Patient-Centered Precision Health In A Learning Health Care System: Geisinger’s Genomic Medicine Experience

Abstract

Health care delivery is increasingly influenced by the emerging concepts of precision health and the learning health care system. Although not synonymous with precision health, genomics is a key enabler of individualized care. Delivering patient-centered, genomics-informed care based on individual-level data in the current national landscape of health care delivery is a daunting challenge. Problems to overcome include data generation, analysis, storage, and transfer; knowledge management and representation for patients and providers at the point of care; process management; and outcomes definition, collection, and analysis. Development, testing, and implementation of a genomics-informed program requires multidisciplinary collaboration and building the concepts of precision health into a multilevel implementation framework. Using the principles of a learning health care system provides a promising solution. This article describes the implementation of population-based genomic medicine in an integrated learning health care system-a working example of a precision health program.

Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program

“…The results also demonstrate the use of guideline-recommended preventive services. It is important to emphasize that these results are from a structured genomic screening program reporting results to patients with support offered from genetic counseling as part of the results disclosure process [18,20]. It is also noteworthy that the initial genetic counseling visits were considered part of the research study and thus were not charged; insurance and/or the patient covered the cost of any subsequent care.…”

“…The study population was identified from the Geisinger MyCode®Community Health Initiative (MyCode) where adult volunteers from an integrated healthcare delivery system in central Pennsylvania underwent exome sequencing using research protocols detailed in previous publications [1,[18][19][20]. The study cohort was based on a population of 50,726 MyCode participants whose exome sequences were complete, were analyzed to identify potential P/LP variants, and had clinical confirmation of the research result with a report to the EHR to disclose the results between 01/01/2014 and 03/01/2016 [20].…”

Personalized Medicine and the Power of Electronic Health Records

“…Current estimates predict 3%-5% of individuals harbor a medically actionable variant (Dewey et al, 2016b), and programs that combine individual screening with cascade testing of family members are poised to capture many more affected individuals (Knowles et al, 2017). Therefore, several research endeavors are using EHR-linked biobanks to explore the clinical utility and demonstrate effective implementation models of genomic screening for preventive health and personalized medicine (Williams et al, 2018a).…”

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs

“…As a result, it is beginning to emerge into clinical practice for selected indications including pharmacogenomics [2], precision oncology [3], and diagnosis of complex conditions suspected be genetic [4]. Large scale research programs such as the All of Us program funded by the United States National Institutes of Health (NIH) [5] and smaller private clinical research programs [6,7] are beginning to explore the integration of genomic information with other health information to assess the impact on patient outcomes that, it is hoped, will ultimately result in more programs in precision public health.…”