Health information technology to improve referral to genetic testing for high-risk patients in a gynecologic oncology clinic (102)

Abstract

<b>Objectives:</b> Our previously presented pilot study evaluated a web-based tool to collect family cancer history (FCH). It demonstrated that this tool resulted in significantly higher quality FCH compared to standard of care face-to-face physician interviews. However, the true value of FCH requires translation into the utilization of genetic services. Here, we aimed to evaluate referral rates and completion of genetic services for patients completing the web-based tool versus standard of care. <b>Methods:</b> Patients scheduled for a gynecologic oncology new patient visit between September 2019 and September 2021 were eligible for enrollment in this institutional review board-approved prospective trial. The trial had three arms: <i>1)</i> Standard of care (FCH collection by physicians) <i>2)</i> Web-based tool administered by email prior to the visit, <i>3)</i> Web-based tool administered in the office prior to the visit (this arm closed early due to COVID-19 restrictions). Individuals were identified as high-risk for familial cancer if they met National Comprehensive Cancer Network (NCCN) guidelines in the standard of care arm, or if the validated cancer risk models embedded in the web-based tool returned a lifetime cancer risk >20% or mutation risk >2.5% in the web-based tool arms. Validated risk assessment models included breast and ovarian BRCAPRO, Claus, Tyrer-Cuzick, Gail, colorectal and endometrial MMRPRO, MELAPRO, PANCPRO, and PREMM. The primary endpoint was the percentage of high-risk patients referred for genetic counseling/testing. Secondary endpoints included the completion of genetic counseling and genetic testing. <b>Results:</b> Two hundred and fifty patients were enrolled (Arm 1: 110; Arm 2: 105; Arm 3: 35). Among patients randomized to the web-based tool, 88 (63%) completed the tool. In the control arm, 31 patients (28%) met the criteria for referral to genetics, among which 18 (58%) had previously completed genetic testing. In the web-based tool arm, 26 patients (30%) met the criteria, among which 12 (46%) had previously completed genetic testing, and one was deceased soon after her visit. In the control arm, 54% of high-risk patients were referred to genetic counseling, 23% completed genetic counseling, and 23% completed genetic testing. In the web-based tool arm, 100% of high-risk patients were referred to genetic counseling, 54% completed genetic counseling, and 38% completed genetic testing (Table 1). <b>Conclusions:</b> When successfully completed, the use of a web-based tool for FCH collection facilitated the process of referral to genetics, resulting in significantly higher referral rates to genetic counseling than the standard of care physician interviews (100% vs 54%, p=0.01). However, 37% of patients could not complete the web-based tool. Our findings demonstrate the potential power of health information technology to identify millions of individuals unknowingly carrying familial cancer syndromes and highlight those tools must be designed in a way to maximize patient participation.Fig. 1