Precision Population Medicine in Primary Care: The Sanford Chip Experience.

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.

Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado.

BACKGROUND: Germline mutations in the BRCA1 and BRCA2 genes are associated with an inherited predisposition to breast and ovarian carcinoma, and specific mutations in these genes are found at increased frequency in certain populations. The authors observed a repeated occurrence of the 185delAG mutation (BRCA1; also known as 187delAG) in a non-Jewish population that originated from the San Luis Valley in Colorado. METHODS: This was a retrospective analysis of mutations that occur in non-Jewish Americans of Spanish ancestry from Colorado who were tested clinically for BRCA1 and BRCA2 genetic mutations using DNA sequencing. RESULTS: Between August 1994 and December 2001, 19 Spanish/Latin American individuals from different families underwent genetic counseling and clinical genetic testing using direct DNA sequencing for mutations of the BRCA1 and BRCA2 genes. The results showed that 10 of 19 individuals had mutations or variants of BRCA1 or BRCA2, and 6 of 10 individuals (60%) carried the 185delAG mutation in BRCA1. All six families originated from the San Luis Valley in Colorado, indicated that they were of Spanish/Latin American ethnicity, and denied Jewish ancestry. CONCLUSIONS: The 185delAG mutation is common in families of non-Jewish ancestry originating from the San Luis Valley in Colorado with hereditary breast/ovarian carcinoma, possibly due to a founder effect. Further investigation may lead to simplified genetic testing and may allow clinicians to serve this population better. The repeated occurrence of the 185delAG mutation in this specific population may have clinical and public health implications.