Presented at the National Society of Genetic Counselors, October 2023

‍
Introduction: The promise of genome-based precision medicine has become a reality with the significant drop in sequencing costs, improved gene and variant classification, and implementation of local, state, and national population screening programs. The primary goal of population screening is to identify individuals with inherited disease predisposition for the purposes of prevention, early diagnosis, and treatment. Initial reports from multiple population screening programs have demonstrated the feasibility and effectiveness of population screening in patient identification. However, the efficacy of clinical management after result disclosure has not been as widely discussed.

‍
Methods: A recent review article summarized ten health system- and state-level population screening programs in the United States. We performed a secondary analysis of these programs to explore current processes and implementation strategies surrounding the clinical management of positive results. PubMed and Google were queried to identify peer-reviewed publications, conference abstracts, and online materials describing each population screening program. Program information was reviewed by two individuals to identify process descriptions, implementation strategies for clinical management of genetic test results, and results from any program evaluations.

‍
Results: For eight programs, information was extracted from websites and peer-reviewed publications (including abstracts). Information on the remaining two programs was available from websites only. Descriptions of clinical management support mostly centered around the disclosure and dissemination of results with significantly less focus on long-term support. Nearly all programs either described genetic counseling as part of the results disclosure workflow or offered it as an option. Most programs facilitated the process of sharing genetic test results with providers, either through engaging them in the ordering and/or results disclosure process, automatically incorporating results into the electronic health record (EHR), or encouraging participants to share their results. Some also developed and disseminated resources to help providers and patients interpret test results and guide next steps (e.g., fact sheets, clinical care pathways, clinical decision support). However, these were generally focused on initiating care and there was much less focus on longitudinal follow-up and ongoing care plan management. Two programs that evaluated provider experiences learned that they lacked confidence in managing test results and have a need for more support and education. We found very limited information on adherence to management recommendations, effect on health outcomes, and feasibility of implementing longitudinal strategies. Our review was limited to publicly-available information on a pre-selected list of programs; therefore, it may not be inclusive of all programs and strategies.
‍

Conclusions:Millions of individuals have had their genomes sequenced so far, and the accelerating pace highlights the need for longitudinal solutions to translate genomic information into improved health outcomes. Our review of ten programs revealed that there is notable variability in the degree to which health systems address and support the ongoing management of clinically-actionable findings. Programs appear to be evolving toward putting more information into the EHR in more accessible locations and creating more resources for providers. However, many providers continue to lack confidence in discussing and managing results. To incorporate genetics in clinical practice, patients and providers not only need a shared view and understanding of the genetic test result but also an explicit care plan that takes into account the latest medical guidelines and the unique and evolving needs of the patient. We propose a comprehensive digital platform that includes an EHR-integrated, evidence-based, clinical decision support system, that empowers providers and patients to manage disease risk through personalized care plans and tailored education modules. We believe that such a solution will enable organizations to implement large scale genomic programs equitably, with greater adherence and high patient and provider satisfaction.