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Patient interest in and clinician reservations on polygenic embryo screening: a qualitative study of stakeholder perspectives

  • Genetics
  • Published:
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Abstract

Purpose

We explored and compared perspectives of reproductive endocrinology and infertility specialists (REIs) and in vitro fertilization (IVF) patients regarding polygenic embryo screening (PES), a new type of preimplantation screening that estimates the genetic chances of developing polygenic conditions and traits in the future.

Methods

Qualitative thematic analysis of semi-structured interviews with US-based REIs and IVF patients.

Results

Clinicians and patients often held favorable views of screening embryos for physical or psychiatric conditions, though clinicians tended to temper their positive attitudes with specific caveats. Clinicians also expressed negative views about screening embryos for traits more frequently than patients, who generally held more positive views. Most clinicians were either unwilling to discuss or offer PES to patients or were willing to do so only under certain circumstances, while many patients expressed interest in PES. Both stakeholder groups envisioned multiple potential benefits or uses of PES and raised multiple potential, interrelated concerns about PES.

Conclusion

A gap exists between clinician and patient attitudes toward PES; clinicians generally maintained reservations about such screening and patients indicated interest in it. Clinicians and patients sometimes imagined using PES to prepare for the birth of a predisposed or “affected” individual—a rationale that is often associated with prenatal testing. Many clinicians and patients held different attitudes depending on what is specifically screened, despite the sometimes blurry distinction between conditions and traits. Considerations raised by clinicians and patients may help guide professional societies in developing guidelines to navigate the uncertain terrain of PES.

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Data availability

De-identified coded transcript excerpts will be made available upon reasonable request to the corresponding author.

Notes

  1. While we recognize that the socio-ethical implications of this technology are similar to those of other types of preimplantation genetic tests, our use of the acronym PES (vs. PGT-P) highlights its clinical and technical differences from other types of preimplantation genetic tests.

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Acknowledgements

The authors thank the REIs and IVF patients that participated in this study, as well as Jason Bach, Arturo Balaguer, Jonathan Frumovitz, and Page Trotter for their assistance with data analysis and Ana Battaglino for her feedback on the manuscript.

Funding

This work was supported by National Human Genome Research Institute, R01HG011711, Todd Lencz.

Author information

Author notes

  1. G. Lázaro-Muñoz and S. Pereira contributed equally to this work

Authors and Affiliations

  1. Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, 77030, USA

    D. Barlevy, K. Kostick-Quenet & S. Pereira

  2. Center for Bioethics, Harvard Medical School, Boston, MA, 02115, USA

    I. Cenolli, T. Campbell, R. Furrer & G. Lázaro-Muñoz

  3. Sociology Department, University of California Berkeley, Berkeley, CA, 94720, USA

    M. Mukherjee

  4. Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, 9112102, Jerusalem, Israel

    S. Carmi

  5. Institute of Behavioral Science, The Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY, 11030, USA

    T. Lencz

  6. Departments of Psychiatry and Molecular Medicine, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY, 11549, USA

    T. Lencz

  7. Department of Psychiatry, Division of Research, The Zucker Hillside Hospital Division of Northwell Health, Glen Oaks, NY, 11004, USA

    T. Lencz

  8. Department of Psychiatry, Massachusetts General Hospital, Boston, MA, 02114, USA

    G. Lázaro-Muñoz

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  1. D. Barlevy
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Correspondence to D. Barlevy.

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SC is a paid consultant at MyHeritage. All other co-authors have no conflicts of interest to disclose.

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Barlevy, D., Cenolli, I., Campbell, T. et al. Patient interest in and clinician reservations on polygenic embryo screening: a qualitative study of stakeholder perspectives. J Assist Reprod Genet 41, 1221–1231 (2024). https://doi.org/10.1007/s10815-024-03074-0

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