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


VOLUME 2, ISSUE 2, P215-223, JUNE 01, 2021


Sarah Capelouto, M.D., Melanie Evans, M.D., Jennifer Shannon, M.D., Katelyn Jetelina, Ph.D., M.P.H., Orhan Bukulmez, M.D., Bruce Carr, M.D.



To assess whether primary care specialists’ demographics, specialty, and knowledge of preimplantation genetic testing for monogenic disorders (PGT-M) influence their practice patterns.


Cross-sectional survey study.


Academic medical center.


Not applicable.



Main Outcome Measure(s)

Objective PGT-M knowledge, subjective comfort with PGT-related topics, PGT care practices (discussions/referrals), and PGT-M implementation barriers.


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.


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.

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