Evaluation of population-based genomic screening programs in an integrated health system utilizing the RE-AIM framework

Background: Population-based genomic screening has the potential of improving ascertainment of individuals at increased risk for severe but clinically actionable conditions. However, the clinical utility and public health impact of population genomics-based screening will depend upon the context in which the screening occurs and how it is implemented. Geisinger in central Pennsylvania is conducting population-based genomic screening in multiple contexts: the MyCode Genomic Screening and Counseling (GSC) program that returns medically actionable genomic results to MyCode biobank participants and the PopHealth clinical screening program that offers screening as part of primary care. Public Health Significance: Evaluation of these programs will provide evidence for the clinical utility of population genomics-based screening, as well as generate insights for successful implementation of such programs in the real world. Methods: To understand the impact and utility of population screening as a whole, a comprehensive program evaluation was conducted across these different contexts using the RE-AIM framework. Results: 68% (215,078/315,392) of approached Geisinger patients enrolled in the MyCode biobank and were eligible to receive actionable genomic results. A number of studies conducted and published by the GSC team have showed that the program was able to identify at-risk individuals who did not have clinical indication for testing and facilitate risk management. The PopHealth clinical screening program has been implemented in 3 primary care and specialty clinics, however, only 32.7% (56/171) the eligible providers in the pilot clinics have ordered the test for patients, and fewer have ordered the test consistently. Conclusion: A majority of Geisinger patients were willing to participate in population genomics screening in the research setting, and most patients who received a medically actionable result followed-up with risk-management procedures. Our results have demonstrated the feasibility of integrating population-based genomic screening in the clinical context, yet many knowledge gaps remained about providers’ adoption and implementation of the program, as well as whether the program can be sustainably implemented in the long term