Precision or personalized medicine through clinical genome and exome sequencing has been described by some as a revolution that could transform healthcare delivery, yet it is currently used in only a small fraction of patients, principally for the diagnosis of suspected Mendelian conditions and for targeting cancer treatments. Given the burden of illness in our society, it is of interest to ask how clinical genome and exome sequencing can be constructively integrated more broadly into the routine practice of medicine for the betterment of public health. In November 2014, 46 experts from academia, industry, policy and patient advocacy gathered in a conference sponsored by Illumina, Inc. to discuss this question, share viewpoints and propose recommendations. This perspective summarizes that work and identifies some of the obstacles and opportunities that must be considered in translating advances in genomics more widely into the practice of medicine.

Since its founding in 2013, Coriell Life Sciences (CLS) has built technologies leveraging genetic testing to empower physicians and has invested in research that advances the field of personalized medicine. The company focuses on development, implementation and research with expertise in medication safety, pharmacogenomics, infectious diseases and healthcare analytics. CLS works with healthcare institutions, laboratories, pharmacy benefit management companies, self-insured employers and public sector entities and actively contributes to scientific and clinical consortia. This overview summarizes the CLS service architecture and delivery capabilities for medication safety and risk reporting for pharmacogenomics, comprehensive medication management and infectious diseases. It includes the development and ongoing curation of genetic and non-genetic knowledge repositories, technology infrastructure and end points and research endeavors and it reviews economic, clinical and humanistic outcomes of CLS’ pharmacogenomics-enriched comprehensive management program.

An ever-expanding annotation of the human genome sequence continues to promise a new era of precision medicine. Advances in knowledge management and the ability to leverage genetic information to make clinically relevant, predictive, diagnostic, and targeted therapeutic choices offer the ability to improve patient outcomes and reduce the overall cost of healthcare. However, numerous barriers have resulted in a modest start to the clinical use of genetics at scale.Examples of successful deployments include oncologic disease treatment with targeted prescribing, however, even in these cases, genome informed decision making has yet to achieve standard of care in most major health care systems. In the last two decades, advances in genetic testing, therapeutic coverage, and clinical decision support have resulted in early-stage adoption of pharmacogenomics-the use of genetic information to routinely determine the safety and efficacy profile of specific medications for individuals. Here, via their complicated histories, we review the current state of pharmacogenomic testing technologies, the information tools that can unlock clinical utility, and value-driving implementation strategies that represent the future of pharmacogenomics enabled healthcare decision-making. We conclude with real-world economic and clinical outcomes from a full-scale deployment and ultimately provide insight into potential tipping points for global adoption, including recent lessons from the rapid scale-up of highvolume test delivery during the global SARS-CoV2 epidemic.