2011 News Feature: NHGRI Funds Now Available to Include Standard Measures in Genomic Studies

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


NHGRI Funds Now Available to Include Standard Measures in Genomic Studies

By Geoff Spencer
NHGRI Staff Writer

If you are a genetic researcher conducting a genome-wide association or other large-scale research study, the National Human Genome Research Institute (NHGRI) wants you to incorporate standardized measures now available to collect research subjects' physical characteristics and environmental exposures that allow cross-study comparisons. Nearly 300 standardized measures and protocols across 21 different research areas can be downloaded for free from the Consensus Measures for Phenotype and eXposures (PhenX) Toolkit [phenxtoolkit.org].

In an effort to stimulate the uptake and evaluate the use of PhenX measures in population-based genomic studies, NHGRI and the NIH office of Behavioral and Social Sciences Research (OBSSR) are currently offering supplemental funding to incorporate eight to ten PhenX measures into new or existing NIH-funded population-based studies. Up to $700,000 is available in fiscal year 2011. The deadline to apply for the funding is March 25, 2011. See: Notice of Amendment and Re-issuance of Administrative Supplements for the Addition of Standard Measures to Population-based Genomic Research: The PhenX Toolkit [grants.nih.gov].

While genome-wide association studies have identified more than a thousand associations between genetic variants and common disease such as cancer and heart disease, the majority of the studies do not share common measures.

"As more and more investigators incorporate PhenX measures into their studies, the research data can be more readily combined and compared across a wide range of disease studies that use the same measures," said Erin Ramos, Ph.D., an epidemiologist in NHGRI's Office of Population Genomics and an NIH project scientist with the PhenX project. "Using such measures will strengthen the research community's ability to discover the genetic and environmental factors involved in common diseases."

Cross-study comparisons can help researchers to refine estimates of disease risk, as well as to extend the findings of one study to other population groups. Theoretically, by comparing studies that utilize the standard measures in the PhenX Toolkit, researchers could more easily combine the results for each measurement from an obesity study with the results from a diabetes study to examine the overlap of genetic factors in the two health conditions.

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. RTI International of Research Triangle, N.C. led the project.

The measures available in the 21 research areas include demographics, cancer, cardiovascular, diabetes, environmental exposures, social environments and oral health. Currently, the top 20 measures downloaded by researchers include things like age, weight, tobacco-smoking status, air contaminants in the home environment and lipid profile.

For each measure, the toolkit has associated protocol(s), references, and links to resources. The toolkit also provides tools such as a tutorial and data collection worksheets to help investigators integrate PhenX measures into their study design. In addition, researchers can register to save their measures and notes and join a toolkit user's network to collaborate and share information and experiences with other researchers who have adopted PhenX measures.

For general information about the PhenX program contact the Project Scientist, Erin Ramos at ramoser@mail.nih.gov or 301-451-3706. For more information about the supplement funding, contact Heather Junkins at junkinsh@mail.nih.gov or 301-402-0343.

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Last Reviewed: March 12, 2012