Precision Population Medicine in Primary Care: The Sanford Chip Experience

Abstract

Genetic testing has the potential to revolutionize primary care, but few health systems have developed the infrastructure to support precision population medicine applications or attempted to evaluate its impact on patient and provider outcomes. In 2018, Sanford Health, the nation’s largest rural nonprofit health care system, began offering genetic testing to its primary care patients. To date, more than 11,000 patients have participated in the Sanford Chip Program, over 90% of whom have been identified with at least one informative pharmacogenomic variant, and about 1.5% of whom have been identified with a medically actionable predisposition for disease. This manuscript describes the rationale for offering the Sanford Chip, the programs and infrastructure implemented to support it, and evolving plans for research to evaluate its real-world impact.

SLCO1B1*5 Allele Is Associated With Atorvastatin Discontinuation and Adverse Muscle Symptoms in the Context of Routine Care

“…Study design included a retrospective assessment of prescribing pattern in a large observational cohort. Sanford Health and the Sanford Medical Center represent a fully integrated healthcare system in the upper Midwestern United States with a longstanding comprehensive electronic medical record, and the majority of patient records in this system have been electronic for over a decade 20 . This record includes comprehensive problem lists, detailed diagnoses and procedures, detailed prescription history, and access to over a decade of laboratory results.…”

Elective genomic testing: Practice resource of the National Society of Genetic Counselors

“…• The cost-effectiveness of identifying these variants and implementing various management approaches Christensen, Vassy, et al, 2018;Zhang et al, 2019) • The health behaviors of these individuals and their families (Christensen, Bell, et al, 2021;Christensen, Schonman, et al, 2021)…”

“…Recommendations for medical management and cascade testing of EGT recipients with an actionable variant may be distinct from the approach in existing guidelines that focus on individuals who receive results in the context of a personal or family history of disease, particularly if an individual's initial evaluation shows no evidence of disease (Murray et al, 2020). Provision of an accurate risk assessment and optimal health behavior recommendations to these individuals will require more data about the clinical utility of EGT results including: The short‐ and long‐term health outcomes of individuals and their family members to calculate positive predictive value of these variants The cost‐effectiveness of identifying these variants and implementing various management approaches (Christensen, Phillips, et al, 2018; Christensen, Vassy, et al, 2018; Zhang et al, 2019) The health behaviors of these individuals and their families (Christensen, Bell, et al, 2021; Christensen, Schonman, et al, 2021) …”

“…Individuals pursuing EGT may self-refer, participate through a research study, or be offered testing through their health system (Anderson et al, 2021;Blout Zawatsky et al, 2021;Christensen, Bell, et al, 2021;Christensen, Schonman, et al, 2021;Cochran et al, 2021;David et al, 2021;Denny et al, 2019;Lemke et al, 2020;Machini et al, 2019;Sanford Imagenetics, 2020;Schwartz et al, 2018).…”

“…Individuals may pursue EGT to learn personally relevant health‐related information, mitigate future health risks, satisfy general curiosity, and, where relevant, contribute to research (East et al, 2019; Linderman et al, 2016; Schmidt et al, 2019; Suckiel et al, 2016). Individuals pursuing EGT may self‐refer, participate through a research study, or be offered testing through their health system (Anderson et al, 2021; Blout Zawatsky et al, 2021; Christensen, Bell, et al, 2021; Christensen, Schonman, et al, 2021; Cochran et al, 2021; David et al, 2021; Denny et al, 2019; Lemke et al, 2020; Machini et al, 2019; Sanford Imagenetics, 2020; Schwartz et al, 2018).…”