RTI International Leads Effort to Create Standard Measures for Population Genomics Research

RESEARCH TRIANGLE PARK, N.C. -- As part of an effort to maximize the benefits of research exploring the relationships between genetics, environment, health and disease, RTI International scientists will work with experts in a variety of health fields to develop a set of standard measures to be used in future genetics research. The project, PhenX (pronounced "phoenix"), will develop consensus measures for phenotypes and exposures.

The research is funded by a three-year cooperative agreement with the National Institutes of Health's National Human Genome Research Institute, worth up to $6.8 million.

"In recent years, there have been many good studies looking at the relationship between genetics and various health conditions and diseases," said Carol M. Hamilton, Ph.D., director of Bioinformatics at RTI and the project's principal investigator. "Unfortunately, the lack of standard measures in these studies often does not allow researchers to combine or compare their findings."

According to Hamilton, the strength of population-based genomics studies is dependent on the number of participants. Thus, the ability to combine the results of small, complementary studies will make it possible to gather additional information and to gain a better understanding of how genetics and environment impact health and disease.

"The ability to combine the results of these studies is critical to furthering our knowledge of the many complex relationships between genetics and environmental factors," Hamilton said. "The goal of our project is to make such integration possible."

The standard measures will be recommended for use in Genome-Wide Association Studies and other large-scale population genomic and epidemiologic research efforts to maximize the benefits of future research.

RTI was chosen, in part, because of the breadth of expertise of its scientists. This effort will involve the assessment of a broad range of diseases and conditions. RTI researchers will work with scientists and health experts from 20 different research specialties to develop the measures.

The initial focus of the study will be to develop measures for common complex diseases such as cardiovascular, neurologic, endocrinologic and renal conditions.

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