Julie O. Culver , MS , 1 , Charité N. Ricker , MS 1 , Joseph Bonner , PhD 2 , John Kidd , MS 3 , Duveen Sturgeon , MSN 2 , Rachel Hodan , MS 4 , Kerry Kingham , MS 4 , Katrina Lowstuter , MS 1 , Nicolette M. Chun , MS 4 , Alexandra P. Lebensohn , MS 4 , Courtney Rowe‐Teeter , MS 4 , Peter Levonian , MS 4 , Katlyn Partynski , MS 1 , Karlena Lara‐Otero , PhD, MS 4 , Christine Hong , MS 2 , Jennifer Morales Pichardo , MS 2 , Meredith A. Mills , BA 4 , Krystal Brown , PhD 3 , Caryn Lerman , PhD 1 , Uri Ladabaum , MD 4 , Kevin J. McDonnell , MD, PhD 2 , James M. Ford , MD 4 , Stephen B. Gruber , MD, PhD, MPH 2 , Allison W. Kurian , MD, MSc 4 , Gregory E. Idos , MD, MS , 2
15 December 2020
Little is known about the psychological outcomes of germline multigene panel testing, particularly among diverse patients and those with moderate‐risk pathogenic variants (PVs).
Study 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).
The 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.
In 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.
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.
Multigene panel tests for hereditary cancer have become widespread despite concerns that carriers of moderate‐risk pathogenic variants or uncertain variants could have adverse psychological reactions. This large cohort study of patients undergoing panel testing has found that the psychological response is favorable, regardless of genetic test results.