Introduction: Over the last five years, our health system has focusedon integrating genetics into primary care, as a part of routine medicalcare. Building on our previous genetic initiative implementationresearch findings from key stakeholders in primary care, severalcritical areas were identified for improvement: an enhanced clinicianeducation and feedback mechanism and a more robust integration ofgenetics in the electronic health record (EHR). To address these areas,we implemented three key enhancements: the Genomic Ambassadorprogram, Genomic Indicator, and Care Pathway.Population Genetic Testing Program Evolution: After the conclusionof our pilot population genetic testing program, DNA-10 K, theprimary care genetics program shifted to merging our two previousprimary care projects, the Genetic Wellness Assessment (GWA) andDNA-10 K. The GWA is a targeted family history tool. Patients seen fortheir annual physical exam at one of 14 primary care sites (InternalMedicine, Family Medicine, OB/GYN) qualified for this program. Thesepatients complete the GWA and are then offered a 74 gene nextgenerationsequencing panel assessing pharmacogenetics, hereditarycancer, and cardiovascular risk, as well as a low-pass whole genomeassay to assess “fun facts and traits” (e.g., ancestry, cilantropreference). The test is the same panel used in DNA-10 K and had anout-of-pocket cost of $175. The merged program started on January 20,2020. COVID-19 offered an opportunity to challenge our implementationand determine if we have been able to sustainably embedgenetics in primary care in the face of newchallenges encountered byour primary care physicians.Enhancements: The Genomic Ambassador program is an educationand feedback forum consisting of 8 volunteer primary care clinicians.This group met once a month, and the clinicians received a stipend fortheir efforts. The meetings had alternating focuses between geneticseducation and program feedback. The genetic education sessionsincluded basic scientific information, clinical cases, and practicalinformation about clinical decision support tools in our EHR. Thefeedback sessions were used to hear directly from the clinicians whatwas working and was not working, and solicit solutions for theproblems identified. These sessions were especially helpful in understandingthe additional pressure on the practices due to COVID-19.After the ambassadors completed eight months of the program, theywere trained to become peer-to-peer educators in their practices. Genomic Indicators and Care Pathways are tools available in the EPICEHR. Genomic indicators are structured as discrete groupings such asBRCA1 pathogenic variant. They are automatically assigned to apatient when their genetic results have resulted in the EHR. TheGenomics indicators have been linked to a short summary andexternal links to provide clinicians with real-time genetic educationalopportunities. Additionally, genomic indicators are used to assign acare pathway to patients. Care pathways are a structured tool that laysout the recommended path a patient takes for screening after apathogenic, or likely pathogenic, variant has been identified. To date,we have only developed a care pathway for breast cancer screening. Itis currently being used to track how well patients adhere torecommendations and identify areas of improvement. Preliminarywork has begun on a care pathway for familial hypercholesterolemia.These enhancements are awork-in-progress and will need continuousevaluation and improvement to increase our patient population’sunderstanding, access, and use of genomic testing and follow-upservices.Conclusion: As a course of regular business, we reviewed ourutilization metrics for 2020, there were 130,364 patients whoqualified for the merged program from 1/20/2020 to 12/31/2020.Weekly completion rates for the GWA component ranged from 39.9%to 54.5%, with a mean of 46.8%, similar to previous versions of GWA.The weekly totals for patients completing testing ranged from 11 to113, with a mean of 50. At the end of 2020, through this program andt e DNA-10 K program, 12,350 patients had completed testing withtheir results integrated into the EHR. We believe this data highlightsthe progress made in making genetics a routine part of our healthsystem’s primary care.The Genomic Ambassador program, Genomic Indicator, and CarePathwaywere critical enhancements to the current program and likelycontributed to its ability to continue through COVID-19. Theseadditions provided an education mechanism, a feedback forum, andmade our EHR integration more robust. These types of programmaticsolutions will continue to be sought and evaluated in our healthsystem and may be key to other successful genomic testingimplementations.
Three program enhancements to advance population genetic screening in a community health system during 2020