Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial

Abstract

In-person education and counseling for all people receiving genetic results is the predominant model of disclosure but is challenged by the growing volume of low-impact results generated by sequencing. Evidence suggests that web-based tools may be as effective as in-person counseling at educating individuals about their low-impact results. However, the effects of counseling have not been assessed. To evaluate its utility, carrier results were returned to 459 post-reproductive participants from the ClinSeq cohort within a randomized controlled trial. Participants received education and were randomized to receive counseling or not. Primary outcomes included risk worry, test-related positive experiences, attitudes, and decisional conflict. Secondary outcomes were satisfaction, preferences, and counseling value. There were no differences between participants who received counseling and those who did not in the primary outcomes. Participants who received counseling were more satisfied than those who did not (x¯ = 10.2 and 9.5, respectively, p < 0.002, range: 3-12), although overall satisfaction was high. Most participants (92%) randomized to counseling preferred it and valued it because it provided validation of their reactions and an opportunity for interpersonal interaction. Web-based tools address the challenge of returning low-impact results, and these data provide empiric evidence that counseling, although preferred and satisfying, is not critical to achieving desired outcomes.

Adaptation of the working alliance inventory for the assessment of the therapeutic alliance in genetic counseling

“…Data from this study were derived from a previously conducted randomized clinical trial of the delivery of carrier results from exome sequencing within the ClinSeq ® cohort (Biesecker et al., 2018; Lewis et al., 2018). The eligibility criteria for this parent study were described in detail in the published reports.…”

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

“…Many CSER translational research projects disclosed carrier results as a secondary result. Several projects have published outcomes that include carrier testing (Biesecker et al., ; Cirino et al., ; Lewis et al., ; Parsons et al., ; Vassy et al., ; Wynn et al., ). The Consortium's Actionability/Return of Results Working Group sought to understand the variability in CSER approaches to identifying and disclosing carrier results, including (1) selection of genes and variants; (2) choices given to research participants regarding which results to disclose; (3) results communication approaches; and (4) project outcomes, including the proportion of individuals with carrier results and which genetic variants are commonly identified.…”

Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol

“…Thus we will check the PSQ-18 as one of the secondary endpoints to objectively assess patients’ understanding and satisfaction for the daily medical practice, disclosure of genetic risk, treatment decisions and medical costs. Lewis et al reported that genetic counselling after standard education might improve the satisfaction of individuals who have received their carrier results 19. Our study might provide interesting perspectives of returning genetic results with the disclosure of future CHD risk for patients with FH, who have reliable and evidence-based treatment options to prevent the risk.…”