Chapter 33 - Precision medicine: Overview and challenges to clinical implementation

Abstract

Precision medicine pivots on the integration of patients’ individual data including genetic and genomic data, digital health measures, and social health factors, for the prevention, diagnosis, and treatment of disease. Initially referred to as personalized medicine, the field (and its name) have evolved to encompass a wide range of measures to enable delivery of more precise healthcare. As the range and scope of technologies have expanded, so too have the challenges to analyze, develop evidence-based guidelines and promote routine utilization of treatment. With respect to genetics and genomics, precision medicine is moving from a single test or type of data like a gene sequence to large-scale assessments of molecular-based changes that are impacted by and can impact the macro- and microenvironment, including the those of both the host genome and that of the microbiome. Several areas of research are actively under investigation that have revealed sex-specific differences and new clues about human health and disease. These areas of research and ensuing clinical applications raise a host of issues that will need to be addressed to enable the successful and timely transition the clinic. This chapter aims to provide an overview of genome sciences, examples of clinical applications, and challenges related to clinical implementation.