Online Toolkit for Genetic Research Expands Focus on Substance Abuse and Addiction

RESEARCH TRIANGLE PARK, N.C. — RTI International has added a collection of substance abuse and addiction-related measures to an online toolkit aimed at helping researchers better understand the relationships between genetics, health, disease and environment.

The PhenX (pronounced "phoenix") Toolkit, available at, provides access to more than 300 well-established standard measures of phenotypes and exposures across 21 different fields of research. The free toolkit is intended for use in genome-wide association studies and other large-scale human population studies.

The PhenX Substance Abuse and Addiction (SAA) Project was launched in early 2011 to increase the range and quantity of measures relevant to substance abuse and addiction resident in the PhenX Toolkit. Funding for this subset of the PhenX Project was provided by the National Institute on Drug Abuse. As a result of this effort, 43 new measures, presented as one core collection and six specialty collections, have been added to the PhenX Toolkit.

The measures were chosen by working groups of expert scientists using a consensus-based approach. Each measure was vetted through community outreach before being added to the toolkit. The core collection, which contains measures broadly relevant to addiction research, was drawn from existing toolkit measures as well as incorporating newly developed specialty measures.

"These measures expand the depth and breadth of substance abuse and addiction-related measures in the PhenX Toolkit," said Carol M. Hamilton, Ph.D., director of bioinformatics at RTI and the project's principal investigator. "They provide a framework for investigators striving to understand the complex genetic and environmental factors that contribute to addiction, and the measures are a mechanism to collect data in a standardized fashion."

This publicly available resource makes it easy for investigators to expand their study. They can visit the toolkit and select measures that they know were recommended by experts. This approach aids data comparability and sharing, leading to new discoveries that will impact public health and quality of life.

The overall funding for PhenX has been provided by the National Institutes of Health's National Human Genome Research Institute through a cooperative agreement with RTI International. Begun in 2007, the toolkit measures were selected by a group of more than 200 scientists from diverse scientific and health fields.


  • Substance abuse and addiction-related measures developed by RTI International were added to the online PhenX Toolkit
  • The toolkit helps researchers understand relationships between genetics, health, disease and environment
  • PhenX includes more than 300 standard measures of phenotypes and exposures from 21 different research fields
  • The new measures were developed with funding from the National Institute on Drug Abuse