Divergence Between Clinician and Patient Perspectives on Polygenic Embryo Screening: A Qualitative Study
Authors: Barlevy Dorit , Cenolli Ilona , Campbell Tiffany , Furrer Remy , Mukherjee Meghna , Kostick-Quenet Kristin , Carmi Shai , Lencz Todd , Lazaro-Munoz Gabriel , Pereira Stacey 
Published: October 2023

Structured Abstract

Objective

To explore and compare the perspectives of clinicians and patients on polygenic embryo screening.

Design

Qualitative.

Subjects

Fifty-three participants: 27 reproductive endocrinology and infertility specialists and 26 patients currently undergoing in vitro fertilization or had done so within the last five years.

Main Outcome Measures

Qualitative thematic analysis of interview transcripts.

Results

Both 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 often than patients, who generally held more positive views. Most clinicians were either unwilling to discuss or offer polygenic embryo screening to patients or were willing to do so only under certain circumstances, while many patients expressed interest in polygenic embryo screening. Both sets of stakeholders envisioned multiple potential benefits or uses of polygenic embryo screening; the most common included selection and/or prioritization of embryos, receipt of more information about embryos, and preparation for the birth of a predisposed or “affected” child. Both sets of stakeholders also raised multiple potential, interrelated concerns about polygenic embryo screening. The most common concerns among both sets of stakeholders included the potential for different types of “biases” – most often in relation to selection of embryos with preferred genetic chances of traits –, the probabilistic nature of polygenic embryo screening that can complicate patient counseling and/or lead to excessive cycles of in vitro fertilization, and a lack of data from long-term prospective studies supporting the clinical use of polygenic embryo screening.

Conclusion

Despite patients’ interest in polygenic embryo screening, clinicians feel such screening is premature for clinical application. Though now embryos can be screened for their genetic chances of developing polygenic conditions and traits, many clinicians and patients maintain different attitudes depending on what is specifically screened, despite the blurry distinction between conditions and traits. Considerations raised by these stakeholders may help guide professional societies as they consider developing guidelines to navigate the uncertain terrain of polygenic embryo screening, which is already commercially available.

Funding Statement

This study was supported by the National Institutes of Health’s Human Genome Research Institute [R01HG011711].

Disclosure Statement

SC is a paid consultant at MyHeritage.

Attestation Statement

Data regarding any of the subjects in the study has not been previously published unless specified.

Data will be made available to the editors of the journal for review or query upon request.

Data Sharing Statement

Appendices 1 and 2 will be available as supplemental materials upon publication. De-identified coded transcript excerpts will be made available upon reasonable request to the corresponding author.

Capsule

Clinician and patient perspectives on polygenic embryo screening both diverge and overlap, inviting greater reflection on concepts of condition severity and health for the development of professional guidelines.