March 19, 2008

PhenX Newsletter - Information and Updates Issue 1. March 19, 2008


Welcome to PhenX


In September 2007, the National Human Genome Research Institute (NHGRI) funded a three-year cooperative agreement to coordinate the development and dissemination of a "toolkit" of phenotype and exposure measures for use in genome-wide association studies and other large-scale genomic research efforts. Dr. Carol Hamilton and her team from RTI International (Research Triangle Park, NC) were the recipients of this award. The project is named "PhenX" (pronounced like "phoenix") for Phenotype and eXposure measures. The goal of PhenX is to establish consensus on a set of standard measures for up to 20 domains relevant to genomics research and public health. The PhenX Steering Committee (SC), comprising scientists from the research community, is providing leadership in the selection of domains and domain experts. For more information, visit


  Carol M. Hamilton is the RTI Principal Investigator for the PhenX project. Dr. Hamilton has experience in molecular biology, technology development, analysis of complex genomic and clinical data sets, development of data visualization tools, and data management.         Erin Ramos, an Epidemiologist with the Office of Population Genomics at NHGRI, is the Project Scientist for the PhenX project. Before joining NHGRI, Dr. Ramos focused her research in the genetic epidemiology of Alzheimer's disease and dementia and explored the ethical, social, and policy implications of genomics research.




The PhenX SC held its first meeting in Washington, DC, January 17-18. The SC chair is Jonathan Haines; vice-chair is Bill Harlan. Eleven members of the SC attended, along with 17 liaisons from various NIH Institutes and Centers (ICs). Discussions during the two-day meeting were primarily focused on creating a preliminary list of domains that will be the basis for organizing the Working Groups (WGs). Input from the SC and the IC liaisons resulted in the creation of a list of domains along with a list of cross-cutting considerations that will be given to the WGs. The first two domains to be addressed by WGs are: Demographics/Socioeconomic Status and Anthropometrics. The criteria that guided the domain selection was: whether a domain was definable, was of significant research and public health interest, was broadly applicable as an outcome, covariate or both, whether standard measures would be accepted by the relevant research community, and expertise.


To facilitate a common WG consensus process, the SC developed a list of initial guidelines to be communicated to each WG. Some key points in this guidance: A member of the SC will serve as a liaison to each WG; the WGs will be composed of six to eight domain-related experts; and, information will be shared with each WG to make them cognizant of the work of predecessor WGs, and the activity of other WGs currently underway. WG discussions will result in a set of measures that will then be vetted with the scientific community through a web-based survey. Subsequently, the WGs will review survey input and develop a list of up to fifteen domain-specific measures. Ultimately, the PhenX Toolkit will include these measures, protocols for obtaining the measures and additional supporting documentation.


The SC met on March 18th by conference call, and will meet again in person on June 4th.


Steering Committee Members


Within each newsletter, we will highlight two of the SC members. In this inaugural newsletter, we profile Jonathan Haines, Chair of the PhenX project, and William R. Harlan, Vice Chair of the PhenX project.


Jonathan Haines, PhD, Chair     Vanderbilt University, Center for Human Genetics Research
Dr. Haines' work includes localization and identification of genes involved in common and genetically complex human disease, with a primary focus on neurological and eye disease, including studies of Alzheimer's Disease, multiple sclerosis, autism, amyotrophic lateral sclerosis, age-related macular degeneration, and adult-onset glaucoma.

William R. Harlan, MD, Vice Chair     National Library of Medicine Consultant
Dr. Harlan is currently a consultant with the National Library of Medicine's He advises on clinical study registration and results reporting. For 35 years he was professor of medicine at VCU, Duke, UAB, and University of Michigan. He then retired and went to the National Heart, Lung and Blood Institute (NHLBI) to work on a research portfolio of clinical trials and observational studies. He also served as the Associate Director for Disease Prevention at the NIH.

Terri H. Beaty, PhD     Johns Hopkins School of Public Health
Lindsay A. Farrer, PhD     Boston University
Peter Kraft, PhD     Harvard School of Public Health
Mary L. Marazita, PhD     University of Pittsburgh, Center for Craniofacial and Dental Genetics
Jose M. Ordovas, PhD     Tufts University, Human Nutrition Research Center on Aging
Erin Ramos, PhD, MPH     National Human Genome Research Institute
Margaret R. Spitz, MD, MPH     University of Texas, MD Anderson Cancer Center
Patrick Sullivan, MD, FRANZCP     University of North Carolina at Chapel Hill
Diane Wagener, PhD     RTI International
Michelle Williams, ScD     University of Washington


Research Team Members


Carol M. Hamilton, PhD     PhenX Principal Investigator, RTI International
Diane Wagener, PhD     PhenX co-Investigator, RTI International
Richard Kwok, PhD     PhenX Investigator, RTI International
Deborah Maiese, MPA     Consensus Coordinator, RTI International
Joe Pratt, MPM     PhenX Project Manager, RTI International
Erin Ramos, PhD, MPH     Project Scientist, NHGRI
Teri Manolio, MD, PhD     Director, Office of Population Genomics;
  Senior Advisor to the Director, NHGRI, for Population Genomics
Heather Junkins, MS     Scientific Program Analyst, NHGRI




The first two WGs were initiated on March 11, 2008. They are the Demographics/Socioeconomic Status WG and the Anthropometrics WG. More about these WGs in the next Newsletter.


Upcoming Meetings


Steering Committee June 4, 2008  
Working Groups April 9, 2008 Demographics/Socioeconomic Status WG - in-person meeting
  May 2, 2008 Anthropometrics WG - in-person meeting


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