Psychosocial outcomes following germline multigene panel testing in an ethnically and economically diverse cohort of patients
Authors: Culver Julie O. , Ricker Charité N. , Bonner Joseph , Kidd John , Sturgeon Duveen , Hodan Rachel , Kingham Kerry , Lowstuter Katrina , Chun Nicolette M. , Lebensohn Alexandra P. , Rowe‐Teeter Courtney , Levonian Peter , Partynski Katlyn , Lara‐Otero Karlena , Hong Christine , Morales Pichardo Jennifer , Mills Meredith A. , Brown Krystal , Lerman Caryn , Ladabaum Uri , McDonnell Kevin J. , Ford James M. , Gruber Stephen B. , Kurian Allison W. , Idos Gregory E. 
Published: December 2020

BackgroundLittle is known about the psychological outcomes of germline multigene panel testing, particularly among diverse patients and those with moderate‐risk pathogenic variants (PVs).MethodsStudy participants (N = 1264) were counseled and tested with a 25‐ or 28‐gene panel and completed a 3‐month postresult survey including the Multidimensional Impact of Cancer Risk Assessment (MICRA).ResultsThe mean age was 52 years, 80% were female, and 70% had cancer; 45% were non‐Hispanic White, 37% were Hispanic, 10% were Asian, 3% were Black, and 5% had another race/ethnicity. Approximately 28% had a high school education or less, and 23% were non–English‐speaking. The genetic test results were as follows: 7% had a high‐risk PV, 6% had a moderate‐risk PV, 35% had a variant of uncertain significance (VUS), and 52% were negative. Most participants (92%) had a total MICRA score ≤ 38, which corresponded to a mean response of “never,” “rarely,” or only “sometimes” reacting negatively to results. A multivariate analysis found that mean total MICRA scores were significantly higher (more uncertainty/distress) among high‐ and moderate‐risk PV carriers (29.7 and 24.8, respectively) than those with a VUS or negative results (17.4 and 16.1, respectively). Having cancer or less education was associated with a significantly higher total MICRA score; race/ethnicity was not associated with the total MICRA score. High‐ and moderate‐risk PV carriers did not differ significantly from one another in the total MICRA score, uncertainty, distress, or positive experiences.ConclusionsIn a diverse population undergoing genetic counseling and multigene panel testing for hereditary cancer risk, the psychological response corresponded to test results and showed low distress and uncertainty. Further studies are needed to assess patient understanding and subsequent cancer screening among patients from diverse backgrounds.Lay Summary

Multigene panel tests for hereditary cancer have become widespread despite concerns about adverse psychological reactions among carriers of moderate‐risk pathogenic variants (mutations) and among carriers of variants of uncertain significance.

This large study of an ethnically and economically diverse cohort of patients undergoing panel testing found that 92% “never,” “rarely,” or only “sometimes” reacted negatively to results.

Somewhat higher uncertainty and distress were identified among carriers of high‐ and moderate‐risk pathogenic variants, and lower levels were identified among those with a variant of uncertain significance or a negative result.

Although the psychological response corresponded to risk, reactions to testing were favorable, regardless of results.