Laboratory and clinical genetic Counselor's perspectives on the reporting of personal health risks on carrier screening reports

Abstract

Carrier screening estimates the risk for an individual to be a carrier of an autosomal recessive or X-linked genetic condition. Incidentally, carrier screening may reveal personal health risks (PHR). Carrier results with PHR are “heterozygous variants which carry health risks similar to or unrelated to the disease caused by variants in a compound heterozygous, homozygous, or hemizygous configuration” (Sagaser et al., 2023, Journal of Genetic Counseling, 32, 540). Despite previous research identifying the carrier screening laboratory report as the most frequently utilized resource when providing post-test counseling for PHR, genetic counselors' preferences and expectations regarding PHR reporting have not been investigated. We developed a 20-item survey using five-point Likert scales and free-response questions related to the format and content of a laboratory report when PHR is identified. Participants were recruited through the NSGC Student Research Survey Listserv and included 48 clinical and eight laboratory genetic counselors. Most participants had neutral (39%) or low satisfaction (48%) with the current reporting of PHR. Participant-free responses highlighted a lack of consistency in how PHR is reported. Most participants (79%) agreed that reports should include clear management recommendations regarding PHR follow-up for providers, such as suggestions for specialty referrals or professional guidelines relevant to risks associated with the specific gene. There was a wide variation in responses regarding whether patients should be able to opt-out of PHR information on carrier screening panels. Free responses collected suggest the need for further investigation and clarification regarding an opt-out policy concerning logistics and consent. PHR for carriers is a nuanced topic, and reporting these risks requires careful consideration. The results of this study provide guidance as to how genetic counselors desire to see PHR reported on carrier reports.