October 12, 2017

PhenX Newsletter - Information and Updates Issue 28. October 13, 2017


PhenX Toolkit to be Expanded to Further Support the Biomedical Community


As part of a new five-year award from the National Human Genome Research Institute, RTI International will expand the PhenX Toolkit, a web-based catalog of standard measures for use in collaborative research. The Toolkit provides well-established measures and the tools to use the measures in a variety of studies of human health and disease. With co-funding from the National Institute on Drug Abuse and the Office of Behavioral and Social Sciences Research, the grant supports enhancing the Toolkit's accessibility and navigation, developing new features, and expanding content to meet the evolving needs of the research community.

"This award gives the PhenX team the opportunity to extend collaborations and create new capabilities that will reduce barriers to translational research, thus reducing the time from bench to bedside," said Carol M. Hamilton, PhD, director of bioinformatics at RTI and PhenX principal investigator. "The use of PhenX measures increases the opportunities for researchers to combine or compare their findings, thus accelerating the development of treatments and interventions for human diseases and conditions."

See the full story at RTI.org.


Help Us Improve Toolkit Navigation


Share your ideas on the new PhenX Toolkit navigation design: we are recruiting people to participate in a 1-hour webinar in November to get feedback on the new design. We hope to have different types of users (e.g., investigators and data scientists) to inform the design effort. Goals include making finding protocols easier with fewer clicks and improving usability and responsiveness to all types of devices.

If interested, please fill out this signup sheet (less than 2 minutes). We will contact you if you are selected to participate. Your participation will provide critical information to ensure that the Toolkit's new design meets your research and project needs.


PhenX Toolkit at the American Society of Human Genetics Conference

Celebrating our 10th year, the PhenX team will be at the American Society of Human Genetics 2017 annual meeting October 17-21 in Orlando, FL.

  • Mike Phillips will present a poster, "The PhenX Toolkit: Adding a resource for geriatric research" (No. 2205F), at 11:30 a.m. Friday, October 20.
  • Members of our team will be at the PhenX Toolkit booth, No. 759 in the exhibit hall.
  • We will be recruiting people to participate in focus groups for our redesign effort.

We hope to see you there!



PhenX Measures for Hemophilia Research

Ellen Werner, PhD


Having successfully completed the PhenX Measures for Sickle Cell Disease Research project, the National Heart, Lung, and Blood Institute (NHLBI) funded a supplement in September 2017.

The new project will use the PhenX consensus process to select a core and specialty collection of measures to support hemophilia research and make them available to the scientific community via the PhenX Toolkit.

The NHLBI Project Scientist is Dr. Ellen Werner. Consistent use of the standard measures from this project will establish a common currency to help researchers better understand the etiology, progression, and treatment of hemophilia.


PhenX Steering Committee Holds Web-Conference - August 18, 2017


The PhenX Steering Committee (SC) met via web conference in August. The SC heard reports about the Geriatrics Working Group (WG) and Expert Review Panels (ERPs) updates to the Alcohol, Tobacco and Other Substances, Psychiatric, Neurology, Psychosocial and Respiratory domains and the Substance Abuse and Addiction supplement in the Toolkit.

The PhenX Team provided a preview of changes to the navigation and features proposed for the upcoming new design of the Toolkit. The SC provided feedback on the design ideas and suggested next steps. The SC also provided guidance on the ERP community outreach process.


PhenX on the Move

Erin Ramos, PhD


Dr. Erin Ramos presented "Community Tools for Data Harmonization for Powerful Gene-environment Interaction Studies" at the Institute for Computational Biology at Case Western University in Cleveland, OH, on September 28, 2017.

Dr. Carol Hamilton presented "The PhenX Toolkit: Standard Measures for Collaborative Research," a webinar for the Integrated Risk Information System (IRIS) Division of the Environmental Protection Agency on September 13, 2017.

Dr. Huaqin Pan presented "PhenX and dbGaP: Tools for TOPMed and Genomics Research" at the National Institutes of Health (NIH) annual Sickle Cell Disease Clinical Research Meetings in Bethesda, MD, on August 15, 2017.

Dr. Hamilton presented "The PhenX Toolkit: A Catalog of Measures and Bioinformatics for Collaborative Research" at the dbGaP 10th Anniversary Symposium in Bethesda, MD, on June 9, 2017.

Dr. Pan presented "Linking Data in dbGaP Using PhenX Measures," a webinar for the BioCADDIE Workshop on May 9, 2017.

Dr. Pan presented "PhenX in REDCap and dbGaP: Standard Measures and Bioinformatics for Collaborative Research" at Translational Science 2017 in Washington, DC, April 19-21, 2017.

Dr. Hamilton presented "The PhenX Toolkit: Standard Measures for Collaborative Research," a webinar for the Environmental influences on Child Health Outcomes (ECHO) Chemical Exposures Working Group on April 10, 2017.


Explore the PhenX Toolkit


Top Domains and Top Measures


The Top 5 Domains and Top 5 Measures as of September 2017 are listed below. The top domains and measures are listed on the Toolkit Use Statistics Page and are recalculated and updated with each new release.


Top 5 Domains in the PhenX Toolkit Top 5 Measures in the PhenX Toolkit
1. Demographics 1. Current Age
2. Anthropometrics 2. Gender
3. Alcohol, Tobacco and Other Substances 3. Ethnicity
4. Environmental Exposures 4. Race
5. Cardiovascular 5. Cigarette Smoking Status


Geriatrics Working Group Chair

Mary Sano, PhD

Dr. Sano is a Professor of Psychiatry and the director of the Alzheimer's Disease Research Center at the Icahn School of Medicine at Mount Sinai in New York City. She is also the director of Research and Development at the James J. Peters Veterans Administration Hospital. Dr. Sano is a neuropsychologist by training and has been involved in designing and conducting clinical trials for the treatment and prevention of Alzheimer's Disease, mild cognitive impairment, and other conditions of aging. As a founding member of the Alzheimer's Disease Cooperative Study, she directed the first multicenter trial demonstrating the effects of vitamin E in delaying the clinical progression of Alzheimer's disease. This work was replicated in the 2014 JAMA clinical trial report of vitamin E in a multi-center trial of veterans. She has been a leader in dementia prevention trials examining the effects of estrogens, statins, and nutraceuticals. She is globally recognized, as evidenced by her current position as president-elect of the International Psychogeriatric Association and a member of the Medical and Scientific Advisory Committee of the Alzheimer Association. She is also the recipient of the Lifetime Achievement Award of the Clinical Trials in Alzheimer's Disease.


Research Team Members



RTI International National Human Genome Research Institute
Carol M. Hamilton, PhD Principal Investigator Erin Ramos, PhD, MPH Project Scientist
Tabitha Hendershot Co-Investigator Teri Manolio, MD, PhD Director, Division of Genomic Medicine
Amanda Riley, PMP Project Manager Margaret Ginoza Scientific Program Analyst
Deborah Maiese, MPA Consensus Coordinator National Institute of Mental Health
Wayne Huggins, PhD Investigator Greg Farber, PhD Project Scientist
Michael Phillips, MS Investigator National Heart, Lung and Blood Institute
Lisa Kilpatrick, MS Investigator Ellen Werner, PhD Project Scientist
Helen Pan, PhD Toolkit Lead National Institute of Drug Abuse
Stephen Hwang, MS Toolkit Lead Kevin Conway, PhD Project Scientist
Pat West Communications Lead Tobacco Regulatory Research Program
    Kay Wanke, PhD Project Scientist

Previous PhenX Newsletters         Phenx Steering Committee


PhenX is supported by Genomic Resource Grant for the PhenX Toolkit's Expansion and Sustainability (2U41HG007050-05) funded by the National Institutes of Health's (NIH's) National Human Genome Research Institute (NHGRI), with co-funding by the National Institute on Drug Abuse (NIDA) and the Office of Behavioral and Social Sciences Research (OBSSR). Supplemental funding (3U41HG007050-02S4) is provided by the National Heart, Lung, and Blood Institute (NHLBI).