Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO.

Variants in hereditary cancer risk genes are frequently identified following tumor-based DNA sequencing and represent an opportunity to diagnose hereditary cancer. We implemented an automated hereditary cancer screening program in a large HMO for all patients who underwent tumor-based DNA sequencing to identify patients with hereditary cancer and determine if this approach augmented existing genetic counseling approaches driven by personal/family history criteria. Regular automated searches of a centralized tumor DNA variant database were performed for ATM, BRCA1, BRCA2, MLH1, MSH2, MSH6, PALB2, and/or PMS2 variants, and germline hereditary cancer gene panel testing was offered to patients with tumor variants who had never undergone germline testing. Patients completing germline testing due to their tumor DNA test results were considered part of the tumor DNA safety net. Patients previously completing germline testing via traditional genetic counseling and tumor DNA safety net were compared for demographics, tumor type, presence of germline pathogenic/likely pathogenic (P/LP) variant, and whether NCCN criteria were met for hereditary cancer genetic testing. Germline P/LP variants were common in both groups. Patients who received germline testing through traditional genetic counseling were more likely to have cardinal hereditary tumors than the tumor DNA safety net group. Patients identified with hereditary cancer through traditional genetic counseling were more likely to meet NCCN personal/family history criteria for germline testing than the tumor DNA safety net group (99% versus 34%). A universal tumor DNA safety net screen is an important diagnostic strategy which augments traditional genetic counseling approaches based on personal/family history.

Evaluation of an automated process for disclosure of negative noninvasive prenatal test results.

We designed and implemented a novel automated negative non-invasive prenatal test (NIPT) result disclosure process using a proprietary, HIPAA-compliant web-based portal. High-risk pregnant patients who opted for NIPT from 04/2017 to 12/2018 were given the option to receive their negative result through the automated process. Patients were required to watch a brief educational video and answer evaluative questions before downloading their result. After completing the process, patients completed a survey regarding their opinion of the efficiency and convenience of the process and their satisfaction. A total of 10,170 women registered online during the study period, and 8,965 completed the automated process (88%). Out of 8,965 women, 2,121 women responded to the survey (24%). Most (2,030 of 2,101) strongly agreed/agreed that they could easily navigate the patient portal (97%); 1,852 of 1,966 strongly agreed/agreed that disclosure was efficient and convenient (94%); 1,852 of 1,960 strongly agreed/agreed that they felt informed after watching a short educational video (94%); and 1,903 of 1,967 strongly agreed/agreed that they preferred downloading results rather than waiting for their next doctor's appointment (97%). This study demonstrates high patient satisfaction with this automated and scalable solution in a high-volume health system. As the utilization of genetic testing increases, we predict greater need for innovative healthcare delivery models.

Women's views and the impact of noninvasive prenatal testing on procedures in a managed care setting.

OBJECTIVE: To prospectively determine the impact of noninvasive prenatal testing (NIPT) on invasive procedure utilization in a managed care setting and to elucidate women's views. METHODS: Pregnant women at 10- 20 weeks' gestation with high-risk indications for fetal aneuploidy in the Kaiser Permanente Southern California organization were eligible. Enrolled patients received routine prenatal counseling, completed a questionnaire and were offered the option of NIPT by a genetic counselor. Downstream data through 28 weeks' gestation were collected from the electronic medical record (EMR). The EMR was also used to identify a matched historical cohort from 1 year prior to NIPT availability. Rates of invasive prenatal procedures were compared using McNemar's test. RESULTS: Two hundred women completed the questionnaire and underwent NIPT. Twenty-two subjects (11%) in the prospective cohort underwent an invasive prenatal procedure compared with 58 (29%) in the historical cohort (p<0.0001). Safety and accuracy were the most important factors in considering NIPT. At the time of survey, only 12% indicated being very comfortable with the possibility of undergoing amniocentesis. CONCLUSION: This prospective study demonstrates a 62% reduction in invasive prenatal procedures after NIPT testing and finds safety, accuracy, and personal beliefs key to women's decision-making.