A STRATEGIC PLAN
Committee on Addressing Sickle Cell Disease:
A Strategic Plan and Blueprint for Action
Marie McCormick, Henrietta Awo Osei-Anto, and
Rose Marie Martinez, Editors
Board on Population Health and Public Health Practice
Health and Medicine Division
A Consensus Study Report of
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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 recommendations expressed in this publication do not necessarily reflect the views of any organizations or agency that provided support for this project.
International Standard Book Number-13: 978-0-309-66960-3
International Standard Book Number-10: 0-309-66960-X
Digital Object Identifier: http://doi.org/10.17226/25632
Library of Congress Control Number: 2020943342
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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.
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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 and 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
J. ANDREW ORR-SKIRVIN, Associate Clinical Professor, School of Pharmacy, and Interim Department Chair, Department of Pharmacy and Health System Sciences, Northeastern University
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
KIM SMITH-WHITLEY, Clinical Director, Division of Hematology, Director, Comprehensive Sickle Cell Center, Children’s Hospital of Philadelphia, University of Pennsylvania
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
ROBERT POOL, Deliberate Practice Consulting
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 manuscript remain confidential to protect the integrity of the deliberative process.
We thank the following individuals for their review of this report:
Although the reviewers listed above provided many constructive comments 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 considered. Responsibility for the final content rests entirely with the authoring committee and the National Academies.
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 individuals 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
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 individuals 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 support 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 Children’s Sickle Cell Foundation, Inc., Pittsburgh, Pennsylvania, for sharing 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 information for this report.
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 comprehensive 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 millions worldwide.1 While the molecular basis for the symptoms and complications of SCD and screening techniques to identify newborns with the disease have been known for decades, the development 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 quality of care. Finally, it should be noted that for a condition for which the presenting symptom may be acute and chronic pain, receipt of appropriate treatment is also influenced by the opioid crisis.
The report sets forth a substantial agenda beginning with the important need for information across the life span to characterize the trajectory
1 This text has changed since the prepublication release of this report to more accurately reflect the estimates of prevalence of sickle cell disease identified in the literature.
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 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 affected population, especially in view of historical mistrust. This is not an impossible agenda; examples from other inborn conditions indicate that it can be done. The resilience of individuals living with SCD and the dedication 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
Boxes, Figures, and Tables
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|AAFP||American Academy of Family Physicians|
|AAHIVM||American Academy of HIV Medicine|
|AAP||American Academy of Pediatrics|
|AAPT||Analgesic, Anesthetic, and Addiction Clinical Trial Translations Innovations Opportunities and Networks (ACTTION) American Pain Society Pain Taxonomy|
|ACA||Patient Protection and Affordable Care Act|
|ACEP||American College of Emergency Physicians|
|ACGME||Accreditation Council for Graduate Medical Education|
|ACO||accountable care organization|
|ACOG||American College of Obstetricians and Gynecologists|
|ACP||American College of Physicians|
|ACS||acute chest syndrome|
|AHRQ||Agency for Healthcare Research and Quality|
|APHL||Association of Public Health Laboratories|
|ASCQ-Me||Adult Sickle Cell Quality of Life Measurement Information System|
|ASH||American Society of Hematology|
|ASPHO||American Society of Pediatric Hematology/Oncology|
|BDI||Beck Depression Inventory|
|CAHPS||Consumer Assessment of Healthcare Providers and Systems|
|CAM||complementary and alternative medicine|
|CBT||cognitive behavioral therapy|
|CC||consultative- or co-management-centered|
|CCM||Chronic Care Model|
|CCNC||Community Care of North Carolina|
|CDC||Centers for Disease Control and Prevention|
|CDU||clinical decision unit|
|CFC||cystic fibrosis carrier|
|CFF||Cystic Fibrosis Foundation|
|CHW||community health worker|
|CIBD||Center 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|
|CPC+||comprehensive primary care plus|
|CRTI||Clinical Research Training Institute|
|CSHCN||children with special health care needs|
|CVS||chorionic villus sampling|
|DVT||deep vein thrombosis|
|ECHO||Extension for Community Healthcare Outcomes|
|EDSC3||Emergency Department of SCD Care Coalition|
|EHI||exertional heat illness|
|EHR||electronic health record|
|EPSDT||Early Periodic Screening, Diagnosis and Treatment|
|FDA||U.S. Food and Drug Administration|
|GBT||Global Blood Therapeutics|
|GERD||gastroesophageal reflux disease|
|GRADE||Grading of Recommendations Assessment, Development and Evaluation|
|HCV||hepatitis C virus|
|HFA||Hemophilia Federation of America|
|HHS||U.S. Department of Health and Human Services|
|HIPAA||Health Insurance Portability and Accountability Act|
|HLA||human leukocyte antigen|
|HOPE||Hematology–Oncology Psycho-Educational Needs Assessment|
|HPLC||high-performance liquid chromatography|
|HPSA||health professional shortage area|
|HRQOL||health-related quality of life|
|HRSA||Health Resources and Services Administration|
|HSA||Health Services Administration|
|HSCT||hematopoietic stem cell transplantation|
|HTC||hemophilia treatment center|
|HUMLO||Hemoglobinopathy Uniform Medical Language Ontology|
|ICD||International Classification of Diseases|
|ICER||Institute for Clinical and Economic Review|
|IDEA||Individuals with Disabilities Education Act|
|iHOMES||Improving Health Outcomes and Medical Education for Sickle Cell Disease|
|IOM||Institute of Medicine|
|IUGR||intrauterine growth restriction|
|IVF||in vitro fertilization|
|JHH||Johns Hopkins Hospital|
|JUH||Jefferson University Hospitals|
|KPMAS||Kaiser Permanente Mid-Atlantic States|
|LRP||loan repayment program|
|MASAC||Medical and Scientific Advisory Council|
|MCHB||Maternal and Child Health Bureau|
|MRI||magnetic resonance imaging|
|MSH||Multicenter Study of Hydroxyurea|
|NCAA||National Collegiate Athletic Association|
|NHF||National Hemophilia Foundation|
|NHLBI||National Heart, Lung, and Blood Institute|
|NHSC||National Health Service Corps|
|NICE||National Institute for Health and Care Excellence|
|NICHQ||National Institute for Children’s Health Quality|
|NIH||National Institutes of Health|
|NORD||National Organization for Rare Diseases|
|NQF||National Quality Forum|
|NSAID||non-steroidal anti-inflammatory drug|
|OASH||Office of the Assistant Secretary for Health|
|OUD||opioid use disorder|
|OWS||opioid withdrawal syndrome|
|PASCPN||Pennsylvania Sickle Cell Provider’s Network|
|PCMH||patient-centered medical home|
|PCORI||Patient-Centered Outcomes Research Institute|
|PCP||primary care provider|
|PCV||pneumococcal conjugate vaccine|
|PGD||pre-implantation genetic diagnosis|
|PiSCES||Pain in Sickle Cell Epidemiology Study|
|P-MAP||Pediatric Measure Application Partnership|
|PPSV (or PPV)||pneumococcal polysaccharide vaccine|
|PRES||posterior reversible encephalopathy syndrome|
|PRIDE||Program to Increase Diversity Among Individuals Engaged in Health-Related Research|
|PTSD||posttraumatic stress disorder|
|QOL||quality of life|
|RBC||red blood cell|
|REM||rapid eye movement|
|ROS||reactive oxygen species|
|RuSH||Registry and Surveillance System for Hemoglobinopathies|
|SCA||sickle cell anemia|
|SCCC||Sickle Cell Community Consortium|
|SCD||sickle cell disease|
|SCDAA||Sickle Cell Disease Association of America|
|SCDAAMI||Sickle Cell Disease Association of America, Michigan Chapter, Inc.|
|SCDAI||Sickle Cell Disease Association of Illinois|
|SCDC||Sickle Cell Data Collection|
|SCDFC||Sickle Cell Disease Foundation of California|
|SCDTDRCP||Sickle Cell Disease Treatment Demonstration Regional Collaborative Program|
|SCFGA||Sickle Cell Foundation of Georgia|
|SCI||silent cerebral infarct|
|SCT||sickle cell trait|
|SDM||shared decision making|
|SSA||Social Security Administration|
|SSDI||Social Security Disability Insurance|
|SSI||Supplemental Security Income|
|STEP||Solutions to Empower Patients|
|SUD||substance use disorder|
|TRV||tricuspid regurgitant velocity|
|USPSTF||U.S. Preventive Services Task Force|
|WBDR||World Bleeding Disorders Registry|
|WFH||World Federation of Hemophilia|
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