Specialist physicians’ referral behavior regarding preimplantation genetic testing for single-gene disorders: Is there room to grow?

Sarah Capelouto, Melanie Evans, Jennifer Shannon, Katelyn Jetelina, Orhan Bukulmez, Bruce Carr

Research output: Contribution to journalArticlepeer-review


Objective: To assess whether primary care specialists’ demographics, specialty, and knowledge of preimplantation genetic testing for monogenic disorders (PGT-M) influence their practice patterns. Design: Cross-sectional survey study. Setting: Academic medical center. Patient(s): Not applicable. Intervention(s): None. Main Outcome Measure(s): Objective PGT-M knowledge, subjective comfort with PGT-related topics, PGT care practices (discussions/referrals), and PGT-M implementation barriers. Result(s): Our survey had 145 respondents: 65 obstetrician/gynecologists, 36 internists, and 44 pediatricians. Overall, 88% believed that patients at a risk of passing on genetic disorders should be provided PGT-M information. However, few discussed PGT-M with their patients (24%) or referred them for testing (23%). Over half (63%) believed that the lack of physician knowledge was a barrier to PGT use. In terms of subjective comfort with PGT, only 1 in 5 physicians felt familiar enough with the topic to answer patient questions. There were higher odds of discussing (odds ratio, 3.21; 95% confidence interval, 1.75–5.87) or referring for PGT (odds ratio, 2.52; 95% confidence interval, 1.41–4.51) for each additional 0.5 correct answers to PGT knowledge-related questions. The odds of referring patients for PGT-M were the highest among obstetrician/gynecologists compared with those among the internists and pediatricians. Conclusion(s): Physician specialty and PGT knowledge were associated with PGT-M care delivery practices. Although most specialists believed in equipping at-risk patients with PGT-M information, <1 in 4 discussed or referred patients for PGT. The low levels of PGT-related care among providers may be owed to inadequate knowledge of and comfort with the topic. An opportunity to promote greater understanding of PGT-M among primary care specialists exists and can in turn improve the use of referrals to PGT-M services.

Original languageEnglish (US)
Pages (from-to)215-223
Number of pages9
JournalF and S Reports
Issue number2
StatePublished - Jun 2021


  • Preimplantation genetic testing
  • monogenic disease
  • obstetrician/gynecologist
  • primary care specialist
  • survey

ASJC Scopus subject areas

  • Embryology
  • Obstetrics and Gynecology
  • Reproductive Medicine


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