Scalable new model of genomic care delivery: Assessing psychological outcomes.
Authors: Gray Stacy W. , Solomon Ilana , Labib Sarah , Luong Marilan , Garcia Michael , Xiao Yi , Bonner Joseph D. , Shaktah Lawrence , Currey Madeline , Fujii Christina , Hampel Heather , Hong Christine , Idos Gregory , McDonnell Kevin , Lindsey Sidney S. , Park Wai , Reyes Kathryn , Tang Sarah , Hamilton Stanley R. , Gruber Stephen B. 
Published: June 2023

10600

Background: Germline testing (GT) use is on the rise given testing implications for identifying cancer susceptibility and therapeutically actionable alterations. Scalable models of care that emphasize post-test, as opposed to pre-test, genetic counseling are needed to meet demand. However, little is known about the psychological impact (PI) of test result disclosure in such models. Methods: The enterprise-wide City of Hope INSPIRE study offers all consented patients GT for cancer susceptibility (155 genes) and actionable disorders (59 genes). In 2022, we surveyed a sub-set of English-speaking participants ~1 month following test result disclosure. We evaluated PI using the Feelings about Genomic Testing Results (FACToR) measure (distress/ uncertainty subscales 0-12; positive subscale 0-16) and explored associations between patient characteristics, GT results and PI. Results: Of 1000 patients surveyed, 615 completed at least one of the FACToR questions. Participants were mostly white (n=463, 75%) or Asian (n=12.52, 13%) and female (n=419, 68%) with a mean age of 62 yrs. 357 (61%) had a cancer diagnosis and most opted for both GT panels (97%). Eighteen percent had a pathogenic/likely pathogenic variant (PV/LPV) in an autosomal dominant condition, 8% were carriers for an autosomal recessive condition, 53% had at least one variant of unknown significance (VUS) and 21% had negative results. Most patients (n=583, 95%) had low levels of distress with a mean score of 1.67 (SD 2.31). Out of the 30 (5%) patients with higher levels of distress (score >7), results were similar for patients with and without cancer (5% and 4% respectively). Of the 30 patients with higher distress, 67% had a P/LPV variant (13 with and 7 without cancer). Patients also had low levels of uncertainty with a mean score of 2.22 (SD 2.61) and 93% (n=569) scored <7. For those who scored higher on uncertainty (n=44, 7%), most people had cancer and a VUS (n=16, 36%), followed by cancer and LPV/PV (n=10, 23%) followed by patient without cancer with a VUS (n=6, 14%). Finally, 56% (n=44) had high positivity scores (9-16); mean 9.18 (SD 4.31). Fifty-six percent of patients felt a “good/great deal” happy about their GT and 54% were a good/great deal relieved about their results. Conclusions: After implementing an enterprise-wide germline testing program with an emphasis on robust post-test genetic counseling, we found very little evidence of post-disclosure distress or uncertainty. Similar to prior studies, we found that a small proportion of patients may be more vulnerable to negative PI. More work is needed to prospectively identify at risk patients to provide support to this population as we continue to develop safe, effective, and scalable models of care.