Specialist physicians’ referral behavior on pre-implantation genetic testing for single-gene disorders: is there room to grow?

Abstract: Objective To assess whether primary care specialists’ demographics, specialty, and knowledge of pre-implantation genetic testing for monogenic disorders (PGT-M) influenced their practice patterns. Design Cross-sectional survey study. Setting Academic medical center. Patients N/A. Interventions None. Main Outcome Measure(s) Objective PGT-M knowledge, subjective comfort with PGT-related topics, PGT care practices (discussions/referrals), PGT-M implementation barriers. Results Our survey had 145 respondents: 65 Ob/Gyns, 36 internists, and 44 pediatricians. Overall, 88% believed that patients at risk of passing on genetic disorders should be provided PGT-M information. However, few discussed PGT-M with their patients (24%) or referred for testing (23%). Over half (63%) believed lack of physician knowledge was a barrier to PGT utilization. In terms of subjective comfort with PGT, only 1 in 5 felt familiar enough with the topic to answer patient questions. There were higher odds of discussing (OR 3.21, 95% CI 1.75-5.87) or referring for PGT (OR 2.52, 95% CI 1.41-4.51) for each additional 0.5 correct answers to PGT knowledge questions. Odds of referring for PGT-M were highest among Ob/Gyns compared to internists and pediatricians. Conclusion Physician specialty and PGT knowledge were associated with PGT-M care delivery practices. While most specialists believed in equipping at-risk patients with PGT-M information, less than 1 in 4 discussed or referred patients for PGT. Low levels of PGT-related care among providers might be owed to inadequate knowledge of and comfort with the topic. Opportunity exists to promote greater understanding of PGT-M among primary care specialists, in turn improving utilization of referrals to PGT-M services.