NEW YORK – With the help of sequencing, clinical, and health services data from the "Electronic medical records and genomics" (eMERGE) network, a team led by researchers at Vanderbilt University Medical Center saw relatively modest healthcare utilization for individuals with pathogenic or likely pathogenic (P/LP) variants in genes implicated in cancer, heart disease, or other conditions.
"As genomic screening of unselected populations becomes more common through large-scale research studies such as the All of Us Research Program and direct-to-consumer testing, understanding the impact of return of actionable results is critical for determining success of these initiatives," senior author Josh Peterson, a researcher and internist at Vanderbilt University Medical Center, and his colleagues wrote in the American Journal of Human Genetics on Wednesday.
To explore healthcare utilization after positive tests, the team looked at utilization patterns over 12 months after return of results to individuals and their healthcare providers through the eMERGE network, focusing on almost 500 individuals with L/LP variants found by germline sequencing of 49 actionable genes linked to five conditions: arrythmia, cardiomyopathy, familial hypercholesterolemia, breast cancer, and colorectal cancer.
With data for 16,218 adult eMERGE III participants from 10 health systems, the team identified 105 individuals with monogenic risk of colorectal cancer and 96 with P/LP variants in breast cancer-related genes. Another 86 carried P/LP variants in familial hypercholesterolemia genes, while monogenic risk for arrhythmia and cardiomyopathy was detected in 95 individuals per condition.
Based on current procedural terminology (CPT) codes in electronic health record data, the investigators found that 209 individuals or nearly 44 percent of those in the P/LP results group received at least one of the laboratory, imaging, and procedural testing services tracked for the study, compared to 119 (24.9 percent) of those who were negative for P/LP variants in the actionable genes profiled.
Likewise, just over one quarter of individuals in the P/LP group received similar services prior to the return of genetic testing results, the researchers reported, suggesting that the genetic results did prompt a slight rise in healthcare utilization.
"Within a large, sequenced cohort, less than half of adults (43.8 percent) with a monogenic risk result received a qualifying health service at an eMERGE site as determined by CPT codes within a year of return, which led to a modest increase in average healthcare costs," the researchers reported.
When it came to cost, the team calculated that P/LP costs came in at an average of around $343 per year for the P/LP group and an average of just over $162 annually in the group receiving P/LP variant-free results for the genes profiled.
"[A]s expected, costs were highly skewed so that a small number of individuals received higher cost care," the authors reported, noting that "there may be additional out-of-pocket costs to individuals that are not captured" since the current study centered on documented expenses between health insurance payors and providers.
The team's analyses suggested that monogenic risk related to four conditions prompted more healthcare utilization than risk related to one condition — familial hypercholesterolemia.
"Changes in healthcare services were largely attributable to completing recommended follow-up testing of arrhythmia risks (electrocardiograms), hereditary breast cancer risks (mammograms and breast magnetic resonance imaging), cardiomyopathy (echocardiograms and cardiac magnetic resonance imaging), and colorectal cancer (colonoscopy)," the authors reported, "whereas lipid testing rates for familial hypercholesterolemia were similar to the control populations."
The investigators noted that the current analysis complements other genomic screening-related studies of cost-effectiveness and healthcare utilization, including a recent Annals of Internal Medicine study from members of the same team that focused on the cost-effectiveness of Lynch syndrome, hereditary breast and ovarian cancer syndrome, and familial hypercholesterolemia genomic screening.
"Further work should examine downstream costs of additional screening, the impact of genomic risks on longer-term screening behavior, and overall cost effectiveness of genomic screening, as was recently reported for tier 1 conditions," the authors suggested, adding that the new work "informs other national and international efforts to collect outcomes and informs the potential cost of screening immediately following return."