Expansion of PhenX Measures for Sickle Cell Disease (SCD) Research
In 2019, the National Heart, Lung, and Blood Institute (NHLBI) provided co-funding to expand the collections of sickle cell disease (SCD) measures in the PhenX (consensus measures for Phenotypes and eXposures) Toolkit (www.phenxtoolkit.org). The goal of the Expansion of PhenX Sickle Cell Disease Measures project is to extend the framework for sharing data across different SCD research projects established by the PhenX Measures for Sickle Cell Disease Research Project (2015). Consistent use of the standard measures from the PhenX Toolkit will establish a common currency to help researchers to better understand the etiology, progression, and treatment of SCD.
The Expansion of PhenX Sickle Cell Disease (SCD) Measures project includes the Sickle Cell Disease Research and Scientific Panel (SRSP), which provides overall guidance to the project, and six Working Groups (WGs), each of which focuses on specific aspects of SCD.
The SRSP identified six WGs:
- Curative Therapies
- Pain
- Bone and Joint
- Psychosocial and Social Determinants of Health
- Genitourinary
- Pregnancy
Sickle Cell Disease Research and Scientific Panel (SRSP)
The Sickle Cell Disease Research and Scientific Panel (SRSP), composed of five scientists and co-chaired by Dr. James R. Eckman and Dr. John J Strouse, provides the overall direction and guidance to the Expansion of PhenX Sickle Cell Disease (SCD) Measures project. The roles of the SRSP are to:
- Update the "Core" Collection of measures for use by all SCD researchers
- Define the scope for the six WGs
- Help identity individuals to serve as members of the WGs
- Identify an SRSP member to serve as liaison to each SCD WG
Sickle Cell Disease Working Groups (WGs)
The Expansion of PhenX Sickle Cell Disease (SCD) Measures project has six WGs (WG1: Curative Therapies, WG2: Pain, WG3: Bone and Joint, WG4: Psychosocial and Social Determinants of Health, WG5: Genitourinary, WG6: Skin), composed of scientists with relevant expertise, will select up to 10 measures for inclusion in the PhenX Toolkit. The WGs identifies and recommends measures for the Toolkit using a consensus process which includes input from the scientific community. Each WG is led by a chair or co-chairs and is supported by a PhenX WG supervisor and manager.
The tasks of the WGs are to:
- Identify and review well-established measures and instruments currently in use in the field
- Examine SCD - related measures in the PhenX Toolkit to ensure that new measures complement existing Toolkit content
- Select up to 12 preliminary measures to share with the research community and get feedback (community outreach)
- Suggest members of the research community to receive community outreach
- Consider feedback from community outreach when deciding the high-priority SCD measures to be included in the Toolkit
- Present recommended measures to the SRSP and the PhenX Steering Committee (SC) for approval
Criteria for Selecting Measures
WGs select measures for the PhenX Toolkit using criteria recommended by the PhenX SC. The criteria include that PhenX measures are:
- Clearly defined
- Well established and have demonstrated utility
- Broadly applicable and generally accepted
- Low burden to participants and investigators
- Reproducible
- Specific
- Reliable
- Available and have existing standard measurement protocols
Additional criteria for selecting PhenX measures include:
- Crosscutting relevance across 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
PhenX Measures for Sickle Cell Disease Senior Management Team
| RTI International | |
|---|---|
| Carol M. Hamilton, PhD Principal Investigator |
Wayne Huggins, PhD SRSP Coordinator and WG Supervisor |
| Tabitha Hendershot, BA Co-Investigator |
Deborah Maiese, MPA Consensus Coordinator |
| Lauren Gridley, MS WG Manager |
Cindy Changar Project Manager |
| National Human Genome Research Institute (NHGRI) | |
| Jyoti Dayal, MS PhenX Project Scientist |
Madison Goldrich, BS PhenX Scientific Program Analyst |
| National Heart, Lung, and Blood Institute (NHLBI) | |
| William P. Tonkins Jr, DrPH Expansion of PhenX SCD Measures Project Scientist |
|