Systems for Research and Evaluation for Translating Genome-Based Discoveries for Health: Workshop Summary

摘要

How variations in genes contribute to variations in disease risk has been a subject of study for more than 100 years (IOM, 2006). Until fairly recently research focused on single genes that give rise to rare genetic diseases such as cystic fibrosis or Huntingtons disease. With the advent of genome-wide association (GWA) studies, however, numerous associations between specific gene loci and complex diseases have been identified, for example for breast cancer, type II diabetes, coronary artery disease, asthma, and bipolar disorder (Goldstein, 2009; Hardy and Singleton, 2009; Smith and Lusis, 2009). This rapidly advancing field of genomics has stirred great interest in personalized health care from both the public and private sectors. The hope is that using genomic information in clinical care will lead to reduced health care costs and improved health outcomes as therapies are tailored to the genetic susceptibilities of patients. A variety of genetically based health care innovations have already reached the marketplace, but information about the clinical use of these treatments and diagnostics is limited. While GWA studies provide information about an association between a gene and a trait or disease, these data do not provide information about how a genomic test or other innovation impacts clinical care and patient health outcomesother approaches are needed to garner such information.