Addressing Sickle Cell Disease A Strategic Plan and Blueprint for Action (2020) / Chapter Skim
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3 Screening, Registries, and Surveillance
3 Screening, Registries, and Surveillance
Pages 81-122
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From page 81... ...
Chapter Summary • While newborn screening is mandated in all 50 states, the District of Columbia, Puerto Rico, Guam, and the U.S. Virgin Islands, it is ineffec tive in capturing individuals living with sickle cell disease (SCD)
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From page 82... ...
This chapter focuses on efforts to ethically and efficiently collect reliable, high-utility data from whole populations or representative samples thereof and to use those data in improving health and health outcomes. Such data may have been originally gathered for other purposes (as with newborn screening [NBS]
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From page 83... ...
Public health surveillance of SCD in the United States is typically conducted by state governments. SCREENING FOR SCD AND SCT Screening has long been recognized as an important tool for early disease detection, and as technological advances have improved the ability to screen for an increasing number of diseases, screening rationales and criteria have also evolved.
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From page 84... ...
. More specifically, newer adaptations of the 1960s era Wilson and Jungner criteria take into account the effects on family members and parents, the importance of screening for rare diseases despite unfavorable cost–benefit analyses, the need for confidentiality concerning trait/disease status, and genetic counseling (Grosse et al., 2010)
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From page 85... ...
. IEF, electrophoresis, and HPLC quantify hemoglobin and so can discriminate, making them the primary methods for NBS programs and confirmatory testing.
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From page 86... ...
. Today, NBS has been highly successful in most states, providing critical information to parents, pediatricians, and pediatric hematology care providers that enables young children to avoid most of the severe complications, which are major contributors to infant and childhood mortality (AAP Newborn Screening Task Force, 2000)
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From page 87... ...
Unfortunately, the transfer of knowledge from a state NBS program, parents, or providers to the teens and young adults who ultimately need it to make informed life choices is not systematic. Promoting knowledge of SCT carrier status in young adults should be a high priority, but no states are currently known to track the health status or reproductive outcomes of those with SCT.
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From page 88... ...
. The women who refuse screening may be basing this choice on the fear of being rejected by their partner, their religious beliefs, or the stigma surrounding discussing SCT status openly (Asgharian et al., 2003)
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From page 89... ...
Proponents of mandatory military screening argue that knowledge of SCT status could lead recruits to change their behavior; an aware trainee would be more likely to end a workout early rather than persisting through the pain (Jones et al., 1970; Webber and Witkop, 2014)
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From page 90... ...
. Invasions of genetic privacy are also possible, given that mandatory testing of athletes reveals their genetic status and information on the carrier status of their parents and relatives (Jordan et al., 2011)
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From page 91... ...
. COMMUNICATING SCREENING RESULTS Despite the importance of effectively screening and following up on SCD and SCT screening results, there is a notable lack of guidelines and policies advising providers on how to effectively communicate disease or carrier status to affected people or their parents.
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From page 92... ...
. One study of NBS programs found that only 40 percent and 37 percent of families were directly informed of their child's SCD or SCT status, respectively (Kavanagh et al., 2008)
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From page 93... ...
Furthermore, 98–100 percent of babies who screened positive for SCD received followup within 1 year. All six NBS programs had a standardized protocol for informing parents of their children's SCT status, and five programs had a required turnaround time (1–6 weeks)
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From page 94... ...
PCP, public health nurse Georgia (MCG) PCP, public health nurse Hawaii PCP,a heme.,a public health PCP,a hospitalb RN,a family,a hospital,b Hawaii Community Genetics Idaho PCP,a heme.,a hospitalb PCP,a hospitalb Illinois PCP, sickle cell org.
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From page 95... ...
New York PCP, heme., public health RN, PCP, hospital hospital North Carolina PCP, sickle cell org., sickle PCP,b sickle cell org.,b sickle cell educator cell educator North Dakota PCP,a heme.a PCP,a heme.a Ohio PCP, heme., hospital PCP, hospital, sickle cell org Oklahoma PCP, heme., hospital, sickle PCP, family, sickle cell org cell org. Oregon PCP, heme., hospital PCP, hospital Pennsylvania PCP, heme., hospital PCPa, heme.a Rhode Island PCP, heme.
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From page 96... ...
. A study conducted in Michigan to examine the prevalence of genetic counseling provided by PCPs found that the physicians surveyed reported that they were more likely to provide some genetic counseling to parents of children who are cystic fibrosis carriers (CFCs)
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From page 97... ...
. Genetic counseling offers a missed opportunity for educating individuals with SCT and their families and providers about the benefits of counseling and standardizing referrals to counselors.
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From page 98... ...
The committee was also unable to find any known long-term follow-up of health conditions or outcomes for those with positive SCT status in the United States, despite growing evidence of an increased risk for certain chronic health conditions (Alvarez, 2017; Alvarez et al., 2015; Elliott and Bruner, 2019; Naik and Haywood, 2015; Naik et al., 2018; Shetty and Matrana, 2014)
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From page 99... ...
. High-quality care provided early genetic counseling, timely reporting of results, screening for immigrants, and penicillin prophylaxis.
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From page 100... ...
. NHLBI currently supports the Sickle Cell Disease Implementation
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From page 101... ...
In 2019, ASH launched the Sickle Cell Disease Clinical Trials Network, which provides a framework for finding and categorizing patient cohorts for clinical trials, placing trial sponsors with sites, and recruiting eligible patients. It collects information from the RC Data Hub to assist with identifying areas of research and treatment that could benefit from additional data.
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From page 102... ...
Registrants are monitored by staff at clinical sites, which ensures that the patient data are entered into the system accurately and in a timely manner. The registry receives support from private funding, including the Cystic Fibrosis Foundation, and other sources (CFF, 2018)
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From page 103... ...
Rare disease surveillance is increasingly seen as a necessary tool to understand the complications, comorbidities, uptake of treatments, and health outcomes for diseases that may otherwise be difficult to track, given their small population sizes and widely dispersed care. In 2007 the American Society of Pediatric Hematology/Oncology convened the Sickle Cell Disease Summit, a meeting of stakeholders in hemoglobinopathies, to settle on a unified approach to health care and research disparities for SCD.
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From page 104... ...
It was originally intended to be developed and validated over 4 years, but funding was ultimately provided for only 2 years. Although some states had already begun to gather data on their Medicaid populations or to follow NBS-diagnosed cases of SCD, RuSH was the first large-scale attempt to conduct public health surveillance for SCD in the United States.
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From page 105... ...
The Sickle Cell Disease and Other Heritable Blood Disorders Research, Surveillance, Prevention, and Treatment Act of 2018 explicitly authorizes grants to conduct public health surveillance for SCD and other heritable blood disorders. Appropriations have not yet been made, however.
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From page 106... ...
. Despite the benefits of PGD and genetic counseling discussed in earlier sections, these options need to
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From page 107... ...
SCREENING, REGISTRIES, AND SURVEILLANCE 107 BOX 3-1 A Patient's Voice: A Changing Perspective Servio Astacio was born in the Dominican Republic and diagnosed with sickle cell disease (SCD) when his parents noticed the yellow tone of his skin and sporadic episodes of rigidness shortly after his birth.
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From page 108... ...
In recent years, individuals living with SCD in the United States have been entangled in the controversy around pain management and opiates, with the added complication that pain reported by those perceived as African Americans has been taken less seriously than when reported by other patients (Hoffman et al., 2016)
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From page 109... ...
This became a public issue in the early 1970s, when some states required that African Americans be tested to identify both carriers and SCD-positive individuals. In response, Congress enacted the National Sickle Cell Anemia Control Act in 1972, which withheld federal funds from states that mandated testing.
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From page 110... ...
, these principles have special resonance for African Americans, who suffer a disproportionate burden of SCD. The movement for personalized medicine in the era of big data suggests that in the future it will be increasingly more difficult to distinguish regular clinical care from research.
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From page 111... ...
Recognizing that SCD research and treatment lags behind research for other chronic illnesses, the Sickle Cell Disease and Other Heritable Blood Disorders Research, Surveillance, Prevention, and Treatment Act of 20184 reauthorized an SCD prevention and treatment program and provides grants for research, surveillance, prevention, and treatment of heritable blood disorders. As of the development of this report, the section of the legislation related to data collection on certain blood disorders had not yet been funded by Congress.
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From page 112... ...
Conclusion 3-2: Communication of SCD results to parents/ guardians, the pediatrician of record, a referred pediatric hematologist, and other relevant care providers as well as follow-up once diagnosed are inconsistent across state NBS programs.
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From page 113... ...
These data can be used to provide needed information on sickle cell disease health care services usage and costs in the short term. Recommendation 3-4: The Health Resources and Services Administra tion should work with states to standardize the communication of and use of newborn screening positive results in genetic counseling and should create a mechanism for communicating this information across the life span and ensuring access to needed support and services.
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From page 114... ...
2019. Newborn screening for sickle cell disease using point-of-care testing in low-income set ting.
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From page 115... ...
2000. Update: Newborn screening for sickle cell disease -- California, Illinois, and New York, 1998.
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From page 116... ...
2014. Newborn screening for sickle cell disease: Technical and legal aspects of a German pilot study with 38,220 participants.
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From page 117... ...
2008. Communi cation of positive newborn screening results for sickle cell disease and sickle cell trait: Variation across states.
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From page 118... ...
2009. Maternal knowledge and attitudes about newborn screening for sickle cell disease and cystic fibrosis.
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From page 119... ...
2007. Establishing a database of people with sickle cell disease (Comprehensive Sickle Cell Centers Collaborative Data Project, C-Data)
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2012. Newborn screening for sickle cell disease: Whose reproductive benefit?
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From page 121... ...
1988. Newborn screening for sickle cell disease: Effect on mortality.
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