Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.

As large-scale genomic screening becomes increasingly prevalent, understanding the influence of actionable results on healthcare utilization is key to estimating the potential long-term clinical impact. The eMERGE network sequenced individuals for actionable genes in multiple genetic conditions and returned results to individuals, providers, and the electronic health record. Differences in recommended health services (laboratory, imaging, and procedural testing) delivered within 12 months of return were compared among individuals with pathogenic or likely pathogenic (P/LP) findings to matched individuals with negative findings before and after return of results. Of 16,218 adults, 477 unselected individuals were found to have a monogenic risk for arrhythmia (n = 95), breast cancer (n = 96), cardiomyopathy (n = 95), colorectal cancer (n = 105), or familial hypercholesterolemia (n = 86). Individuals with P/LP results more frequently received services after return (43.8%) compared to before return (25.6%) of results and compared to individuals with negative findings (24.9%; p < 0.0001). The annual cost of qualifying healthcare services increased from an average of $162 before return to $343 after return of results among the P/LP group (p < 0.0001); differences in the negative group were non-significant. The mean difference-in-differences was $149 (p < 0.0001), which describes the increased cost within the P/LP group corrected for cost changes in the negative group. When stratified by individual conditions, significant cost differences were observed for arrhythmia, breast cancer, and cardiomyopathy. In conclusion, less than half of individuals received billed health services after monogenic return, which modestly increased healthcare costs for payors in the year following return.

Impact of notification policy on patient-before-clinician review of immediately released test results.

The 21st Century Cures Act mandates immediate availability of test results upon request. The Cures Act does not require that patients be informed of results, but many organizations send notifications when results become available. Our medical center implemented 2 sequential policies: immediate notifications for all results, and notifications only to patients who opt in. We used over 2 years of data from Vanderbilt University Medical Center to measure the effect of these policies on rates of patient-before-clinician result review and patient-initiated messaging using interrupted time series analysis. When releasing test results with immediate notification, the proportion of patient-before-clinician review increased 4-fold and the proportion of patients who sent messages rose 3%. After transition to opt-in notifications, patient-before-clinician review decreased 2.4% and patient-initiated messaging decreased 0.4%. Replacing automated notifications with an opt-in policy provides patients flexibility to indicate their preferences but may not substantially alleviate clinicians' messaging workload.

Evaluating Costs Associated With Genetic Counseling Among Commercially Insured US Patients With Cancer From 2013 to 2019.

This cohort study describes the prevalence of out-of-pocket costs for cancer-related genetic counseling services in the US.