Sickle Cell Disease

PhenX Measures for Sickle Cell Disease (SCD) Research

Overview

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

Sickle Cell Disease Research and Scientific Panel (SRSP)

The Sickle Cell Disease Research and Scientific Panel (SRSP) provides the overall direction and guidance to the PhenX Measures for the Sickle Cell Disease Research Project. Co-chaired by Drs. James Eckman and Kathryn Hassell, the SRSP consists of nine SCD researchers from various academic and government institutions. The SRSP members are the following:

• James R. Eckman, M.D, (Co-Chair), Emory University School of Medicine
• Kathryn Hassell, MD, (Co-Chair), University of Colorado, Denver
• Kenneth Ataga, MD, University of North Carolina at Chapel Hill
• Zora Rogers, MD, University of Texas, Southwestern
• Kim Smith-Whitley, MD, Children’s Hospital of Philadelphia
• Jon A. Detterich, MD, Children’s Hospital Los Angeles
• Marilyn Telen, MD, Duke University School of Medicine
• Jeffrey Glassberg, MD, Mount Sinai Hospital, New York
• J. J. Strouse, MD, PhD, Johns Hopkins University

 The roles of the SRSP are to:

• Define the scope to be addressed by the SCD WGs
• Help identify individuals to serve as members of the WGs
• Identify a Research Panel member to serve as SRSP liaison to each SCD WG
• Identify a Core set of measures for use by all SCD researchers

 Sickle Cell Disease Working Groups (WGs) There will be two SCD WGs: one will focus on Cardiovascular, Pulmonary, and Renal measures (i.e., WG 1); the other will focus on Neurology, Quality of Life, and Health Services measures (i.e., WG 2).

Each of the SCD WGs will:

• Consist of from six to eight scientists with relevant expertise and will be from a variety of universities/organizations
• Include a Chair (and possibly a Co-Chair) and an SRSP liaison
• Review and annotate (when applicable) current PhenX Toolkit measures to address the needs of the SCD research community
• Identify both pediatric and adult SCD measures (with transition, where appropriate)
• Submit up to 18 measures for community outreach
• Submit up to 15 measures for inclusion into the PhenX Toolkit (including 1–2 high-burden measures), which complement measures that are already included

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.  

The Roles of the WGs

• 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 SRSP and the 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 SCD-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 SC 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 SRSP Senior Management Team

RTI International

National Human Genome Research Institute (NHGRI)