Divergence Between Clinician and Patient Perspectives on Polygenic Embryo Screening: A Qualitative Study

Abstract

Structured AbstractObjectiveTo explore and compare the perspectives of clinicians and patients on polygenic embryo screening.DesignQualitative.SubjectsFifty-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 MeasuresQualitative thematic analysis of interview transcripts.ResultsBoth 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.ConclusionDespite 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 StatementThis study was supported by the National Institutes of Health’s Human Genome Research Institute [R01HG011711].Disclosure StatementSC is a paid consultant at MyHeritage.Attestation StatementData 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 StatementAppendices 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.CapsuleClinician 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.

Polygenic Embryo Screening: High Approval Despite Substantial Concerns from the U.S. Public

“…These findings highlight the urgent need for further research to comprehensively inform the public, IVF patients, REIs, and genetic counselors on the potential benefits, limitations, and concerns that surround the use of PES. Given the divide in approval between the public and IVF patients on the one hand and healthcare professionals on the other 22,25,[34][35][36]38 we recommend that stakeholder groups, particularly policymakers, working groups from professional societies, and clinicians, consider the basis of this divide. Finally, approval was significantly different between using PES for health conditions versus traits.…”

“…The design of items assessing PES’ potential uses and information types along with potential concerns was informed by qualitative data that was collected from 53 interviews with US-based REIs and IVF patients 36 . Survey participants first received an animated introduction to PES, which briefly explained: IVF, monogenic testing, polygenic testing, as well as multiple different embryo reports that explained and contrasted percentile, average, and absolute risk/chance estimates for several conditions between two embryos.…”

“…Given the recent emergence of this technology, only two short surveys have published results, and these have been limited to gauging U.S. public approval and interest in PES for specific outcomes 34,35 . In the present survey, we examined 24 conditions and traits - informed by qualitative interviews with US-based REIs and IVF patients 36 . We gauged both approval and interest in varied potential applications of PES.…”