Democratizing genomics: Leveraging software to make genetics an integral part of routine care

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.

Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer

“… 19 Another innovative approach is the implementation of software that performs human-like conversations with users via text messages (chatbot) to initiate the genetic testing process, collect patients' relevant family and personal histories, support their pre- and post-test counseling needs, and help return results. 82 In addition, online tools that help clinicians interpret results, such as ASK2ME, 83 allow clinicians without genetics expertise to use test results in clinical decision making. Multiple professional organizations are developing and implementing solutions to this challenge, including novel strategies for the delivery of pretest informed consent and genetic counseling.…”

Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study

“…[76][77][78] New technological advances aimed to streamline the genetic testing process, such as the use of chatbots and continuous improvements to telecounseling, may help to broaden the utilization of testing for patients and their families. 79 This analysis grouped Latin American regions into two groups in an effort to achieve sample sizes that would overcome statistical biases. However, because of the significant admixture of populations across these regions, the interpretation is limited by this grouping.…”

The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives

“…However, ongoing studies, such as the IMPACT-FH (Identification Methods, Patient Activation, and Cascade Testing for FH) study ( Campbell-Salome et al, 2021 ), are exploring strategies that increase the uptake of cascade testing in population-based screening programs. However, learnings from the diagnostic setting may provide some insights, including the availability of clinician-drafted letters ( Newson and Humphries, 2005 ; Suthers et al, 2006 ; Hadfield et al, 2009 ; Dilzell et al, 2014 ; Petersen et al, 2019 ; Kurian and Katz, 2020 ; Neuner et al, 2020 ), access to support from foundations focused on a single condition or clinical area ( Bell et al, 2015 ; Wald et al, 2016 ; McGowan et al, 2021 ), and access to educational materials that are easily shared outside of a clinical setting ( Kardashian et al, 2012 ; Petersen et al, 2019 ; Bowen et al, 2020 ; Jujjavarapu et al, 2021 ; Nazareth et al, 2021 ; Nitecki et al, 2021 ; Snir et al, 2021 ). When considering approaches to encouraging at-risk relatives to ultimately seek cascade testing, programs have been designed to offer cascade testing at reduced rates or at no-charge for relatives ( Aktan-Collan et al, 2007 ; Caswell-Jin et al, 2019 ; Courtney et al, 2019 ; Invitae, 2021 ).…”