko. Polygenic risk scoring of human embryos: a qualitative study of media coverage. BMC Medical Ethics (2021).
S. Zhang, R. A. Johnson, J. Novembre, E. Freeland, and D. Conley. Public attitudes toward genetic risk scoring in medicine and beyond. Social Science & Medicine (2021)
M. N. Meyer, T. Tan, D. J. Benjamin, D. Laibson, and P. Turley. Public views on polygenic screening of embryos. Science (2023).
Ethics
M. de Souza. Testing Embryos for IQ. Law, Technology and Humans (2022).
G. Lázaro-Muñoz, S. Pereira, S. Carmi, and T. Lencz. Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology. Genetics in Medicine (2021).
J, Anomaly. What is Informed Choice? Polygenic Risk and Reproductive Autonomy. Fertility & Sterility Dialog (2023).
Policy
T. Lencz, M. Sabatello, A. Docherty, R. E. Peterson, T. Soda, …, C. Walss-Bass, and L. K. Davis. Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits. The Lancet Psychiatry (2022).
A. Polyakov, D. J. Amor, …, Y. Mizrachi, and G. Rozen. Polygenic risk score for embryo selection—not ready for prime time. Human Reproduction (2022).
N. R. Treff, J. Savulescu, I. de Melo-Martin, L. P. Shulman, and E. C. Feinberg. Should preimplantation genetic testing for polygenic disease be offered to all – or none? Fertility and Sterility (2022).
ISPG Ethics Committee. Advisory on the Use of Polygenic Risk Scores to Screen Embryos for Adult Mental Conditions. (2021).
Munday S, Savulescu J. Three models for the regulation of polygenic scores in reproduction. J Med Ethics. (2021)
F. Forzano, O. Antonova, …, C. van El, and M. Genuardi (on behalf of the Executive Committee of the European Society of Human Genetics and the Public and Professional Policy Committee of the European Society of Human Genetics). The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. European Journal of Human Genetics (2021).
Related: ESHRE supports the position of ESHG on embryo selection based on polygenic risk scores (ESHRE)
Related: L. C. A. M. Tellier, N. R. Treff, S. Hsu, L. Lello, and E. Widen Scientific refutation of ESHG statement on embryo selection. European Journal of Human Genetics (2022).
Related: F. Forzano, O. Antonova, …, C. van El, and M. Genuardi. Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’. European Journal of Human Genetics (2022).
Commentaries by LifeView and Others
Commentaries by LifeView
L. C. A. M. Tellier, J. Eccles, N. R. Treff, L. Lello, S. Fishel, and S. Hsu. Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations. Genes (2021).
N. R. Treff. Polygenic risk scoring in the human embryo: reproductive genetics, final frontier? F&S Science. (2020)
N. Treff, D. Marin, L. Lello, S. Hsu, and L. C. A. M. Tellier. Preimplantation genetic testing for polygenic disease risk. Reproduction (2020).
Other
C. B. Ogbunugafor and M. D. Edge. GATTACA as a lens of contemporary genetics: Marking 25 years into the film’s “not-too-distant” future. (2022)