July 31, 2008

PhenX Newsletter - Information and Updates
Issue 4. July 31, 2008

About PhenX

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 a web-based survey. The newest survey, Anthropometrics, launches on August 11 and can be accessed at www.phenx.org/surveys. Your expertise and insight will be extremely valuable while developing an effective consensus process.

Highlights

Alcohol, Tobacco and Other Substances (ATOS)

The Alcohol, Tobacco, and Other Substances Working Group (WG) is composed of eight-members and is chaired by Dr. Deborah Hasin, an epidemiologist at Columbia University. Other WG members include academic and government researchers and scientists. The WG held their first conference call on June 12, 2008, and their in-person meeting on July 14, 2008, in Washington, DC. They will continue their discussions with a follow-up call in August.

During their deliberations at the in-person meeting, the WG examined various substance measures found in the database of Genotype and Phenotype (dbGaP; e.g., GAIN: Whole Genome Association Study of Bipolar Disorder), and survey instruments utilized by substance use and genetics studies (e.g., AUDADIS and the Fagerstrom questionnaire).

A PhenX Survey presenting the proposed ATOS measures is expected to launch in October.

Steering Committee

On June 4, the PhenX Steering Committee held its second in-person meeting in Washington DC. Eleven members of the SC attended, along with nine liaisons from NIH Institutes and Centers (ICs). Discussions during the one-day meeting focused on the two active Working Groups: Demographics and Anthropometrics. In the Demographics domain, the SC suggested that the WG focus on basic measures that are the most useful to genome-wide association studies (GWAS). The SC provided guidance to the Anthropometrics WG about the scope of the domain and on specific measures.

The SC provided some general guidance to the WGs, based on lessons learned. The guidance included that domain protocols need to be independent of one another and be able to stand alone; different protocols and modes of administration count as one measure; measures and protocols should be reviewed using a "what" and "how" scenario, with the "what" being the measure and the "how" being the protocol used to capture the measure; and that the SC liaison is a non-voting member.

The SC discussed possible domains for future inclusion, and agreed upon the next five domains. An SC liaison was assigned to each. In addition to Alcohol, Tobacco, and Other Substances (ATOS) WG, which is already underway, the next five domains and the SC liaison to each are as follows:

Diet - Jose Ordovas
Cardiovascular - Bill Harlan
Cancer - Margaret Spitz
Exposures - Diane Wagener
Diabetes - Bill Harlan

Featuring Steering Committee Members

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

Jose Ordovas, PhD. Senior Scientist and Director of the Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University.

Dr. Ordovas' major research interests focus on the genetic factors predisposing to cardiovascular disease and their interaction with the environment and behavioral factors with special emphasis on diet. He has published over 450 scientific articles in peer review journals and written numerous reviews and books on topics surrounding diet and coronary heart disease, diet and genetics, and the pathophysiology of arteriosclerosis. Frequently he participates as an invited speaker in international congresses, courses, and symposiums around the world. He serves on several editorial boards, is a frequent reviewer of many leading journals, and is an active member of NIH and AHA peer review committees. Throughout his career, Dr. Ordovas has contributed his expertise to various global organizations and has received many honors for his scientific achievements including the USDA Secretary's Award and other awards from the American Society for Nutrition and the American Association for Clinical Chemistry. He serves on the scientific advisory boards of biotechnology and nutrigenomic companies. He is also a member of the Institute of Medicine's Food and Nutrition Board.

Margaret Spitz, M.D. Professor of Epidemiology and Chair of the Department of Epidemiology at the University of Texas M. D. Anderson Cancer Center. She holds the Olga Keith Wiess Distinguished University Chair for Cancer Research.

Dr. Spitz has earned several honors in the field of cancer epidemiologic research including the 2002 Award for Research Excellence in Epidemiology or Prevention from the American Association of Cancer Research and the American Cancer Society, the Rosalind Franklin Science Award for Women in Science from the National Cancer Institute in 2003, the Dr. William Cahan Distinguished Professor Award from the Flight Attendants Medical Research Institute in 2004, and in 2006, the 13th annual Hadassah Horn Memorial Lectureship at the Weizmann Institute, Israel. She serves on several external scientific advisory boards of major cancer centers. Dr. Spitz was co-chair of NCI's Lung Cancer Progress Review Group, and she has served on NCI's Board of Scientific Advisors.

Her research interest is in studying genetic markers of susceptibility to tobacco-related cancers with the long-term goals of identifying high-risk subgroups who can benefit from intensive cancer screening and chemopreventive interventions. Her group is well positioned to develop risk-assessment models for lung cancer. Active collaborations have been established with other Lung SPORE programs and the International Lung Cancer Consortium. She is also constructing genetic profiles for use in individualizing therapy and understanding the functional consequences of chemoprevention, chemotherapy or radiotherapy response.

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
More...

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

Announcements

The Demographics Survey was launched on July 7, 2008 and concludes on August 4, 2008
The Cardiovascular (CVD) Working Group will hold its Introductory Call on August 1, 2008
The Steering Committee will hold a Conference Call on August 7, 2008
The Anthropometrics Survey will launch August 11, 2008
The Demographics Working group will hold a conference call on August 18, 2008