Abstract
BackgroundThe purpose of this manuscript is to describe the PhenX RISING network and the site experiences in the implementation of PhenX measures into ongoing population-based genomic studies.MethodsEighty PhenX measures were implemented across the seven PhenX RISING groups, thirty-three of which were used at more than two sites, allowing for cross-site collaboration. Each site used between four and 37 individual measures and five of the sites are validating the PhenX measures through comparison with other study measures. Self-administered and computer-based administration modes are being evaluated at several sites which required changes to the original PhenX Toolkit protocols. A network-wide data use agreement was developed to facilitate data sharing and collaboration.ResultsPhenX Toolkit measures have been collected for more than 17,000 participants across the PhenX RISING network. The process of implementation provided information that was used to improve the PhenX Toolkit. The Toolkit was revised to allow researchers to select self- or interviewer administration when creating the data collection worksheets and ranges of specimens necessary to run biological assays has been added to the Toolkit.ConclusionsThe PhenX RISING network has demonstrated that the PhenX Toolkit measures can be implemented successfully in ongoing genomic studies. The next step will be to conduct gene/environment studies.
Highlights
The purpose of this manuscript is to describe the PhenX RISING network and the site experiences in the implementation of PhenX measures into ongoing population-based genomic studies
Study-specific protocols and data will eventually be available in dbGaP for all of the PhenX RISING sites
Asian Indian Diabetic Heart Study/Sikh Diabetes Study (AIDHS/SDS) Quantification of serum biomarkers using PhenX Toolkit measures were performed on frozen serum samples of participants with genotyping data available from genome-wide association scans (GWAS)
Summary
The purpose of this manuscript is to describe the PhenX RISING network and the site experiences in the implementation of PhenX measures into ongoing population-based genomic studies. The PhenX (consensus measures for Phenotypes and eXposures) Toolkit (www.phenxtoolkit.org) is a set of validated measures across 21 research domains that can be used to facilitate cross-study comparisons to increase statistical power to study gene/environment interactions [1,2]. The National Human Genome Research Institute (NHGRI) issued administrative supplements for the addition of PhenX measures into existing populationbased genomic studies sponsored by NIH to evaluate the usefulness of the PhenX measures and to stimulate their uptake (http://grants.nih.gov/grants/guide/notice-files/ NOT-HG-11-009.html). Seven research groups were funded through this granting mechanism, coming together to form
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