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

D. Barlevy, I. Cenolli, T. Campbell, R. Furrer, M. Mukherjee, K. Kostick-Quenet, S. Carmi, T. Lencz, G. Lázaro-Muñoz, S. Pereira

Research output: Contribution to journalArticlepeer-review


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.

Original languageAmerican English
JournalJournal of Assisted Reproduction and Genetics
StateAccepted/In press - 2024


  • Polygenic embryo screening
  • Preimplantation genetic testing
  • Qualitative research

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics
  • Obstetrics and Gynaecology
  • Reproductive Medicine
  • Developmental Biology


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