PhenX Measures for Sickle Cell Disease (SCD) Research

In 2014, the National Heart, Lung, and Blood Institute (NHLBI) funded an administrative supplement to the PhenX project to select high-quality standard measures related to sickle cell disease (SCD) for inclusion in the PhenX (consensus measures for Phentypes and eXposures) Toolkit (www.phenxtoolkit.org). The goal of the PhenX Measures for Sickle Cell Disease Research project is to establish a framework for data sharing across different SCD 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 SCD.

The PhenX Measures for Sickle Cell Disease Research project includes the Sickle Cell Disease Research and Scientific Panel (SRSP), which provided overall guidance to the project, and two Working Groups (WGs), each of which focused on specific aspects of SCD. The first WG identified measures that are relevant to Cardiovascular, Pulmonary, and Renal complications of SCD. The second WG identified SCD measures relevant to Neurology, Quality of Life, and Health Services.

Sickle Cell Disease Research and Scientific Panel (SRSP)

The Sickle Cell Disease Research and Scientific Panel (SRSP), composed of ten scientists and co-chaired by Dr. James R. Eckman and Dr. Kathryn L. Hassell, provided the overall direction and guidance to the PhenX Measures for the Sickle Cell Disease Research Project. The members of the SRSP are:

  • James R. Eckman, M.D, (Co-Chair), Emory University
  • Kathryn Hassell, MD, (Co-Chair), University of Colorado Denver
  • Jon A. Detterich, MD, Children's Hospital Los Angeles
  • Jeffrey Glassberg, MD, Mount Sinai Hospital
  • Allison A. King, MD, MPH, Washington University
  • Zora Rogers, MD, University of Texas, Southwestern
  • Kim Smith-Whitley, MD, Children's Hospital of Philadelphia
  • John J. Strouse, MD, PhD, Johns Hopkins University
  • James Taylor, MD, National Heart, Lung, and Blood Institute
  • Marilyn Telen, MD, Duke University
  • Ellen M. Werner, PhD, MA, National Heart, Lung, and Blood Institute

The roles of the SRSP were to:

  • Create a "Core" Collection of measures for use by all SCD researchers
  • Define the scope of the Cardiovascular, Renal, and Pulmonary and the Neurology, Quality of Life, and Health Services Specialty areas
  • Help identify 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)

Two SCD WGs (WG 1: Cardiovascular, Pulmonary, and Renal, WG 2: Neurology, Quality of Life, and Health Services) composed of seven scientists with relevant expertise were assembled to select up to 8 measures for each of two Specialty Collections. The WGs identified and recommend measures for the Toolkit using a consensus process which included input from the scientific community. Each WG was led by a chair or co-chairs, included non-voting members from NHLBI, National Human Genome Research Institute, National Institute of Neurological Disorders and Stroke, Centers for Disease Control and Prevention, National Institute of Diabetes and Digestive and Kidney Diseases, Health Resources & Services Administration, National Institute of Child Health and Human Development, National Institute of Arthritis and Musculoskeletal and Skin Diseases, and was supported by a PhenX WG supervisor and manager. The tasks of both WGs were 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 10 preliminary measures to share with the research community and get feedback (community outreach)
  • Suggest groups in the research community for the community outreach efforts
  • 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
Additionally, each WG will use a consensus process to identify and recommend measures and will be supported by an RTI International WG supervisor and manager.

Criteria for Selecting Measures

Both WGs selected measures for the PhenX Toolkit using criteria recommended by the PhenX SC. The criteria for selecting PhenX measures include that 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
Deborah Maiese, MPA
Consensus Coordinator
Tracey Grant, MS
WG Manager
Amanda Riley, PMP, BSBA
Project Manager
National Human Genome Research Institute (NHGRI)
Erin Ramos, PhD, MPH
PhenX Project Scientist
Brenda Iglesias, BA
PhenX Scientific Program Analyst
National Heart, Lung, and Blood Institute (NHLBI)
Ellen Werner, PhD, MA
Program Director, Blood Diseases Branch