PhenX Measures for Hemophilia Inhibitor Research

In 2018, the National Heart, Lung, and Blood Institute (NHLBI) funded an administrative supplement to the PhenX project to select high-quality standard measures related to hemophilia inhibitors for inclusion in the PhenX (consensus measures for Phenotypes and eXposures) Toolkit (www.phenxtoolkit.org). The PhenX Toolkit, which was initiated in 2007 by the National Human Genome Research Institute (NHGRI), provides investigators with access to well-established, low-burden, standard measures to incorporate into new or existing biomedical studies. The goal of the Toolkit is to encourage use of common measures to help researchers effectively collaborate and share data.

The goal of the PhenX Measures for Hemophilia Inhibitor Research project is to establish a framework for data sharing across different hemophilia research projects. Consistent use of the standard measures from this project will establish a common currency to help researchers to better understand the etiology, progression, and treatment of hemophilia.

Hemophilia Inhibitor Research Working Group

The Hemophilia Inhibitor Research Working Group is composed of five scientists and co-chaired by Dr. Barbara Konkle and Dr. Steven Pipe. The members of the WG are:

• Barbara Konkle, MD, (Co-Chair), Bloodworks Northwest
• Steven Pipe, MD, (Co-Chair), University of Michigan
• Michael Soucie, PhD, Centers for Disease Control and Prevention
• Tyler Buckner, MD, University of Colorado
• Crystal Watson, BSW, American Thrombosis & Hemostasis Network
• Diane Nugent, MD, Children's Hospital of Orange County, CA

Working Group Roles

The roles of the Hemophilia Inhibitor Research WG are to:

• Review well-established scientific measures
• Propose appropriate groups in the research community that could provide feedback on potential measures
• Assess feedback from the community outreach process and identify high-priority measures for inclusion in the Toolkit
• Select measures for inclusion in the Toolkit (subject to approval by the PhenX Steering Committee (SC)
• Recommend individual protocols for collecting and recording PhenX measures

Review Existing Measures

• Identify measures and protocols currently in use in the field
• Examine hemophilia-related measures in the PhenX Toolkit to ensure that new measures complement existing Toolkit content
• Assess diversity of methods used for measures and applicability to a range of study designs

Select Measures

• Use the criteria established for all PhenX WGs to select the measures and protocols
• Select up to 18 priority measures for community outreach for each WG
• Describe preferred data collection methods for each measure
• Finalize up to 15 measures and protocols to include in the PhenX Toolkit

Communication

• Identify colleagues and individuals in the research community to review and comment on selected measures via outreach
• Work with RTI and National Institutes of Health staff to evaluate input from the scientific community on selected measures and measurement protocols
• Identify scientific journals and professional meetings or conferences to present and promote use of PhenX measures

Criteria for Selecting Measures

A number of criteria have been suggested by the PhenX Steering Committee to guide the selection of the measures to be included in the PhenX Toolkit. The criteria for selecting PhenX measures are the following:

• Clearly defined
• Well-established
• Broadly applicable and generally accepted
• Low burden to participants and investigators
• Have demonstrated utility
• Reproducible
• Specific
• Reliable
• Standard measurement protocols exist

Additional criteria for selecting PhenX measures include the following:

• Crosscutting relevance for population groups as well as diseases and conditions
• Use in major reference study (e.g., the National Health and Nutrition Examination Survey)
• Open-source software and nonproprietary instruments preferred
• Brevity
• Expectation of acceptance by the research community

Time Commitment

All WG members are required to:

• Attend one in-person WG meeting in the Washington, DC, metropolitan area
• Participate in WG conference calls

PhenX Measures for Hemophilia Inhibitor Research Senior Management Team

RTI International
Carol M. Hamilton, PhD Principal Investigator	Wayne Huggins, PhD WG Supervisor
Tabitha Hendershot, BA Co-Investigator	Deborah Maiese, MPA Consensus Coordinator
Lauren Gridley, MS WG Manager	Amanda Riley, PMP, BSBA Project Manager
National Human Genome Research Institute (NHGRI)
Erin Ramos, PhD, MPH PhenX Project Scientist	Natalie Pino Scientific Program Analyst
National Heart, Lung, and Blood Institute (NHLBI)
Donna DiMichele, MD National Heart, Lung, and Blood Institute	Ellen Werner, PhD, MA Program Director, Blood Diseases Branch