Use of digital health tools with point-of-care testing improves access to germline genetic testing within a...

Many patients who qualify for cancer germline genetic testing do not get offered such testing. Digital health tools (DHTs) and point-of-care (POC) genetic testing have both shown promise to increase access to cancer genetic testing in certain settings. However, there is scant evidence on the impact of either DHTs or POC in gastrointestinal (GI) cancer clinics or on the combined use of DHTs and POC testing. We aimed to determine whether POC genetic testing with DHTs improves (1) the identification of patients for genetic testing and (2) the uptake of genetic testing within a multidisciplinary GI cancer clinic. A retrospective before-and-after study design was used. Data was collected by chart review. Outcomes were the proportion of patients (1) identified for genetic evaluation and (2) consented to genetic testing. In the before group (n = 24), patients were identified for genetic evaluation by physicians and referred to a genetic counseling clinic for testing. In the after group (n = 32), patients had access to POC genetic testing with support from DHTs. The study cohort (n = 56) was 51.8% female with a mean age of 61.1 years (SD = 12.2) and predominantly White (58.8%) or African American (39.2%). In the before group, 6/24 (25%) patients were identified for genetic evaluation compared to 17/32 (53%) in the after group (p = 0.03). Genetic testing uptake was 0% (0/24) in the before group and 25% (8/32) in the after group (p = 0.02). The use of DHTs and a POC genetic testing model improved the identification of patients for genetic testing. While uptake improved, it remained low, suggesting additional approaches are needed.