New Online Toolkit to Standardize Measures and Protocols in Genetic Research

Scientists who conduct genetic studies will now have a new set of tools to refine estimates of disease risk and extend the findings of one study to other studies or across population groups. The tools, a set of standard measures and research protocols, are part of a U.S. effort designed to accelerate understanding of the complicated genetic and environmental factors associated with cancer, heart disease, depression, and many other common diseases.

Collectively called the PhenX Toolkit, the measures and protocols were developed as part of the three-year collaborative research effort, called PhenX (pronounced "phoenix"), which is a combination of the words phenotype and exposures. The effort, being led by the independent, nonprofit research organization RTI International (Research Triangle Park, NC, USA), is funded by the U.S. National Institutes of Health's National Human Genome Research Institute (Bethesda, MD, USA). "The use of standard measures is vital to furthering our knowledge of the many complex relationships between genetics, environmental factors, and common diseases," said Carol M. Hamilton, Ph.D., director of bioinformatics at RTI and the project's lead investigator.

The initial release of the toolkit includes the high-priority measures selected by panels with expertise in demographics; anthropometrics (measures of body size and proportion); and alcohol, tobacco, and other substances. Experts in the cardiovascular field, as well as those with expertise in nutrition and dietary supplements, are currently working to identify measures that will be added to the toolkit within the next few months.

In all, the toolkit is expected to include about 300 high-priority measures covering a range of conditions and exposures relevant to common diseases. Users of the toolkit can browse measures and protocols, search using keywords, generate reports, and select measures for use in their studies. The use of consensus measures in their studies allows researchers to pool study results, increase the capability to identify associations, and facilitate comparison of different studies.

The initial measures and protocols were developed over the past 12 months by three expert panels, with contributions from more than 100 scientists from diverse scientific and health disciplines who participated or served as reviewers.

RTI International is one of the world's leading research institutes, focused on improving the human condition by turning knowledge into practice. The company's staff of more than 2,800 provides research and technical expertise to governments and businesses in more than 40 countries in the areas of health and pharmaceuticals, education and training, surveys and statistics, advanced technology, international development, economic and social policy, energy and the environment, and laboratory and chemistry services.

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