Purpose:We developed, implemented, and evaluated a multicomponent cancer genetics toolkit designed to improve recognition and appropriate referral of individuals at risk for hereditary cancer syndromes. Methods:We evaluated toolkit implementation in the women's clinics at a large Veterans Administration medical center using mixed methods, including pre-post semistructured interviews, clinician surveys, and chart reviews, and during implementation, monthly tracking of genetic consultation requests and use of a reminder in the electronic health record. We randomly sampled 10% of progress notes 6 months before (n = 139) and 18 months during implementation (n = 677). Results:The toolkit increased cancer family history documentation by almost 10% (26.6% pre-and 36.3% postimplementation). The reminder was a key component of the toolkit; when used, it was associated with a twofold increase in cancer family history documentation (odds ratio = 2.09; 95% confidence interval: 1.39-3.15), and the history was more complete. Patients whose clinicians completed the reminder were twice as likely to be referred for genetic consultation (4.1-9.6%, P < 0.0001). Conclusion:A multicomponent approach to the systematic collection and use of family history by primary-care clinicians increased access to genetic services.

EHR point-of-care tools improved documentation of genetic testing processes and decreased utilization of genetic tests commonly ordered by nongeneticists.Genet Med 19 1, 112-120.

Although cfDNA is superior in detecting T21 cases, sequential screening is superior when considering all aneuploidies detectable. The cost increase with universal cfDNA is significant, and is not justified with small improvements in the performance.

INTRODUCTION: The rapid expansion of genetic testing has resulted in increased costs and utilization. Previous studies have shown a financial benefit to review of genetic testing by genetic counselors. We sought to determine the costs of genetic testing and compliance with published guidelines and clinical best practices at our institution. METHODS: This is an approved quality improvement project. We identified the charts associated with the genetic test billing codes for common genetic tests sent through LabCorp (cystic fibrosis, BRCA, factor V Leiden, prothrombin, alpha-thalassemia, hemochromatosis, and cell free DNA). We reviewed charts retrospectively to assess the compliance with published clinical practice guidelines identified on Gene Reviews. Tests were classified as: appropriate, mis-ordered/not indicated, mis-ordered/false reassurance, and mis-ordered/inadequate. Cost analysis was performed for recommended test changes. RESULTS: We reviewed 114 charts over the 3 month period. Forty four (38.6%) of the tests were mis-ordered based on published clinical practice guidelines: 24 (21%) were mis-ordered/not indicated, 8 (7%) were mis-ordered/false reassurance, and 12 (10.5%) were mis-ordered/inadequate. Costs of ordered testing ($75,177.41) were compared to recommended testing after review ($54,264.83), with a total cost savings of $20,912.58. CONCLUSION: In clinical practice, over 1/3 of genetic tests reviewed were mis-ordered As these tests are a small fraction of all genetic tests at our institution, future studies should broaden the scope of testing evaluated to understand the magnitude of this problem and potential cost savings. Genetic counselor review and/or involvement in genetic test ordering can decrease inappropriate healthcare expenditures and improve patient care.