OBJECTIVE: Describe a technology platform designed for large-scale dissemination of carrier screening information and results.
DESIGN: Retrospective analysis of de-identified individuals whose carrier screening results were delivered through an automated platform.
MATERIALS AND METHODS: Counsyl has developed a technology platform for automated results delivery for carrier screening results, genetic education, and genetic counseling. Carrier screening results issued through Counsyl’s automated results delivery system were analyzed. Data collected included how many patients requested genetic consultations, type of consultation (scheduled or on-demand) and duration, stratified by result type, and patient consultation satisfaction.
RESULTS: Over an eight-year period, 278,318 carrier screening results were issued through the system. Of these, 41,050 patients (15%) elected genetic counseling, resulting in a total of 43,343 consultations. Half of all consultations were for patients who received negative results. Approximately 32% of all consultations completed were on-demand. Median consultation time was ten minutes (interquartile range: 5-15 minutes) for all results. The median patient satisfaction rating for consultations was 4.9/5.0.
CONCLUSIONS: Carrier screening is a long established aspect of reproductive care, and guidelines highlight the importance of timely results delivery in the context of genetic counseling. Combining web education, counseling, and automated notifications, we implemented a service that efficiently manages results disclosure. Approximately half of patients choosing to schedule a consultation had negative results, demonstrating a desire for post-test genetic counseling irrespective of test results. Our data demonstrate that a technology platform for carrier screening results delivery is an efficient and scalable means of manifesting medical guidelines on post genetic testing patient management. Use of platforms such as that described here are important for maintaining quality care as genetic testing uptake grows among the general population.