Sickle cell disease (SCD) is a genetic condition that affects approximately 100,000 people in the United States and millions more globally. Individuals with SCD endure the psychological and physiological toll of repetitive pain as well as side effects from the pain treatments they undergo. Some adults with SCD report reluctance to use health care services, unless as a last resort, due to the racism and discrimination they face in the health care system. Additionally, many aspects of SCD are inadequately studied, understood, and addressed. Addressing Sickle Cell Disease examines the epidemiology, health outcomes, genetic implications, and societal factors associated with SCD and sickle cell trait (SCT). This report explores the current guidelines and best practices for the care of patients with SCD and recommends priorities for programs, policies, and research. It also discusses limitations and opportunities for developing national SCD patient registries and surveillance systems, barriers in the healthcare sector associated with SCD and SCT, and the role of patient advocacy and community engagement groups.

Contents

• The National Academies of SCIENCES • ENGINEERING • MEDICINE
• COMMITTEE ON ADDRESSING SICKLE CELL DISEASE: A STRATEGIC PLAN AND BLUEPRINT FOR ACTION
• Reviewers
• Acknowledgments
• Preface
• Acronyms and Abbreviations
• Summary
  • SCOPE OF WORK
  • RECOMMENDATIONS
• 1. Introduction
  • SCOPE OF WORK
  • STUDY PROCESS AND INFORMATION GATHERING
  • OVERVIEW OF SCD AND SCT
  • THE SICKLE CELL PATIENT AND THE HEALTH CARE SYSTEM
  • POLICY MAKING AND FUNDING FOR SCD
  • KEY SCD ACTORS
  • ORGANIZATION OF THE REPORT
  • REFERENCES
• 2. Societal and Structural Contributors to Disease Impact
  • INTRODUCTION
  • SOCIETAL FACTORS
  • INDIVIDUAL FACTORS
  • ENVIRONMENTAL FACTORS
  • THE BURDEN OF SCD
  • CONCLUSIONS AND RECOMMENDATIONS
  • REFERENCES
• 3. Screening, Registries, and Surveillance
  • SCREENING FOR SCD AND SCT
  • COMMUNICATING SCREENING RESULTS
  • THE USE OF SCREENING DATA
  • PATIENT REGISTRIES
  • PUBLIC HEALTH SURVEILLANCE
  • ETHICAL IMPLICATIONS AND PRIVACY CONSIDERATIONS
  • CONCLUSIONS AND RECOMMENDATIONS
  • REFERENCES
• 4. Complications of Sickle Cell Disease and Current Management Approaches
  • INTRODUCTION
  • PAIN IN SCD
  • OVERVIEW OF SCD COMPLICATIONS
  • MANAGEMENT OF SCD
  • SCT
  • CONCLUSIONS AND RECOMMENDATIONS
  • REFERENCES
• 5. Health Care Organization and Use
  • INTRODUCTION
  • HEALTH CARE FOR CHILDREN WITH SCD
  • TRANSITION FROM PEDIATRIC TO ADULT CARE
  • HEALTH CARE FOR ADULTS WITH SCD
  • COMPREHENSIVE SCD CARE DELIVERY MODEL
  • BARRIERS TO COMPREHENSIVE CARE
  • SERVICES FOR SCT
  • CONCLUSIONS AND RECOMMENDATIONS
  • REFERENCES
• 6. Delivering High-Quality Sickle Cell Disease Care with a Prepared Workforce
  • GUIDELINES FOR HIGH-QUALITY SCD CARE
  • PATIENT-CENTERED DIMENSIONS OF HIGH-QUALITY CARE
  • PROMOTING UPTAKE OF RECOMMENDATIONS FOR SCD CARE
  • QUALITY INDICATORS FOR SCT AND GENETIC COUNSELING FOR SCD AND SCT
  • SUMMARY
  • THE AVAILABILITY OF A TRAINED AND PREPARED WORKFORCE
  • TRAINING THE NEXT GENERATION OF SCD CARE PROVIDERS
  • CONCLUSIONS AND RECOMMENDATIONS
  • REFERENCES
• 7. Developing and Delivering the Next Generation of Therapies
  • PATIENT PERSPECTIVES
  • THERAPIES UNDER DEVELOPMENT
  • CLINICAL TRIALS AND THE DRUG APPROVAL PROCESS
  • HEALTH CARE DELIVERY POLICY
  • REIMBURSEMENT POLICY
  • CONCLUSIONS AND RECOMMENDATIONS
  • REFERENCES
• 8. Community Engagement and Patient Advocacy
  • HISTORICAL PERSPECTIVE
  • SICKLE CELL COMMUNITY-BASED ORGANIZATIONS AND PATIENT ADVOCACY GROUPS
  • CHALLENGES FACED BY SICKLE CELL ADVOCATES AND GROUPS
  • MODELS OF PATIENT ADVOCACY FROM OTHER RARE DISEASES
  • OPPORTUNITIES TO MOVE FROM LOCAL TO SYSTEM-LEVEL CHANGE
  • SUMMARY
  • CONCLUSIONS AND RECOMMENDATIONS
  • REFERENCES
• 9. Strategic Plan and Blueprint for Sickle Cell Disease Action
  • REFERENCES
• Appendix A. Public Meeting Agendas and Submissions to the Committee
• Appendix B. Literature Search Terms and Strategy
• Appendix C. Committee and Staff Biographies
• Appendix D. Newborn Screening Results Reporting Protocols for Sickle Cell Disease and Sickle Cell Trait
• Appendix E. Sickle Cell Data Collection Program
• Appendix F. Georgia Comprehensive Sickle Cell Center: A Case Study
• Appendix G. Emory Adult Cystic Fibrosis Program
• Appendix H. Health Resources and Services Administration Sickle Cell Disease Programs
• Appendix I. Select Treatments Currently Under Development for Sickle Cell Disease
• Appendix J. Other Training Models for Hematologists
• Appendix K. Sickle Cell Community-Based Organizations and Patient Groups in the United States
• Appendix L. Summary Table of Strategic Plan and Blueprint for Sickle Cell Disease Action
• Appendix M. Summary Table of Sickle Cell Trait Discussion in Report
• Appendix N. Glossary

Suggested citation:

National Academies of Sciences, Engineering, and Medicine. 2020. Addressing sickle cell disease: A strategic plan and blueprint for action. Washington, DC: The National Academies Press. http://doi.org/10.17226/25632.

Digital Object Identifier: http://doi.org/10.17226/25632

Library of Congress Control Number: 2020943342

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