A National Agenda for the Future of Pathology in Personalized Medicine

Abstract

In October 2010, representatives and thought leaders from major national pathology organizations and a diverse group of other stakeholders gathered at the Banbury Conference Center, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, to examine opportunities and challenges facing the discipline of pathology and its future role in the rapidly developing field of personalized medicine. A major focus of the meeting was assessment of the potential impact of next-generation sequencing (NGS) and whole-genome analysis (WGA) in medicine and, specifically, in clinical laboratory practice. (We define WGA as the sequencing of DNA and the alignment, variation calling, quality estimation, and annotation of one entire human genome.) The clearly articulated goal of the pathologists in attendance was to develop a national strategy to ensure that the performance, interpretation, and regulation of genome-based clinical testing come directly under the purview of pathologists and their national organizations. In devising a strategy to guide the development of “genome era” pathology, 3 fundamental themes emerged from the discussions: 1. A lifetime of genomic information. NGS is a “disruptive” technology capable of catalyzing fundamental changes in medical care. It is increasingly plausible to anticipate that healthy people, including newborns, will have their genomes sequenced as the foundation of personalized programs of lifelong health promotion, disease prevention, and, when necessary, disease management. This paradigm shift in clinical laboratory testing presents the discipline of pathology with an unprecedented opportunity to reinvent itself as a primary care discipline . At the least, pathologists have the opportunity to provide expert support to every physician—primary care or otherwise—who cares for people whose genomic information is known. There is also an opportunity for pathologists to be curators of genomic information during the course of each person’s lifetime, providing up-to-date interpretations of genomic information in the context of intercurrent health events and needs. 2. Pathology scope …