Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action (2020)

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Suggested Citation:"1 Introduction." 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. doi: 10.17226/25632.

Every single day that you get up out of bed, you’re fighting a battle, and when you take that first breath … it’s a breath of pain. You assess mentally. Okay, where are all the places that are hurting right now … and you actually have to take several deep breaths to push the circulation through your body.

—Tosin O. (Open Session Panelist)

Sickle cell disease (SCD) refers to a group of inherited red blood cell (RBC) disorders resulting from a mutation in hemoglobin, which impedes regular blood flow and leads to painful vaso-occlusive episodes and other severe complications (CDC, 2017b). Present at birth, SCD causes lifelong acute and chronic complications throughout the whole body. This debilitating, multi-system condition affects approximately 100,000 people in the United States and millions globally 1 (ASH, 2016; Mulumba and Wilson, 2015). Childhood mortality due to SCD has declined in the United States due to medical advances and preventive services, but despite this progress life expectancy and quality of life for people living with SCD are lower than for those without the disease (Lubeck et al., 2019; Piel et al., 2017), necessitating action to improve health and outcomes and reduce this disparity.

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.

SCOPE OF WORK

Charge to the Committee

The Office of Minority Health at the Office of the Assistant Secretary for Health at the U.S. Department of Health and Human Services (HHS) requested that the National Academies of Sciences, Engineering, and Medicine (the National Academies) convene a committee to develop a strategic plan and blueprint to address SCD in the United States. The Committee on Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action was established in response to this request. As part of its work, the committee was asked to develop a framework that provides guidance on the best approaches to addressing pertinent issues in SCD such as health care disparities, stigma, race and biases, access to care, workforce development, transitions in care, innovations needed, curative treatments, and the role of patient advocacy and community engagement. Box 1-1 shows the committee’s Statement of Task. In addressing the Statement of Task, the committee defined its scope as addressing challenges of SCD and sickle cell trait (SCT) 2 in the United States and creating an action plan for prolonging healthy lives through the delivery of high-quality and equitable care to individuals with SCD. The committee found it necessary to acknowledge the global burden of the disease in low- and middle-income countries in order to display the full context of its impact; this was especially important for areas where research and findings from other countries were essential to fill in knowledge gaps in the United States. The committee also addressed ethical concerns pertaining to areas such as screening, treatment, and research.

STUDY PROCESS AND INFORMATION GATHERING

This section presents the process that the committee used to identify and evaluate the scientific literature related to SCD and the Statement of Task, committee areas of expertise, how the literature search was conducted, and the evaluation criteria used to screen and categorize literature for the chapters.

Committee Expertise and Meetings

The National Academies appointed a team of 14 multidisciplinary experts to the Committee on Addressing Sickle Cell Disease: A Strategic Plan and Blueprint for Action; their expertise spanned epidemiology,

2 SCT is not a disease but refers to when an individual inherits one sickle gene from one parent and a normal gene from another parent. SCT carriers live normal lives and do not experience symptoms associated with SCD.

BOX 1-1
Committee’s Statement of Task

An ad hoc committee will be convened to develop a strategic plan and blueprint for addressing sickle cell disease (SCD) in the United States. In conducting its work, the committee will examine:

the epidemiology, health outcomes, genetic implications, and societal factors associated with SCD and sickle cell trait (SCT), including serious complications of SCD such as stroke, kidney and heart problems, acute chest syndrome, and debilitating pain crises;
current guidelines and best practices for the care of patients with SCD;
to the extent possible, the economic burden associated with SCD; and
current federal, state, and local programs related to SCD and SCT, including screening, monitoring and surveillance, treatment and care programs, research, and others.

The committee will provide guidance on priorities for programs, policies, and research and make recommendations, as appropriate, regarding:

limitations and opportunities for developing national SCD patient registries and/or surveillance systems;
barriers in the health care sector associated with SCD and SCT, including access to care and quality of care, workforce development, pain management, and transitions from pediatric to adult care;
needed innovations in research, particularly for curative treatments such as gene replacement/gene editing and increasing awareness and enrollment of SCD patients in clinical trials; and
the expanded and optimal role of patient advocacy and community engagement groups.

Committee guidance should be formulated around strategic objectives (strategic plan) and action steps (blueprint). Throughout all the deliberations, the committee will give consideration to ethical issues related to SCD and SCT.

hemoglobinopathies, pediatrics, hematology, oncology, emergency medicine, psychology, care management and delivery, pain management, health disparities, health economics, health policy, ethics, treatment of diseases associated with SCD, research, and workforce development.

The committee convened five times; it held public information-gathering sessions at each of those meetings and invited panelists to present on specific topics of interest to the committee. Full descriptions of the open session panels are included in Appendix A. The first meeting included the

presentation of the charge to the committee by the Assistant Secretary for Health and Office of Minority Health. Between the in-person meetings, committee members held deliberative sessions to review the literature, discuss the evidence base, and write the report.

Literature Search

The committee conducted a comprehensive literature search through the National Academies Research Center. The search encompassed a wide array of terms related to SCD and its complications, as detailed in Appendix B. The search was restricted to 1990–2019 except for the search terms: bias, stigma, discrimination, and racism, which had no date bounds to capture the experiences of minority populations in the health care system. The committee performed additional targeted searches, as needed, to supplement the landscape literature review and expanded their search to related patient populations when information on certain topics could not be found for SCD. Because there have been relatively few large, rigorous studies conducted on SCD and SCT, the committee decided not to employ specific criteria for including/excluding literature that was evaluated as part of this report, thus allowing for smaller, observational, and qualitative studies to be included in the committee’s analysis. The committee also examined abstracts of conference presentations to allow for inclusion of emerging research on SCD and SCT.

Conceptual Approaches for Information Gathering

Life-Span Approach

SCD causes various challenges at different stages in life, so the committee conceptualized the tasks for this report by assessing the needs of people living with SCD over the life span. For example, dactylitis occurs mainly in children, whereas heart failure and chronic leg ulcers typically affect adults. Age compounds the complications and impact of SCD on the affected individual’s body (Oyedeji et al., 2019; Quinn et al., 2010; Sandhu and Cohen, 2015; Swanson et al., 2011). Children may also experience strokes, which can negatively affect cognitive function, impede their performance in school, and explain long-term cognitive function limitations in adulthood, which can manifest as poor pain coping or non-adherence to prescribed treatments (Crosby et al., 2015; Gold et al., 2008; Greenham et al., 2016; Swanson et al., 2011). These long-term cognitive limitations could be a contributing factor to the high rate of unemployment in the SCD population (Swanson et al., 2011). Taking a life-span approach provides the

opportunity to identify specific areas for continued research and policy to improve care for individuals as they transition from pediatric to adult care and into old age. Figure 1-1 provides a graphical representation of some of the categories of interventions that the committee identified as crucial at different stages of life.

Person-Centric SCD Care Approach

Considering that more people with SCD are living into adulthood, it is important to understand how to manage this chronic disease across the life span, with collaborative input from physicians, those living with SCD and their families, and relevant community stakeholders. The committee decided that effective management of SCD needs to happen in the context of a team-based comprehensive care model that places the patient and his or her needs at the center. Consequently, the committee referred to a previous National Academies report titled Epilepsy Across the Spectrum (IOM, 2012) that provides a detailed description of a model used to provide care for epilepsy, which in turn was based on the so-called Chronic Care Model (see Figure 1-2). Developed by Edward Wagner and his colleagues, this model emphasizes the need for transformation in the health care delivery system to proactively keep individuals with chronic diseases healthy. Both

the health system and the community have key roles to play in equipping individuals with chronic conditions such as SCD to self-manage their conditions in pursuit of optimal outcomes (IOM, 2012; Wagner, 1998; Wagner et al., 2001, 2005). Similar care models for a variety of chronic diseases have been implemented, such as for cystic fibrosis (CF), which is discussed in Chapter 5, while others are being piloted by the Centers for Medicare & Medicaid Services and can be adapted for the SCD population.

OVERVIEW OF SCD AND SCT

SCD is a group of genetic blood disorders. A point mutation in the gene that codes for beta globin, one of the two types of amino acid chains that compose the adult hemoglobin, leads to an abnormal hemoglobin named hemoglobin S (HbS). HbS polymerizes under low oxygen states, forming elongated structures within the RBCs that deform their shape from a biconcave, donut-shaped disc to a sickle or crescent shape, from which the name of the disease derives (Booth et al., 2010; CDC, 2017b; Malowany and Butany, 2012; Mentzer and Wang, 1980; NHLBI, n.d.; Telen et al., 2019). James Herrick first discovered and named SCD in Chicago in 1910; he described the sickle RBCs he was examining as “peculiar, elongated and sickle-shaped red blood corpuscles” (ASH, 2008; Herrick, 1910, p. 517). In 1949 Linus Pauling postulated that SCD was caused by the presence of an abnormal hemoglobin molecule (ASH, 2008), representing the first identification of a molecular disease (Eaton, 2003).

The inheritance of a single copy of the mutation leads to SCT (heterozygous carrier), a mostly benign condition, while the inheritance of two copies of the mutation (HbSS) or one copy of the HbS mutation in combination with a copy of certain other hemoglobin mutations leads to SCD (see Figure 1-3). Thus, SCD is an autosomal recessive disease, because only the individual that inherits two mutated beta globin chains is affected. Table 1-1 describes SCT and the common SCD genotypes and provides the appropriate nomenclature.

SCD collectively denotes a set of syndromes that, if untreated, can be highly morbid and deadly (Dampier, 2019; Habara and Steinberg, 2016; NIH, 2019; Quinn, 2016; Williams and Weatherall, 2012).

The homozygous inheritance of HbS, also known as sickle cell anemia (SCA), is the most prevalent and severe form of the disease and also the most researched (Dampier, 2019; Habara and Steinberg, 2016). SCD also occurs as compound heterozygotes for HbS and other hemoglobin variants, including HbC, HbE, HbD, and HbO/Arab or beta thalassemia mutations (Habara and Steinberg, 2016; Serjeant, 2013; Williams and Weatherall, 2012). Hemoglobin Sb 0 –thalassemia (HbSb 0 ) is clinically similar to HbSS and sometimes jointly referred to as SCA (NHLBI, 2014). HbSC has

moderate clinical severity, and HbSb + is generally a milder genotype, although all individuals with SCD, regardless of the genotype, are at risk of severe complications (NIH, 2019; Quinn, 2016).

If both parents have SCT, each child will have a 50 percent chance of inheriting SCT and a 25 percent chance of inheriting SCD, while there is a 25 percent chance that the child will inherit neither SCT nor SCD and have non-mutated hemoglobin.

The origins of the sickle gene have been traced to sub-Saharan Africa (with earlier theories hypothesizing an independent, additional origin of the gene elsewhere). HbS confers partial protection from Plasmodium falciparum malaria, a major infectious killer in the tropics; hence, the mutation provides a survival advantage to individuals with SCT and has been conserved throughout evolution (Luzzatto, 2012; Williams and Weatherall, 2012). The trans-Atlantic slave trade and, later, global migration patterns

Genotype	Common Diagnostic Term	Types of Beta Globin Gene Mutation Product
Homozygous SS	Hemoglobin SS disease; sickle cell anemia	Two hemoglobin S genes (HbSS)
Compound Heterozygous SC	Hemoglobin SC disease	One hemoglobin S gene and one hemoglobin C gene (HbSC)
Compound Heterozygous SD	Hemoglobin SD disease	One hemoglobin S gene and one hemoglobin D gene (HbSD)
Compound Heterozygous SE	Hemoglobin SE disease	One hemoglobin S gene and one hemoglobin E gene (HbSE)
Compound Heterozygous SO	Hemoglobin SO disease	One hemoglobin S gene and one hemoglobin O gene (HbSO)
Compound Heterozygous S Beta Thalassemia Zero	S/B 0 thalassemia Hemoglobin S/B 0 thalassemia	One hemoglobin S gene and one hemoglobin beta thalassemia zero gene (HbSb 0 -thalassemia)
Compound Heterozygous S Beta Thalassemia Plus	S/B plus thalassemia Hemoglobin S/B+ thalassemia	One hemoglobin S gene and one hemoglobin beta thalassemia plus gene (HbSb + -thalassemia)
Sickle Cell Trait (Not a form of sickle cell disease)	Sickle Trait Hemoglobin AS	One hemoglobin A gene and one hemoglobin S gene (HbAS)

The HbS gene can now be found among every ethnic group, with the highest prevalence seen in individuals from sub-Saharan Africa and India and their descendants across the world; other areas of relatively high prevalence are the Middle East and Mediterranean basin (CDC, 2017a; Williams and Weatherall, 2012).

Epidemiology of SCD and SCT in the United States

An estimated 100,000 Americans are affected by SCD, and approximately 1 million to 3 million individuals in the United States are carriers of SCT, including approximately 8 to 10 percent of African Americans (ASH, n.d.; Hassell, 2010). Each year, 1,800 to 2,000 infants are born with SCD, including every 1 out of 365 African American births and 1 out of 16,300 Hispanic American births (CDC, 2018). An analysis of 2010 data from state newborn screening (NBS) programs found that the incidence of SCT in participating states was 15.5 cases per 1,000 newborns overall, including

73.1 cases per 1,000 African American newborns; 6.9 cases per 1,000 Hispanic newborns; 3.0 cases per 1,000 Caucasian American newborns; and 2.2 cases per 1,000 Asian, Native Hawaiian, or other Pacific Islander newborns (Ojodu et al., 2014). The total number of babies born with SCT in 2010 was estimated to be greater than 60,000 (CDC, 2018). Although SCD is relatively rare in the United States, there are millions of affected individuals across the globe.

The population living with SCD is concentrated along Southern and Eastern states in the United States (see Figure 1-4). This distribution has implications for access to care and state programming and policies. The map in Figure 1-4, which is based on a publication from almost 10 years ago, uses data estimated from NBS and therefore does not account for individuals with SCD born outside of those states or before universal NBS was implemented.

The mortality rate from SCD has historically been high, with most people not living past childhood due to a lack of access to proper care and a lack of treatment. However, in recent decades the mortality rate for children with SCD has been steadily decreasing, which can be attributed to preventative services, such as pneumococcal vaccines and the use of prophylactic penicillin to prevent sepsis. The Centers for Disease Control and Prevention

reported that SCD-related deaths for African American children aged 4 and younger decreased by 42 percent between 1999 and 2002 (CDC, 2017a). Despite medical advances, however, individuals living with SCD continue to experience barriers to access care and knowledgeable providers, and their average life expectancy remains 20–30 years lower than that of the average American (Lubeck et al., 2019; Piel et al., 2017). A recent simulation modeling study showed that projected quality-adjusted life expectancy for individuals with SCD was 33 years, compared with 67 years for the non-SCD cohort (Lubeck et al., 2019).

Diagnosis of SCD

SCD can be easily diagnosed by blood testing. The classical blood test is hemoglobin electrophoresis, which identifies and measures different types of hemoglobin, including HbS, in the blood (Mentzer and Wang, 1980). However, there are numerous other tests that are more suitable in specific situations or in determined subpopulations. For instance, most NBS programs employ high-performance liquid chromatography or isoelectric focusing to identify children with SCD (Naik and Haywood, 2015). Typically, a positive result by NBS is followed by a confirmatory test by the same or different method.

Prenatal diagnosis through chorionic villus sampling of fetal DNA and amniocentesis are also available (Mentzer and Wang, 1980; Yenilmez and Tuli, 2016). These tests may pose some risks and raise ethical and social concerns, as discussed in Chapter 3. Point-of-care diagnostic strategies for SCD and SCT are being developed and may be particularly advantageous in settings with limited resources (McGann and Hoppe, 2017; Steele et al., 2019).

Clinical Complications and Comorbidities

RBCs harboring high levels of HbS have a shorter life span (approximately 20 days versus approxinately 120 days for normal RBCs), which results in hemolysis, the premature destruction of RBCs. Hemolysis in turn results in anemia when the production of RBCs cannot compensate for their premature destruction (NHLBI, n.d.). In recent decades, thanks to in vitro studies and mouse models of SCD, multiple mechanisms of disease have been elucidated. Because of hemolysis and other changes to the integrity of RBCs, SCD results in a chronic inflammatory state that affects multiple other cell types. RBCs, white clood cells, platelets, and endothelial cells become hyperadhesive, causing them to stick to each other and to the walls of the blood vessels, thereby impeding blood flow to the organs and causing ischemia (lack of oxygen) and infarction (death of tissues). Chronic and

acute ischemia and the rapid restoration of blood flow lead to a cascade of downstream effects that predispose individuals with SCD to numerous complications (Sundd et al., 2019; Telen et al., 2019).

The severe, acute pain episodes that result from the sickling of RBCs and vaso-occlusion are known as the most common complication of SCD; however, SCD is also a complex multi-system disease, characterized by other acute and chronic clinical complications, which are discussed in Chapter 4.

Causes of Death for SCD Patients

Individuals in the United States with SCD have a life expectancy that is 30 years less than their same-ethnicity peers (Platt et al., 1994). While childhood mortality rates have declined to the point that 98 percent of children now survive to at least age 18, one study found that adult (> 19 years) mortality rates increased at a rate of 1 percent per year during the study period (1979–2005) (Lanzkron et al., 2013). Early death occurs in all SCD genotypes, including the compound heterozygous sickle cell syndromes, particularly during the delicate transition period from pediatric to adult care (Blinder et al., 2013).

Advances in the science, treatment, and management of SCD have led to improvements in survival, with most children living to at least 18 years of age (Hulihan et al., 2017). Despite this progress, morbidity and mortality remain high, especially among adults. A proportion of SCD deaths can be attributed to acute chest syndrome, stroke, pulmonary hypertension, and infection (Fitzhugh et al., 2005). However, a large proportion of deaths are sudden and undefined. A study of 306 autopsies conducted on patients with SCD found that almost 41 percent had experienced sudden and unexpected deaths (Manci et al., 2003). This incidence is slightly higher than that recorded in another study of 141 adults treated by a single physician at one institution. That study, which also used autopsy reports to determine the cause of death, classified approximately 24 percent of those deaths as sudden. The leading causes of death were determined to be pulmonary hypertension, renal failure, sepsis, thromboembolism, and cirrhosis (Darbari et al., 2015). In a recent study of 486 individuals identified from the California SCD Data Collection Program who died at a median age of 45 years, most were in the hospital (63 percent) and emergency department (15 percent), signaling that they may have been receiving care for an acute event that became life threatening (Johnston et al., 2020).

Health-Related Burden

Data from the Global Burden of Disease project suggest that sickle cell disorders in the United States alone are annually responsible for 744 deaths,

29,284 years of life lost, and 3,984 disability-adjusted life-years (DALYs) lost (Coles and Mensah, 2017). In terms of DALYs, the burden of SCD on individual patients exceeds that of numerous other severe illnesses, including Alzheimer’s disease, breast cancer, colorectal cancer, type 1 diabetes mellitus, HIV/AIDS, leukemia, 3 and stroke (Global Health Data Exchange, 2019) (see Figure 1-5). DALYs measure the potential years of life lost due to premature death and the years of healthy life lost due to disease or disability (WHO, 2006a). Another way of thinking of DALYs is as the additional expected years of life and healthy years of life that a patient would have enjoyed if he or she had never been diagnosed with the disease in question.

Available data suggest that SCD imposes a significant mortality and morbidity burden, but the quality and completeness of these data could be improved. Paulukonis et al. (2016) report SCD deaths using SCD surveillance data and find that about half of them are not captured by government mortality databases. It is unclear whether SCD patients who are invisible to government statistics die at higher or lower rates than their peers. This uncertainty suggests the value of expanding existing SCD surveillance and

3 This category includes acute lymphoid leukemia, acute myeloid leukemia, chronic lymphoid leukemia, and chronic myeloid leukemia.

patient registries to capture more complete data on health-related burden and other key metrics of patient well-being.

United States Versus Global Burden

In 2006 the World Health Organization declared SCD a global health issue and challenged countries to identify solutions to aid individuals living with the disease (WHO, 2006b). As mentioned before, available estimates indicate that 100,000 Americans currently have SCD. Globally, about 300,000 people are born with SCD each year (ASH, 2016; Thien and Thien, 2016). There are approximately 100,000,000 people worldwide who carry the SCT gene (ASH, n.d.). In some African countries, approximately 10–40 percent of the population carry the gene (ASH, 2016).

In developing countries, the burden of SCD is high; 90 percent of children do not live into adulthood (Sickle Cell Disease Coalition, n.d.). A systematic review conducted by Wastnedge et al. (2018) identified 67 studies (from literature published from 1980 through 2017) on incidence and mortality data in children under age 5. Africa experiences the highest SCD birth prevalence and mortality rate. The birth prevalence in Africa was 1,125 per 100,000 live births, compared with 43 per 100,000 live births in Europe (Wastnedge et al., 2018). Mortality data for SCD in children are limited; only 15 of the identified studies in the systematic review contained mortality data. Wastnedge et al. (2018) reported a pooled estimate of mortality per 100 years of child observation of 7.30 for Africa, 0.11 for Europe, and 1.06 for the United States (Wastnedge et al., 2018). The burden of SCD has been decreasing in the United States, especially in children; from 1999 through 2002 the mortality rate decreased by 68 percent for 0- to 3-year-olds, 39 percent for 4- to 9-year-olds, and 24 percent for 10- to 14-year-olds (CDC, 2017a). The child survival rate has increased to 94 percent in the United States. Even with this progress, the U.S. survival rate still lags behind the rate in Britain, which has a 99 percent survival rate for SCD, with an estimated median age of survival of 67 years (DeBaun et al., 2019; Gardner et al., 2016).

The economic costs associated with SCD also present a significant burden. In the United States, from 1989 through 1993 the 75,000 hospitalizations per year among people with SCD were estimated to cost $475 million annually (Ashley-Koch et al., 2000). SCD-related costs in the United States have now risen to $2 billion per year (CDC Foundation, 2019). In developing countries, information on the economic burden is limited. Proper care management for SCD in the United States and internationally needs to be addressed in an effort to decrease mortality rates and medical expenditures.

THE SICKLE CELL PATIENT AND THE HEALTH CARE SYSTEM

SCD has long been considered a childhood disease because survival to adulthood was uncommon due to the high rates of fatal infections in early childhood. Efforts to understand and address the disease have thus been focused on the pediatric population, which has resulted in an improved survival into young adulthood; for example, between 1999 and 2002 mortality rates decreased by 42 percent among African American children under the age of 4, thanks in part to the introduction of a vaccine against invasive pneumococcal disease (CDC, 2017a). However, mortality and morbidity rates increase dramatically as individuals transition into young adulthood and adulthood, likely because there is no standardized system to appropriately transition children into adult care. Other likely factors contributing to this increase are individuals’ lack of necessary knowledge and skills to make effective decisions about their care as they get older and their anxiety over receiving care from an unfamiliar provider (described in Chapter 6). Finally, health care personnel issues and resources play a role, as SCDexpert-led, multidisciplinary health care teams focusing on comprehensive care appear to be more prevalent and accessible in pediatrics than in adult care (Treadwell et al., 2011).

The health care needs of individuals living with SCD have been neglected by the U.S. and global health care systems, causing them and their families to suffer (Bahr and Song, 2015). Many of the complications that afflict individuals with SCD, particularly pain, are invisible. Pain is only diagnosed by self-reports, and in SCD there are few to no external indicators of the pain experience. Nevertheless, the pain can be excruciatingly severe and requires treatment with strong analgesics. Individuals with SCD often face discrimination by health care providers who do not see visible signs to corroborate the reports of pain and, with the frequent recurrence of crisis, tend to characterize the repeat acute care visits by individuals with SCD, a majority of whom are African American, as “drug-seeking” behavior (Jenerette and Brewer, 2010).

The SCD community has developed a significant lack of trust in the health care system due to the nearly universal stigma and lack of belief in its reports of pain, a lack of trust that has been further reinforced by historical events, such as the Tuskegee experiment, in which researchers deliberately withheld treatment from African Americans with syphilis in order to track the progression of the disease (CDC, 2015). This pervasive disengagement of an entire disease population from health care and research is partly responsible for the absence of new treatments to help improve care (Braveman and Gottlieb, 2014).

The neglect of SCD by the health care system extends to research into the natural history of the condition and the utility of different interventions

as well as to a lack of investigation into new treatments. There have been significant disparities in research funding for SCD compared with similar rare genetic disorders of childhood, as discussed for CF later in this chapter.

The decrease in survival rates for SCD following transition into adult care is fueled by the lack of evidence-based clinical practice guidelines across the life span, particularly for aging adults who continue to experience accelerated mortality. This has led to the current situation in which there is a pressing need to address treatment options for SCD, to improve the delivery of care and ensure optimal access to high-quality care with treatments to prevent subsequent morbidity and mortality, and to develop curative therapies. There is also an imperative to establish an informed workforce to apply these interventions.

POLICY MAKING AND FUNDING FOR SCD

Legislative Activity

Since the discovery of SCD, relatively few federal legislations with direct or indirect impact on SCD care, research, and funding have been enacted (see Figure 1-6).

The first landmark legislation for SCD was the National Sickle Cell Anemia Control Act of 1972 (Public Law 92-294), which authorized funding for screening and counseling programs, research programs for health care professionals, and medical training on SCD treatment and prevention. It also authorized the creation of comprehensive sickle cell research and treatment centers (Manley, 1984) and education clinics under the National Institutes of Health (NIH).

The Rare Diseases Act of 2002 (Public Law 107-280) was created to amend the Public Health Service Act; it authorized the creation of an Office of Rare Diseases under NIH. The purpose of this act was to provide a national research agenda, to offer educational opportunities for researchers, and to increase the development of diagnostics and treatments for those with rare diseases such as SCD (Public Law 107-280).

In 2004 the American Jobs Creation Act of 2004 (Public Law 108-357) was signed into law, amending Title XIX (Medicaid) of the Social Security Act. Section 712 of the act authorized primary and secondary medical services and treatment for individuals with SCD as medical assistance under the Medicaid program. It also directed the administrator of the Health Resources and Services Administration (HRSA) to conduct a demonstration program to develop and establish systemic mechanisms, including a national coordinating center, to improve the prevention and treatment of SCD. This act established the Sickle Cell Disease Treatment Demonstration Program, with the purpose of funding regional coordinating centers that