September 2, 2008

PhenX Newsletter - Information and Updates Issue 5. September 2, 2008


Call for Survey Response on Anthropometric Measures


PhenX scientists are currently seeking input on the proposed anthropometric measures from the research community. Feedback is being gathered via a web-based survey. The initial comment period for this survey on anthropometric measures began on August 11 and may be accessed at until September 8. RTI International is actively seeking comments on measuring height, weight, estimated visceral fat, and other anthropometric measures. We would like your feedback on the proposed measures and the protocols. We welcome your suggestions for additional measures or alternative protocols. In the second half of the survey, we ask for you to prioritize measures that should be included in the Toolkit. Your expertise and insight will be extremely valuable to developing consensus on a set of measures for this important cross-cutting domain.

These measures are being proposed by the PhenX Anthropometrics Working Group chaired by Michele Forman, with representatives from academia and government. Your input will help the PhenX Working Group prioritize the 15 core measures.




Updates from the Demographics Working Group


The PhenX project's first survey on demographics measures ran for a 4-week comment period and the responses that were received through August 4 were analyzed. The survey remains active for public comment, with additional responses being harvested for the PhenX Steering Committee on a quarterly basis. During the comment period, 88 respondents provided some input on specific measures and protocols. A total of 76 respondents voted on which measures should be in the final list. In addition, a total of 77 respondents provided their background information, and 26 percent of those respondents reported that they had worked on a GWA. Responses were received from various disciplines including geneticists, epidemiologists, and demographers.

Using this survey response as guidance, the Demographics Working Group (WG) has been busy preparing their final recommendations to the Steering Committee for inclusion in the Toolkit. The WG reviewed the responses from the web-based survey and, with this input, narrowed down the list of proposed measures to 15 recommended measures. The current list stands at:

    Current Age     Annual Household Income  
    Birthplace     Current Employment Status  
    Ethnicity     Years Lived in the U.S.  
    Race     Household Roster - Relationships  
    Self-reported Gender     Health Insurance Coverage  
    Current Address     Parents' Birthplace  
    Current Educational Attainment     Grandparents' Birthplace  
    Current Marital Status        

The Demographics WG will provide guidance and feedback in ensuring that the PhenX Toolkit will be functional and useful for researchers as they select measures for their studies.


Next Steps from the Alcohol, Tobacco, and Other Substances Working Group


The Alcohol, Tobacco, and Other Substances Working Group (WG) held its third meeting (a follow-up call to their in-person meeting) on August 26, 2008. The eight-member WG is chaired by Dr. Deborah Hasin, an epidemiologist at Columbia University and Dr. Erin Ramos, from NHGRI, is serving as the Steering Committee Liaison. During their meeting, the WG discussed measures of frequency, quantity, age of first use, and dependency. They will continue to select measures in September and plan to release their web-based survey in October.


Establishing a Cardiovascular Working Group


The Cardiovascular (CV) Working Group (WG) is being currently formed. The chair will be Dr. Thomas Pearson of the University of Rochester Medical Center and the Steering Committee liaison will be Dr. William Harlan. At its first conference call this fall, the WG will be discussing the framework for measures which includes personal history, risk factors, treatments, and procedures. The WG's first in-person meeting will take place on November 24.


Featuring Steering Committee Members


In each newsletter, we will highlight two members of the Steering Committee (SC). Here, we present Drs. Beaty and Marazita.


Terri H. Beaty, PhD. Professor in the Epidemiology Department at Johns Hopkins University School of Public Health.

Dr. Beaty's work falls primarily in the field of genetic epidemiology and is focused on how environmental factors and genes jointly control disease etiology. She has worked on many diseases such as pulmonary diseases, diabetes, cardiovascular diseases and cancer, but she has a long-standing interest in birth defects, like cleft lip and cleft palate. She also has research experience in methods to detect genes which control the risk of and response to infectious and parasitic diseases.


Mary L. Marazita, PhD, FACMG. Associate Dean for Research, Director of the Center for Craniofacial and Dental Genetics, Professor and Chair of Oral Biology (all School of Dental Medicine), Professor of Human Genetics (Graduate School of Public Health), and Professor of Psychiatry (School of Medicine), at the University of Pittsburgh.

Dr. Marazita's research focuses on the genetics of birth defects (primarily oral-facial clefts and other craniofacial anomalies) of oral health, and of other complex phenotypes such as preterm birth. A major focus is on sub-clinical phenotypic characterization of individuals in oral-facial cleft families. Other research interests include statistical genetic methods, psychiatric/behavioral genetics, and oral health disparities.


Steering Committee Members


Jonathan Haines, PhD, Chair     Vanderbilt University, Center for Human Genetics Research
William R. Harlan, MD, Vice Chair     National Library of Medicine Consultant
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
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 initial comment period of the Demographics Survey closed on August 4, 2008
  • The Anthropometrics Survey launched August 11, 2008 more...
  • The Steering Committee held a Conference Call on August 7, 2008
  • The Demographics Working Group held a conference call on August 18, 2008
  • The ATOS Working Group held a conference call on August 26, 2008
  • The Anthropometrics Working Group will hold a conference call on September 15, 2008


Upcoming In-Person Meetings


Steering Committee in-person meeting September 22-23, 2008
Cardiovascular Working Group in-person meeting November 24, 2008


Link to Previous PhenX Newsletters




The project PhenX, for Phenotypes and eXposures, is funded by National Institutes of Health's, National Human Genome Research Institute. The goal of the project is to select 15 measures for up to 20 research domains that will be recommended for use in genome-wide association studies (GWAS) and other large-scale genomic studies. The active input from researchers is critically important for this consensus effort. We are seeking input from the research community through web-based surveys.


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