The goal of this study was to evaluate the impact of genetic counselor (GC) review of incoming test orders received in an academic diagnostic molecular genetics laboratory. The GC team measured the proportion of orders that could be modified to improve efficiency or sensitivity, tracked provider uptake of GC proposed testing changes, and calculated the health care dollar savings resulting from GC intervention. During this 6-month study, the GC team reviewed 2367 incoming test orders. Of these, 109 orders (4.6%) were flagged for review for potentially inefficient or inappropriate test ordering. These flagged orders corresponded to a total of 51 cases (1-5 orders for each patient), representing 54 individuals and including 3 sibling pairs. The GC team proposed a modification for each flagged case and the ordering providers approved the proposed change for 49 of 51 cases (96.08%). For the 49 modifications, the cost savings totaled $98,750.64, for an average of $2015.32 saved per modification. This study provides evidence of the significant contribution of genetic counselors in a laboratory setting and demonstrates the benefit of laboratories working with ordering providers to identify the best test for their patients. The review of test orders by a genetic counselor both improves genetic test ordering strategies and decreases the amount of health care dollars spent on genetic testing.

Demonstrating validity of a tool for genetic counseling self-efficacy could help determine if this is a useful tool for training outcomes or other purposes in the field. The purpose of the current study was to describe the relationship between genetic counseling self-efficacy, measured by scores on the Genetic Counseling Self-Efficacy Scale (GCSES), personality characteristics, clinical characteristics, and performance on the American Board of Genetic Counselors (ABGC) board certification examination. Genetic counselors, recruited via email through the National Society of Genetic Counselors (NSGC) Student Research Survey Program, completed an online questionnaire that included the GCSES, work locus of control (WLOC) scale, trait subscale of the State-Trait Anxiety Inventory (STAI), and questions related to board examination performance. Higher genetic counseling self-efficacy factor scores for four of six factors were significantly associated with lower WLOC scores indicative of internal locus of control (p's < .05); higher genetic counseling self-efficacy factor scores for all six factors were significantly associated with lower trait anxiety scores (p's < .05). In addition, increased years of experience and providing direct patient care were found to be significantly related to higher scores for all six-factor scores on the GCSES (p's ≤ .05). Multiple linear regression models were performed to assess combined effects of predictor and demographic variables and demonstrated that professional factors were most significantly associated with GCSES factor scores. Findings from the current study provide additional validation for the GCSES and add clarity to the relationships between genetic counseling self-efficacy, personality characteristics, and professional factors. Validation of the GCSES supports the usefulness of this tool as an outcome for genetic counseling training purposes. In addition, the GCSES could be used for self-reflective practice for genetic counselors. Further studies are needed to investigate the relationship between genetic counseling self-efficacy and genetic counselor competency.

Background Developing an effective approach to the identification of individuals at increased cancer risk is key to preventing and/or providing early diagnosis of cancer. However, outside of targeted genetics clinics, under identification of individuals with hereditary cancer risk is well recognized, due in part to ever evolving complexity of germline genetic testing criteria and lack of systematic framework to perform robust risk assessment on all patients. In contrast, breast and imaging centers are ideally positioned to maximize the impact of positive genetic test results due to immediate availability of surveillance and diagnostic tools. Here we present data from breast and imaging centers using a patient-facing digital platform offered universally to all patients before their scheduled appointment designed to collect personal and family health information and assess cancer risk and genetic testing eligibility based on current guidelines. Methods We conducted a retrospective observational study of patients in breast and imaging centers who used a web-based risk stratification tool before standard ambulatory appointments to assess their lifetime risk for breast cancer based on the Tyrer-Cuzick (version 8.0) risk algorithm and eligibility for National Comprehensive Cancer Network (NCCN®) genetic testing criteria at the time of assessment. Testing criteria included hereditary breast, ovarian, pancreatic, and prostate cancers, Lynch syndrome, and familial adenomatous polyposis (FAP). Data was pulled for patients seen from June 2020 through May 2022 at participating breast and imaging centers throughout the United States. Outcome measures included percentage of individuals who completed the risk-assessment, met testing criteria, pursued germline genetic testing, received a positive germline result, and/or had a Tyrer-Cuzick breast cancer risk ≥20%. Results A total of 251,492 individuals completed assessments; 250,011 (99%) were females aged 18 years or older. Overall, at the time of assessment 80,814/251,492 (32.1%) met genetic testing criteria and 24.4% (19,694) of those meeting criteria opted to proceed with germline genetic testing. An additional 1,561 individuals who did not meet criteria pursued genetic testing. Of the 18,532 completed genetic tests, 1,507 (8.1%) had positive genetic test results. The majority of positive individuals (93%) met testing criteria. 40.7% (613/1,507) of positive results had an impact on breast cancer risk management options. In addition to individuals identified as high-risk through germline genetic testing evaluations, 13.1% (28,108/214,269) of individuals assessed using the Tyrer-Cuzick algorithm had ≥20% lifetime risk of breast cancer and met the threshold for modified medical management. Conclusion In this study, the web-based assessment tool provided a standardized workflow that enabled individuals interested in receiving cancer risk assessment and germline testing an opportunity to do so. When offered to all patients, this digital platform can offer a scalable opportunity for breast and imaging centers to identify individuals eligible for modified medical management for breast cancer risk and other inherited cancer syndromes, which may ultimately improve the prevention and early treatment of individuals with cancer predisposition. Citation Format: Heather Fecteau, Haley Keller, Carrie Horton, Carrie Milliard, Robert Pilarski, Lukas Lyon, Lily Hoang, Shannon Kieran. Expanding the reach of germline genetic testing: Use of web-based risk assessment to inform medical management amongst patients at breast and imaging centers [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr P6-02-13.

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