Sickle cell disease: changes in the blood of US policy

Citation

Smith, W. (2008), "Sickle cell disease: changes in the blood of US policy", Clinical Governance: An International Journal, Vol. 13 No. 3. https://doi.org/10.1108/cgij.2008.24813cab.001

Sickle cell disease: changes in the blood of US policy

Article Type: North American perspectives From: Clinical Governance: An International Journal, Volume 13, Issue 3

Sickle cell disease (SCD) is one of the most common inherited blood disorders in the USA, and affects millions throughout the world. This set of genetic hemoglobinopathies causes severe pain, anemia, susceptibility to infection, and early death. SCD is particularly common among people whose ancestors come from Sub-Saharan Africa, South America, Cuba, Central America, Saudi Arabia, India, and Mediterranean countries such as Turkey, Greece, and Italy (World Health Organizaion Genomic Resource Centre, available at: www.who.int/genomics/public/geneticdiseases/en/index2.html\#SCA (accessed May 16, 2008)). The gene for hemoglobin S is present in one in 12 African-Americans.

In the USA, governmental attention was first paid to SCD in 1972, with passage of the Sickle Cell Anemia Control Act[1]. This led to establishment of some state newborn screening programs, genetic counseling services, and federal research and guidelines for care of SCD at the National Institutes of Health (NIH) (Reid et al., 1995). But it took 20 years, publication of a landmark study on the life-saving power of penicillin prophylaxis among newborns with SCD (Gaston et al., 1986), and statements from key advocacy and scientific organizations (Consensus Conference, 1987; American Academy of Pediatrics, 1996; Sickle Cell Disease Guideline Panel, 1993) before most US states adopted newborn SCD screening (Newborn Screening Task Force, 2000).

By 2000, most US states screened newborns for SCD. Resulting morbidity and mortality for SCD dramatically declined, and many more children survived well into adulthood (Olney, 1999). But, merged results from physician and parental surveys conducted in California, Illinois, and New York, three of the most populous US sickle cell states, suggested that though provision of penicillin prophylaxis was high, physician-reported compliance for their patients’ medical intervention was low (Centers for Disease Control and Prevention (CDC) (2000)).

Until recently, little change was evident in the “blood” of official US policy toward SCD since the 1972 Act. Even private activity aimed at SCD treatment, eradication through prevention, and advocacy appeared dormant or languishing. Fortunately, in the past few years, significant progress has been made towards better diagnosis and treatment of SCD, both by the federal government and the private sector. Most importantly, recent changes announced by both groups will no doubt increase public awareness about SCD, and move the world forward in the battle against it.

First, in 2003 a landmark publication found that taking hydroxyurea was associated with a 40 percent reduction in mortality in the observational follow-up period of the Multicenter Study of Hydroxyurea (MSH) (Steinberg et al., 2003). The original randomized MSH trial had already shown massive reductions in painful episodes and some complications of SCD (Charache et al., 1995).

Then, in October of 2003, the US Health Resources and Services Administration announced 17 grants and a cooperative agreement totaling $3.6 million to improve newborn screening and follow-up services for infants with SCD and their families. Two-year grants were awarded to link state newborn screening programs, comprehensive sickle cell treatment centers and health care professionals with community-based organizations to provide services (HRSA News: HRSA Awards $3.6 Million to Improve State Sickle Cell Disease and Newborn Screening Programs, available at: http://newsroom.hrsa.gov/releases/2003/sicklecell.htm, accessed May 16, 2008).

In 2004, the Sickle Cell Disease Association of America, the nation’s chief patient advocacy group for the cause of SCD, took two bold steps. First, after 30 years of being headquartered in distant Los Angeles, California, it moved its headquarters to downtown Baltimore, Maryland, nearby the nation’s capital, Washington, DC. This geography permitted a greater influence on legislation and federal policy regarding SCD. Second, after being led predominately by lay persons from its inception, it named a physician as its chief executive and chief operating officer (News, Events, and Archives. Sickle Cell Disease Association of America, available at: www.sicklecelldisease.org/news/2004/press10.phtml, accessed May 16, 2008). This permitted closer communication and cooperation between SCD patient advocates and the SCD clinical and scientific community.

Most recently in 2008, the NIH both released the findings of a consensus panel it convened on the efficacy and effectiveness of hydroxyurea for adults and children with SCD, and reorganized the bulk of its portfolio of research grants to study SCD.

First, from February 25-27, 2008, the NIH held a Consensus Panel meeting to discuss treatment of SCD with hydroxyurea, one of the few such panels assembled to discuss a sickle cell topic. The panel heard from a variety of SCD patient and physician experts, and was itself composed of leading scientists and health care experts. The panel issued a statement, finding that hydroxyurea was underutilized for SCD, that access to SCD care and education about hydroxyurea were inadequate, and that provider and patient concerns about hydroxyurea hindered its use, depriving many patients of its proven benefits. Further, the panel concluded the risks of hydroxyurea use were acceptable when compared to the risks of untreated SCD in adolescents and adults.

The panel cited an undue dependence on urgent and emergency care as the only available treatment system for pain and other features of SCD. As a solution to the resultant restriction of access to hydroxyurea, the panel called for more providers armed with the knowledge, skills, and experience to effectively manage adults with SCD, and for insurance (Medicare or Medicaid) coverage of SCD patients of all ages (NIH Consensus Development Conference: Hydroxyurea Treatment for Sickle Cell Disease, available at: http://consensus.nih.gov/2008/2008SickleCellCDC119main.htm, accessed May 16, 2008).

Days later, on March 10, the National Heart Lung and Blood Institute announced a “comprehensive and innovative restructuring” of its research program in SCD (NHLBI Announcement: Institute to Realign its Sickle Cell Disease Research Program, available at: www.nhlbi.nih.gov/meetings/workshops/Sickle-Cell-Announcement.htm, accessed May 16, 2008). To guide its restructuring, the NHLBI first “rigorously assessed” its research program in SCD. The NHLBI Advisory Council reviewed results of its SCD research and training grant portfolio, then weighed responses received to a public solicitation for input from patients and lay and professional constituencies about the top scientific and clinical SCD priorities. The result was a decision to newly or more focus NHLBI resources on basic science and on translational and clinical research, to increase participation of patients in clinical research, and to enhance translation and dissemination of NHLBI SCD research to the community.

The NHLBI enacted or promised to enact the following changes to its research portfolio, in order to execute the realigned SCD research agenda:

• •

  It expanded support for basic research through funding of investigator-initiated grant applications.

• •

  It reconfigured the Comprehensive Sickle Cell Center (CSCC) program, previously its centerpiece for critical mass in SCD research, into a Basic and Translational Research Program (BTRP). Rather than fund full CSCC applications with as many as 8-10 thematically related scientific projects of uneven quality, NHLBI funded only the most meritorious scientific projects that had been submitted in response to its latest request for applications (Request for Applications RFA-HL-06-008, U-54 Comprehensive Sickle Cell Centers, available at: http://grants.nih.gov/grants/guide/rfa-files/RFA-HL-06-008.html, accessed May 16, 2008.). SCD Scholars programs for the career development of young investigators and Summer-for-Sickle-Cell-Science programs for research training and mentoring of high-school students were retained.

• •

  It requested more interest in joining the Rapid Access to Interventional Development Program of the National Cancer Institute (http://grants.nih.gov/grants/guide/notice-files/NOT-HL-08-111.htm, accessed May 16, 2008), which provides contract services to aid in the translation to the clinic of potential new therapeutic agents originating in academia. This move was to stimulate development of innovative drugs to augment production of the naturally anti-sickling hemoglobin, fetal hemoglobin.

• •

  It promised to develop a new, larger, more diverse and accessible Clinical Trials Research Network, which would subsume the current SCD Clinical Research Network (Request for Applications. Sickle Cell Disease Clinical Research Network, available at: http://grants.nih.gov/grants/guide/rfa-files/RFA-HL-05-006.html, accessed May 16, 2008).

• •

  It promised to expand its support of genomic research in SCD to allow contributions of genotypic and phenotypic data from many investigators and their patients and free access to qualified researchers.

• •

  It said it would undertake a focused effort to develop evidence-based guidelines for the care of individuals with SCD across the life-span that can be used by health-care practitioners throughout the world.

To accomplish its mission, the NHLBI pledged to engage the SCD Association of America, among other groups.

Together, these public and private rearrangements should offer hope to the more than 70,000 patients with SCD in the USA, and the millions around the world, waiting for a cure or for better quality care. The “blood” of US SCD policy should manifest improvements as these changes are enacted, and patients and the public should see great benefit.

Note

1. National Sickle Cell Anemia Control Act of 1972 (Public law no. 92-294).

Wally SmithDivision of Quality Health Care and Centre on Health Disparities, Virginia Commonwealth University, Richmond, Virginia, USA