December 20, 2010

New Tools Available for Genetics Research

Media Contacts

Carol Hamilton
Carol Hamilton

RESEARCH TRIANGLE PARK, N.C.—This week RTI International released a new version of a free online "toolkit" to help genetics researchers consistently measure and report physical traits and environmental exposures.

The toolkit, called PhenX (a combination of Phenotype and eXposures), provides nearly 300 standard measures and protocols across 21 different research areas. These measures are intended for use in genome wide association and other large-scale research studies.

Use of the measures by researchers who perform such studies will bolster efforts to compare data from multiple studies, accelerating efforts to understand the complex genetic and environmental factors that contribute to diseases such as cancer and heart disease.

The toolkit, available at, is funded by the National Institutes of Health's (NIH) National Human Genome Research Institute (Cooperative Agreement U01 HG004597) and has received support from the NIH Office of Behavioral and Social Sciences Research.

The measures and protocols in the toolkit were selected over the past three years by working groups of more than 200 scientists from diverse scientific and health disciplines, including many participants from NIH institutes and centers, using a consensus-based process.

"It is exciting for all of us who worked on the project to see this powerful resource emerge for the scientific community," said Carol M. Hamilton, Ph.D., director of bioinformatics at RTI who leads the effort. "We all hope that the PhenX Toolkit will usher in a new era of collaborative research that will have a positive impact on biomedical science and the human condition."

Researchers can browse or search the toolkit to review and select measures to use in their studies. For each measure, the toolkit has associated protocol(s), references, and links to resources. The toolkit also provides tools, such as data collection worksheets to help investigators integrate PhenX measures into their study design.

The toolkit allows investigators to expand a study beyond the primary research focus by adding PhenX measures to the study design. As more and more investigators incorporate PhenX measures into their studies, combining and comparing studies will become easier and more statistically powerful, thus allowing investigators to detect moderate genetic associations and more complex associations such as gene-gene and gene-environment.

For more information about PhenX, visit