Background
Genomics research is one of the most promising and fastest-moving areas in biomedicine today. Substantial resources have been dedicated to genomics throughout the health agencies of the Department of Health and Human Services (HHS), in other departments of the federal government, through federally-supported efforts in academia, and in privately-supported research including the pharmaceutical and biotechnology sectors.
These investments reflect both the excitement surrounding a new realm of biological knowledge and expectation of high potential returns for improved effectiveness in health care and health outcomes.
Genomics research covers a wide variety of different activities and purposes, from genome-wide association studies, to population genetics, to potential pharmacogenomic applications. Likewise, genomic information is already being applied across a spectrum of public health and health care delivery activities.
With such variety, it is not surprising that different research approaches and different data reporting methodologies have arisen. What is less apparent is the opportunities that may be missed when data developed under different protocols or for different purposes are not captured in ways that could make the information useful for broad application across the health care enterprise—in research, in medical product evaluation and review, and ultimately in clinical care delivery.
The potential for data exchange in the realm of genomics research is especially significant.
In part, this is because the field is developing simultaneously with the adoption of electronic data technologies that enable rapid sharing of information and the ability to mine such data directly. The importance of data exchange for genomic research also stems from the large amount of information needed to discover and validate genomic findings and applications. In the longer term, information technology will also be crucial in the delivery of genomic-supported medical care.
A key prerequisite for all these purposes is data standards harmonization adequate to support electronic exchange and processing of genomics information. While standards must allow for growth and change in the field, harmonization of terminologies and standards for minimum data input are essential for making best use of the range of efforts currently supported.