JAMA Netw Open. 2026 Apr 1;9(4):e269816. doi: 10.1001/jamanetworkopen.2026.9816.
ABSTRACT
IMPORTANCE: Approximately 10% of cancers are attributable to heritable germline variants, yet identification of individuals at risk remains suboptimal.
OBJECTIVE: To assess the feasibility of personal history and family health history (FHH) risk assessment technology via the electronic medical record (EMR) to enhance identification of patients at risk for a broad array of inherited cancer syndromes.
DESIGN, SETTING, AND PARTICIPANTS: This single-arm, nonrandomized clinical trial was completed from October 1, 2021, to September 1, 2023, with no follow-up period in unselected patients receiving care at Vanderbilt University Medical Center. Adult patients (aged ≥18 years) were invited through their EMR patient portals to complete an eligibility survey. Eligible participants completed the survey, were English speaking, and had no prior genetic counseling. The data analysis was performed between August 15 and November 7, 2025.
INTERVENTION: Electronic medical record-integrated risk assessment platform that collected self-reported personal history and FHH to assess risk for 24 hereditary cancer syndromes.
MAIN OUTCOMES AND MEASURES: The primary outcome was the completion rate of the risk assessment platform. Secondary outcomes included the percentage of newly identified participants meeting guideline criteria for genetic counseling and whether previsit FHH collection increased genetic counseling capacity by decreasing time spent in counseling.
RESULTS: A total of 1685 patients were consented to participate (mean [SD] age, 55.4 [15.1] years; 1217 female [72.2%]; 95 of Black or African American [5.6%] 1405 of White [83.4%], and 181 of other [multiracial, other, or unknown] [10.6%] race; 38 of Hispanic or Latino [2.3%], 1388 of non-Hispanic or Latino [82.4%], and 111 of unknown [6.6%] ethnicity). Among participants consented, 1483 (88.0%) were provided access to the risk assessment, 1106 (74.6%) started the assessment, 636 (57.5%) completed it, and 544 (49.1%) received a risk report. Younger age and unknown race and ethnicity were the only significant variables associated with completion (mean [SD] age, 53.5 [15.3] vs 56.9 [14.8] years for completers vs noncompleters, respectively; unknown race, 77 [14.2%] vs 43 [7.6%] for noncompleters; unknown ethnicity, 49 [9.0%] vs 20 [3.6%] for completers vs noncompleters, respectively). Among participants who completed the risk assessment, 155 (28.5%) met guideline criteria for genetic counseling, yet 74 (47.7%) were previously identified as at risk by billing codes. A total of 31 participants (20.0%) eligible for genetic counseling attended. Manual outreach efforts and counseling duration did not differ between risk assessment-assisted and usual care visits.
CONCLUSIONS AND RELEVANCE: In this nonrandomized clinical trial, almost one-third of the population met national genetic counseling criteria for an inherited cancer syndrome, highlighting a substantial gap in usual care identification. Integrating patient-facing FHH collection and assessment tools for primary care patients improves inherited cancer risk identification and highlights opportunities to further enhance both risk assessment processes and genetic counseling attendance.
TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT05079334.
PMID:42054024 | DOI:10.1001/jamanetworkopen.2026.9816
