Democratizing genomics: Leveraging software to make genetics an integral part of routine care. Issue 1 (9th December 2020)

• Record Type: Journal Article
• Authors: Snir, Moran; Nazareth, Shivani; Simmons, Emilie; Hayward, Laura; Ashcraft, Kristine; Bristow, Sara L.; Esplin, Edward D.; Aradhya, Swaroop
• Other Names: Solomon Benjamin D. guestEditor.
• Is Part Of: American journal of medical genetics. Volume 187:Issue 1(2021)
• Page Start: 14
• Page End: 27
• Publication Date: 2020-12-09
• Subjects: Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31866
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract: Genetic testing can provide definitive molecular diagnoses and guide clinical management decisions from preconception through adulthood. Innovative solutions for scaling clinical genomics services are necessary if they are to transition from a niche specialty to a routine part of patient care. The expertise of specialists, like genetic counselors and medical geneticists, has traditionally been relied upon to facilitate testing and follow‐up, and while ideal, this approach is limited in its ability to integrate genetics into primary care. As individuals, payors, and providers increasingly realize the value of genetics in mainstream medicine, several implementation challenges need to be overcome. These include electronic health record integration, patient and provider education, tools to stay abreast of guidelines, and simplification of the test ordering process. Currently, no single platform offers a holistic view of genetic testing that streamlines the entire process across specialties that begins with identifying at‐risk patients in mainstream care settings, providing pretest education, facilitating consent and test ordering, and following up as a "genetic companion" for ongoing management. We describe our vision for using software that includes clinical‐grade chatbots and decision support tools, with direct access to genetic counselors and pharmacists within a modular, integrated, end‐to‐end testing journey.