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Committee on Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action Marie McCormick, Henrietta Awo Osei-Anto, Rose Marie Martinez, Editors Board on Population Health and Public Health Practice Health and Medicine Division A Consensus Study Report of PREPUBLICATION COPY—Uncorrected Proofs

THE NATIONAL ACADEMIES PRESS  500 Fifth Street, NW  Washington, DC 20001 This activity was supported by Contract/Task Order No. HHSP233201400020B/ HHSP23337086 between the National Academy of Sciences and the Office of the Assistant Secretary for Health, an operating agency of the U.S. Department of Health and Human Services. Any opinions, findings, conclusions, or recommenda- tions expressed in this publication do not necessarily reflect the views of any orga- nizations or agency that provided support for this project. International Standard Book Number-13: 978-0-309-XXXXX-X International Standard Book Number-10: 0-309-XXXXX-X Digital Object Identifier: http://doi.org/10.17226/25632 Library of Congress Control Number: 2020943342 Additional copies of this publication are available from the National Academies Press, 500 Fifth Street, NW, Keck 360, Washington, DC 20001; (800) 624-6242 or (202) 334-3313; www.nap.edu. Copyright 2020 by the National Academy of Sciences. All rights reserved. Printed in the United States of America 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. PREPUBLICATION COPY—Uncorrected Proofs

The National Academy of Sciences was established in 1863 by an Act of Congress, signed by President Lincoln, as a private, nongovernmental institution to advise the nation on issues related to science and technology. Members are elected by their peers for outstanding contributions to research. Dr. Marcia McNutt is president. The National Academy of Engineering was established in 1964 under the charter of the National Academy of Sciences to bring the practices of engineering to advising the nation. Members are elected by their peers for extraordinary contributions to engineering. Dr. John L. Anderson is president. The National Academy of Medicine (formerly the Institute of Medicine) was established in 1970 under the charter of the National Academy of Sciences to advise the nation on medical and health issues. Members are elected by their peers for distinguished contributions to medicine and health. Dr. Victor J. Dzau is president. The three Academies work together as the National Academies of Sciences, Engineering, and Medicine to provide independent, objective analysis and advice to the nation and conduct other activities to solve complex problems and inform public policy decisions. The National Academies also encourage education and research, recognize outstanding contributions to knowledge, and increase public understanding in matters of science, engineering, and medicine. Learn more about the National Academies of Sciences, Engineering, and Medicine at www.nationalacademies.org. PREPUBLICATION COPY—Uncorrected Proofs

Consensus Study Reports published by the National Academies of Sciences, Engineering, and Medicine document the evidence-based consensus on the study’s statement of task by an authoring committee of experts. Reports typically include findings, conclusions, and recommendations based on information gathered by the committee and the committee’s deliberations. Each report has been subjected to a rigorous and independent peer-review process and it represents the position of the National Academies on the statement of task. Proceedings published by the National Academies of Sciences, Engineering, and Medicine chronicle the presentations and discussions at a workshop, symposium, or other event convened by the National Academies. The statements and opinions contained in proceedings are those of the participants and are not endorsed by other participants, the planning committee, or the National Academies. For information about other products and activities of the National Academies, please visit www.nationalacademies.org/about/whatwedo. PREPUBLICATION COPY—Uncorrected Proofs

COMMITTEE ON ADDRESSING SICKLE CELL DISEASE: A STRATEGIC PLAN AND BLUEPRINT FOR ACTION MARIE CLARE McCORMICK (Chair), Sumner and Esther Feldberg Professor (Emerita), Department of Social and Behavioral Sciences, Professor of Pediatrics, Harvard University GILDA BARABINO, Dean and Daniel and Frances Berg Professor, The Grove School of Engineering, The City College of New York MARY CATHERINE BEACH, Professor, General Internal Medicine and Berman Bioethics Institute, Johns Hopkins University LORI E. CROSBY, Professor of Pediatrics, Cincinnati Children’s Hospital AMY DAWSON, Associate Director, Medical Director, Fort Wayne Medical Education Program DARIUS LAKDAWALLA, Quintiles Chair in Pharmaceutical Development and Regulatory Innovation, Director of Research, University of Southern California BERNARD (BERNIE) LOPEZ, Professor and Executive Vice Chair, Department of Emergency Medicine, Sidney Kimmel Medical College, Thomas Jefferson University JONATHAN D. MORENO, David & Lyn Silfen University Professor, Professor of Medical Ethics and Health Policy, Professor of History and Sociology of Science, and Professor of Philosophy, University of Pennsylvania ENRICO M. NOVELLI, Associate Professor of Medicine, University of Pittsburgh; Director, Adult Sickle Cell Program, and Chief, Section of Benign Hematology, University of Pittsburgh Medical Center IFEYINWA (IFY) OSUNKWO, Hematologist-Oncologist Director, Sickle Cell Program, Atrium Health SUSAN PAULUKONIS, Program Director, California Rare Disease Surveillance Program, Tracking California CHARMAINE ROYAL, Associate Professor, Department of African and African American Studies, Duke University J. ANDREW ORR-SKIRVIN, Associate Clinical Professor, School of Pharmacy, and Interim Department Chair, Department of Pharmacy and Health System Sciences, Northeastern University KIM SMITH-WHITLEY, Clinical Director, Division of Hematology, Director, Comprehensive Sickle Cell Center, Children’s Hospital of Philadelphia v PREPUBLICATION COPY—Uncorrected Proofs

Staff HENRIETTA AWO OSEI-ANTO, Study Director KAREN M. ANDERSON, Senior Program Officer T. CHERI BANKS, Associate Program Officer (September 2018–December 2019) AHMED MOUER, Research Assistant (July 2019–January 2020) PAMELA RAMEY-McCRAY, Senior Program Assistant (December 2018–March 2019) CYNDI TRANG, Research Associate (from June 2019) HAYAT YUSUF, Senior Program Assistant (March 2019–February 2020) ROSE MARIE MARTINEZ, Senior Director, Board on Population Health and Public Health Practice Consultant ROBERT POOL, Deliberate Practice Consulting vi PREPUBLICATION COPY—Uncorrected Proofs

Reviewers This Consensus Study Report was reviewed in draft form by individuals chosen for their diverse perspectives and technical expertise. The purpose of this independent review is to provide candid and critical comments that will assist the National Academies of Sciences, Engineering, and Medicine in making each published report as sound as possible and to ensure that it meets the institutional standards for quality, objectivity, evidence, and responsiveness to the study charge. The review comments and draft manu- script remain confidential to protect the integrity of the deliberative process. We thank the following individuals for their review of this report: SHAWN BEDIAKO, University of Maryland, Baltimore County CHANCELLOR E. DONALD, Tulane University School of Medicine and University Medical Center, New Orleans JAMES ECKMAN, Emory University School of Medicine TITILOPE FASIPE, Baylor College of Medicine and Texas Children’s Cancer & Hematology JOHNSON HAYNES, JR., University of South Alabama HOXI JONES, Senior Adult Consumer Advocate JULIE KANTER, University of Alabama at Birmingham PATRICIA KAVANAGH, Boston University CATO T. LAURENCIN, University of Connecticut TIMOTHY J. LEY, Washington University School of Medicine in St. Louis vii PREPUBLICATION COPY—Uncorrected Proofs

viii REVIEWERS GWENDOLYN POLES, University of Pittsburgh Medical Center Pinnacle and South Central PA Sickle Cell Council JOSEPH TELFAIR, Jiann-Ping Hsu College of Public, Georgia Southern University Although the reviewers listed above provided many constructive com- ments and suggestions, they were not asked to endorse the conclusions or recommendations of this report, nor did they see the final draft before its release. The review of this report was overseen by OTIS W. BRAWLEY, Johns Hopkins University, and MAXINE HAYES, University of Washington. They were responsible for making certain that an independent examination of this report was carried out in accordance with the standards of the National Academies and that all review comments were carefully consid- ered. Responsibility for the final content rests entirely with the authoring committee and the National Academies. PREPUBLICATION COPY—Uncorrected Proofs

Acknowledgments The study committee and the Health and Medicine Division project staff take this opportunity to recognize and thank the many individuals who shared their time and expertise to support the committee’s work and inform its deliberations. This study was sponsored by the Office of Minority Health at the Office of the Assistant Secretary for Health at the U.S. Department of Health and Human Services. We thank Admiral Brett Giroir and Captain David Wong for their support and guidance. The committee benefited greatly from discussions with the individu- als who presented at and attended the committee’s open sessions: Lakiea Bailey, Zyekevious (Zye) Barnes, Edward Benz, Jr., Beatrice Bowie, Brynn Bowman, Stephen Cha, Cheryl Damberg, Bernard Dauvergne, Tracie Bullock Dickson, Brian M. Elliott, ADM Brett P. Giroir, Jeffrey Glassberg, Gregory Green, Jonathan Hamilton, Elijah Henry, Tony Ho, Mary Hulihan, Charles Jonassaint, Ronald M. Kline, Ruth Krystopolski, Ted W. Love, Marc Manley, Donna McCurry, Emily Riehm Meier, Shirley Miller, Betsy Myers, Jennifer Nsenkyire, Tosin Ola, Derek Robertson, Kathryn Sabadosa, Carmen Sánchez, Adrienne Bell-Cors Shapiro, Amy Shapiro, Barbara Speller-Brown, James G. Taylor VI, Michael Thomas, Alexis Thompson, Sara van Geertruyden, Mark Walters, Richard P. Weishaupt, Shauna H. Whisenton, Wanda Whitten-Shurney, Celia Witten, Teonna Wolford, and CAPT David Wong. The committee would also like to thank all participants who attended the committee’s open sessions and all others who made or submitted comments or materials for the committee’s consideration. The committee is grateful to these presenters for volunteering to share their ix PREPUBLICATION COPY—Uncorrected Proofs

x ACKNOWLEDGMENTS expertise, knowledge, data, and opinions not only with the committee, but also with the members of the public who participated in the committee’s open sessions. The committee also appreciates the efforts of numerous in- dividuals who assisted project staff in identifying the presenters. We would like to thank and acknowledge organizations who supported and provided us with invaluable information to consider for this report, including the staff at the American Society of Hematology, the Association of Public Health Laboratories, the Centers for Disease Control and Prevention, and the Health Resources and Services Administration. Furthermore, we acknowledge the many staff within the Health and Medicine Division who provided support in various ways to this project, including Stephanie Hanson, Aimee Mead, Sophie Yang, Rebecca Chevat, Dionna Ali, and Anne Styka; Nicole Joy and Greta Gorman from the communications office; Lauren Shern and Taryn Young who provided sup- port during the review process; Misrak Dabi, financial associate for the project; the late Daniel Bearss, senior research librarian, who conducted and compiled all of the literature searches; Jorge Mendoza-Torres, senior research librarian who assisted with additional searches; Robert Pool, for his editorial assistance provided in preparing the final report; and Andrea Matthews of the Brashear Association, Pittsburgh, Pennsylvania, for shar- ing her expertise and personal experience to inform the report. Finally, we want to thank our consultants, Anna Hood, Jenny Park, Shantanu Srivatsa, and Jeffrey Yu, who assisted committee members with identifying informa- tion for this report. PREPUBLICATION COPY—Uncorrected Proofs

Preface This consensus study report was commissioned by the Office of Minority Health at the Office of the Assistant Secretary for Health at the U.S. Department of Health and Human Services to provide a comprehen- sive approach to the management and potential interventions for sickle cell disease (SCD), a genetic condition affecting approximately 100,000 people in the United States and 1 million worldwide. While the molecular basis for the symptoms and complications of SCD, and screening techniques to iden- tify newborns with the disease have been known for decades, the develop- ment of interventions to improve the quality of life for these individuals, as well as the organization of health care systems to deliver appropriate care, has lagged. There has been substantial success in increasing the survival of children with SCD, but this success had not been translated to similar care as they now become adults. As will be argued in the report, a factor contributing to the slow progress is the fact that SCD is largely a disease of African Americans, and as such exists in a context of racial discrimination, mistrust of the health care system, and the effects of poverty. In addition, there is substantial evidence that those with SCD may receive poorer qual- ity of care. Finally, it should be noted that for a condition for which the presenting symptom may be acute and chronic care, receipt of appropriate treatment is also influenced by the opioid crisis. The report sets forth a substantial agenda beginning with the impor- tant need for information across the life span to characterize the trajectory of SCD and the antecedents of later complications. In parallel is the need to organize health care delivery and other services at the local, state and global levels with a knowledgeable workforce to address the multiple needs xi PREPUBLICATION COPY—Uncorrected Proofs

xii PREFACE of those with SCD, including engaging with the educational system and community-based groups. Although there is evidence of several important therapies in the pipeline, greater investment in research is needed into both more of these therapies and the dissemination of effective care into the af- fected population, especially in view of historical mistrust. This is not an impossible agenda; examples from other inborn conditions indicates that it can be done. The resilience of individuals living with SCD and the dedica- tion of their families and communities that support them should also be harnessed as part of the solution. I wish to express my gratitude for the excellent and demanding work done by the committee and staff members. However, special thanks are due to the individuals and organizations who shared often searing accounts of living with SCD, underscoring the urgency of the recommendations in the report. Marie Clare McCormick, Chair Committee on Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action PREPUBLICATION COPY—Uncorrected Proofs

Contents ACRONYMS AND ABBREVIATIONS xxi SUMMARY1 1 INTRODUCTION 19 Scope of Work, 20 Study Process and Information Gathering, 20 Overview of SCD and SCT, 25 The Sickle Cell Patient and the Health Care System, 33 Policy Making and Funding for SCD, 34 Key SCD Actors, 36 Organization of the Report, 38 References, 41 2 SOCIETAL AND STRUCTURAL CONTRIBUTORS TO DISEASE IMPACT 47 Introduction, 48 Societal Factors, 48 Individual Factors, 54 Environmental Factors, 60 The Burden of SCD, 61 Conclusions and Recommendations, 72 References, 73 xiii PREPUBLICATION COPY—Uncorrected Proofs

xiv CONTENTS 3 SCREENING, REGISTRIES, AND SURVEILLANCE 81 Screening for SCD and SCT, 83 Communicating Screening Results, 91 The Use of Screening Data, 96 Patient Registries, 99 Public Health Surveillance, 103 Ethical Implications and Privacy Considerations, 105 Conclusions and Recommendations, 112 References, 114 4 COMPLICATIONS OF SICKLE CELL DISEASE AND CURRENT MANAGEMENT APPROACHES 123 Introduction, 124 Pain in SCD, 125 Overview of SCD Complications, 138 Management of SCD, 155 SCT, 162 Conclusions, 163 References, 165 5 HEALTH CARE ORGANIZATION AND USE 185 Introduction, 186 Health Care for Children with SCD, 186 Transition from Pediatric to Adult Care, 201 Health Care for Adults with SCD, 205 Comprehensive SCD Care Delivery Model, 219 Barriers to Comprehensive Care, 228 Services for SCT, 230 Conclusions, 231 References, 234 6 DELIVERING HIGH-QUALITY SICKLE CELL DISEASE CARE WITH A PREPARED WORKFORCE 249 Guidelines for High-Quality SCD Care, 250 Patient-Centered Dimensions of High-Quality Care, 259 Promoting Uptake of Recommendations for SCD Care, 268 Quality Indicators for SCT and Genetic Counseling for SCD and SCT, 269 Summary, 271 The Availability of a Trained and Prepared Workforce, 272 Training the Next Generation of SCD Care Providers, 280 Conclusions, 289 References, 293 PREPUBLICATION COPY—Uncorrected Proofs

CONTENTS xv 7 DEVELOPING AND DELIVERING THE NEXT GENERATION OF THERAPIES 303 Patient Perspectives, 304 Therapies Under Development, 307 Clinical Trials and the Drug Approval Process, 323 Health Care Delivery Policy, 326 Reimbursement Policy, 329 Conclusions and Recommendations, 336 References, 338 8 COMMUNITY ENGAGEMENT AND PATIENT ADVOCACY 353 Historical Perspective, 354 Sickle Cell CBOs and Patient Advocacy Groups, 357 Challenges Faced by Sickle Cell Advocates and Groups, 373 Models of Patient Advocacy from Other Rare Diseases, 376 Opportunities to Move from Local to System-Level Change, 385 Summary, 387 Conclusions and Recommendations, 391 References, 392 9 STRATEGIC PLAN AND BLUEPRINT FOR SICKLE CELL DISEASE ACTION  397 References, 417 APPENDIXES A Public Meeting Agendas and Submissions to the Committee 419 B Literature Search Terms and Strategy 427 C Committee and Staff Biographies 433 D Newborn Screening Results Reporting Protocols for Sickle Cell Disease and Sickle Cell Trait 441 E Sickle Cell Data Collection Program 445 F Georgia Comprehensive Sickle Cell Center: A Case Study 449 G Emory Adult Cystic Fibrosis Program 451 H Health Resources and Services Administration Sickle Cell Disease Programs 453 I Select Treatments Currently Under Development for Sickle Cell Disease 457 J Other Training Models for Hematologists 467 K Sickle Cell Community-Based Organizations and Patient Groups in the United States 473 PREPUBLICATION COPY—Uncorrected Proofs

xvi CONTENTS L Summary Table of Strategic Plan and Blueprint for Sickle Cell Disease Action 479 M Summary Table of Sickle Cell Trait Discussion in Report 487 N Glossary 489 PREPUBLICATION COPY—Uncorrected Proofs

Boxes, Figures, and Tables BOXES S-1 Committee’s Statement of Task, 2 1-1 Committee’s Statement of Task, 21 3-1 A Patient’s Voice: A Changing Perspective, 107 4-1 American Pain Society Pain Taxonomy Diagnostic Criteria for Chronic Pain Associated with SCD (Chronic SCD Pain), 129 5-1 Key Elements for an Ideal Care Model, 226 6-1 Highlights of the National Heart, Lung, and Blood Institute Expert Panel Recommendations for SCD, 2014, 253 8-1 A Caregiver’s Story, 371 FIGURES S-1  life-span approach to understanding and addressing the A needs of the SCD population, 7 S-2 Model of person-centric care for SCD, 8 S-3 Strategic plan for improving SCD care and outcomes in the United States, 10 xvii PREPUBLICATION COPY—Uncorrected Proofs

xviii BOXES, FIGURES, AND TABLES 1-1  life-span approach to understanding and addressing the needs A of the SCD population, 23 1-2 Model of person-centric care for SCD, 24 1-3 How sickle cell trait and sickle cell disease are inherited, 26 1-4 Geographic distribution of SCD by state using data derived from the National Newborn Screening Information System, 28 1-5 Mean disease burden in the United States among individuals with certain diseases, 31 1-6 Timeline of key SCD-related milestones, 35 1-7 Timeline of SCD drug approvals, 37 1-8 NIH funding for SCD versus CF, 38 1-9 Foundation funding for SCD versus CF, 38 2-1 Estimated number of individuals with SCD across the United States and Medicaid non-expansion states, 66 6-1 Guiding framework for the transformation of care delivery, 251 6-2 Core measure sets for SCD care, 271 6-3 Elements of improving ED experience, 285 7-1 Schematic diagram of the mechanisms of action of pathophysiology-­ ased new therapeutic options for treatment b of SCD and sickle cell vasculopathy, 308 8-1 Federal agencies involved in SCD and SCT activities stemming from the Sickle Cell Treatment Act, 355 8-2 Multiple barriers can be addressed by CHWs for SCD, 364 8-3 Funding sources for SCD patient organizations, 374 9-1 Strategic plan for improving SCD care and outcomes in the United States, 399 TABLES 1-1 Common Sickle Cell Disease Genotypes, Mutational Products, and Nomenclature, 27 1-2 Description of Sickle Cell Disease Key Actors, 39 3-1 Stakeholders Informed by Newborn Screening Programs, 94 4-1 Summary of SCD Complications by Affected Organ or System, 140 4-2 Summary of Non-Organ-Specific SCD Complications, 149 PREPUBLICATION COPY—Uncorrected Proofs

BOXES, FIGURES, AND TABLES xix 5-1 The ABCs for Managing Acute Sickle Cell Pain, 215 5-2 Simple Rules for the 21st-Century Health Care System, 224 6-1 Multidisciplinary Team of Medical Providers and Specialists Necessary to Provide Comprehensive SCD Care, 274 8-1 CBO Services Supporting the Needs of Children and Adults with SCD and SCT, Not Including Advocacy, 359 8-2 Proposed Classification System for Stratification of Services Provided by an SCD CBO, 387 PREPUBLICATION COPY—Uncorrected Proofs

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Acronyms and Abbreviations AAFP American Academy of Family Physicians AAHIVM American Academy of HIV Medicine AAP American Academy of Pediatrics ABP American Board of Pediatrics ACA Patient Protection and Affordable Care Act ACEP American College of Emergency Physicians ACO accountable care organization ACOG American College of Obstetricians and Gynecologists ACP American College of Physicians ACS acute splenic sequestration AHRQ Agency for Healthcare Research and Quality APHL Association of Public Health Laboratories APHON Association of Pediatric Hematology/Oncology Nurses ASCQ-Me Adult Sickle Cell Quality of Life Measurement Information System ASH American Society of Hematology ASPHO American Society of Pediatric Hematology/Oncology AVN Avascular Necrosis AYA adolescent and young adult BRFSS Behavioral Risk Factor Surveillance System CAHPS Consumer Assessment of Healthcare Providers and Systems CAM complementary and alternative medicine CBO community-based organization xxi PREPUBLICATION COPY—Uncorrected Proofs

xxii ACRONYMS AND ABBREVIATIONS CBT cognitive behavioral therapy CC consultative- or co-management-centered CDC Centers for Disease Control and Prevention CDU clinical decision unit CF cystic fibrosis CFF Cystic Fibrosis Foundation CHS Carolinas HealthCare System CHW community health worker CIBD Centers for Inherited Blood Disorders CIRM California Institute for Regenerative Medicine CKD chronic kidney disease CMC children with medical complexity CMMI Center for Medicare & Medicaid Innovation CMS Centers for Medicare & Medicaid Services CS central sensitization CSHCN children with special health care needs CVS chorionic villus sampling CYSHCN children and youth with special health care needs DBDR Division of Blood Diseases and Resources DHTR delayed hemolytic transfusion reaction DVT deep vein thrombosis EACT Ensuring Access to Clinical Trials Act EB episode-based ECHO Extension for Community Healthcare Outcomes ED emergency department EDH epidural hematoma EDSC3 Emergency Department of SCD Care Coalition EHI exertional heat illness EPSDT Early Periodic Screening, Diagnosis and Treatment ESRD end-stage renal disease FDA U.S. Food and Drug Administration FES fat embolism syndrome GBD global burden of disease GBT Global Blood Therapeutics GERD gastroesophageal reflux disease GVHD graft-versus-host-disease HCV hepatitis C virus HDN hemolytic disease of the newborn PREPUBLICATION COPY—Uncorrected Proofs

ACRONYMS AND ABBREVIATIONS xxiii HLA human leukocyte antigen HOPE  Hematology-Oncology Psycho-Educational Needs Assessment HPLC high-performance liquid chromatography HRQOL health-related quality of life HRSA Health Resources and Services Administration HSCT hematopoietic stem cell transplantation HTC hemophilia treatment center HU hydroxyurea HUMLO Hemoglobinopathy Uniform Medical Language Ontology ICD International Classification of Diseases ICER Institute for Clinical and Economic Review IDEA Individuals with Disability Education Act IEF isoelectric focusing IEP individualized education plan iHOMES Improving Health Outcomes and Medical Education for Sickle Cell Disease Network IOM Institute of Medicine IOP intraocular pressure IUGR intrauterine growth restriction IVF in vitro fertilization MCHB Maternal and Child Health Bureau MSBR mindfulness-based stress reduction MVA motor vehicle accident NBS newborn screening NCAA National Collegiate Athletic Association NCBDDD National Center on Birth Defects and Developmental Disabilities NCDHHS North Carolina Department of Health and Human Services NHF National Hemophilia Foundation NHLBI National Heart, Lung, and Blood Institute NICE National Institute for Health and Care Excellence NICHQ National Institute for Children’s Health Quality NIDDK  National Institute of Diabetes and Digestive and Kidney Diseases NIH National Institutes of Health NQF National Quality Forum NQMF National Minority Quality Forum NSAID non-steroidal anti-inflammatory drug NSCH National Survey of Children’s Health PREPUBLICATION COPY—Uncorrected Proofs

xxiv ACRONYMS AND ABBREVIATIONS OASH Office of the Assistant Secretary for Health OIH opioid-induced hyperalgesia OSA obstructive sleep apnea OUD opioid use disorder OWS opioid withdrawal syndrome PATA Patients’ Access to Treatments Act PBRS performance-based risk-sharing agreement PCC primary care-centered PCMH patient-centered medical home PCORI Patient-Centered Outcomes Research Institute PCP primary care provider PECARN Pediatric Emergency Care Applied Research Network PFT pulmonary function test PGD pre-implantation genetic diagnosis PHRESH Public Health Research and Surveillance for Hemoglobinopathies PiSCES Pain in Sickle Cell Epidemiology Study PKU phenylketonuria PLWSCD people living with sickle cell disease PRES posterior reversible encephalopathy syndrome PRO patient-reported outcome QI quality indicator QMETRIC Quality Measurement, Evaluation, Testing, Review, and Implementation Consortium QOL quality of life ROS reactive oxygen species RUSH Registry and Surveillance System for Hemoglobinopathies SCA sickle cell anemia SCAPN Sickle Cell Adult Provider Network SCCC Sickle Cell Community Consortium SCD sickle cell disease SCDAA Sickle Cell Disease Association of America SCDAAMI Sickle Cell Disease Association of American, Michigan Chapter, Inc. SCDAI Sickle Cell Disease Association of Illinois SCDC Sickle Cell Data Collection (Program) SCDTDP Sickle Cell Disease Treatment Demonstration Program SCHIP State Children’s Health Insurance Program SCT sickle cell trait PREPUBLICATION COPY—Uncorrected Proofs

ACRONYMS AND ABBREVIATIONS xxv SGA small for gestational age SSA Social Security Administration SSDI Social Security Disability Insurance SSI Supplemental Security Income SUD substance use disorder SVT supraventricular tachycardia TAMMV time-averaged mean of the maximum velocity TCD transcranial doppler TS transition service TWiTCH Transfusions Changing to Hydroxyurea VAS visual analogue scale VOC vaso-occlusive crisis VOE vaso-occlusive episode VTE venous thromboembolism PREPUBLICATION COPY—Uncorrected Proofs

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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.

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