Time to Educate Physicians and Hospital Staff in Electronic Medical Records for Precision Medicine

Abstract

Over the past decade, inexpensive and dense sequencing technologies have led to many genetic discoveries. Single nucleotide polymorphisms associated with over 250 different phenotypes have been identified by genome-wide association studies. Lack of large cohorts with adequately defined phenotypes has hindered further progress. This hindrance in genetic research can be overcome by electronic health records. These electronic health records have been recognized as a viable and efficient model for genetic research. The drawback of currently existing digitalized data and information in multiple unstructured formats continue to generate huge amount of information leading to difficulty in accessing invaluable and newly discovered knowledge. Connecting molecular data, individual genome sequence, patient phenotype, experimental data, and follow-up details is a big task. Road block to this monumental task of integration and interoperability are ethical, legal, and logistics. Data security and protection of patient rights are a must to maintain public support. In this chapter we have highlighted the advantages and challenges of using electronic health record data for genetic research as well as novel approaches and significant initiatives contributing toward precision medicine. ? 2017 Elsevier Inc.