CommentaryNewborn Screening for Cystic Fibrosis: A Lesson in Public Health Disparities
Section snippets
Methods for Newborn Screening for CF
In the United States, 3 different methods are used to screen for CF in newborns. In all programs, the first stage of screening entails measurement of immunoreactive trypsinogen (IRT) on dried blood spots.20 An elevated IRT level indicates an increased risk of CF. In some states, the second stage involves a repeat IRT. If the repeat is elevated, the child is referred for a sweat test. In other states, the second stage involves a DNA test for CF mutations on the original blood spot.21 More than
IRT/IRT
There are advantages and disadvantages for each method of screening. All methods that include 2 IRT tests require a second sample. Although this is easier in the 9 US states that routinely require a second sample,28, 29 it is more complicated in states that only require at-risk children to return for a second test. Data reveal that when the second sample is not mandatory, many families do not return30; and for those families who do return, there is moderate anxiety.30, 31, 32 In states that
Conclusion: Methodology Matters
Whether one believes that there are compelling data to justify NBS for CF, its inclusion in the uniform panel and its adoption by the Secretary's Advisory Committee have led to its adoption into the NBS panels in most states. Like most public health screening programs, the decision about which method to use for CF NBS involves trade-offs between sensitivity and specificity, between cost and uptake. Mandatory screening ensures that it is provided to virtually all infants. We now need to make
References (74)
- et al.
Policy issues for expanding newborn screening programs: the cystic fibrosis newborn screening experience in the United States
J Pediatr
(2005) - et al.
A survey of newborn screening for cystic fibrosis in Europe
J Cystic Fibrosis
(2007) - et al.
Review of Outcomes of neonatal screening for cystic fibrosis versus non-screening in Europe
J Pediatr
(2005) - et al.
Balancing benefits and risks for cystic fibrosis newborn screening: implications for policy decisions
J Pediatr
(2005) - et al.
Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies
J Pediatr
(1995) - et al.
Screening for cystic fibrosis: feasibility of molecular genetic analysis of dried blood specimens
Biochem Med Metabolic Biol
(1991) - et al.
Cystic fibrosis mutations and genotype-pulmonary phenotype analysis
J Cystic Fibrosis
(2006) - et al.
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Genet Med
(2004) - et al.
Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes
J Pediatr
(2005) - et al.
Newborn screening for CF in a regional paediatric centre: the psychosocial effects of false-positive IRT results on parents
J Cystic Fibrosis
(2007)
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
Genet Med
Communications systems and their models: Massachusetts parent compliance with recommended specialty care after positive cystic fibrosis newborn screening result
J Pediatr
Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens—Implications for newborn screening
Genet Med
Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis
J Pediatr
Cost-utility analyses of clinical preventive services: published ratios, 1976-1997
Am J Prevent Med
Economic implications of newborn screening for cystic fibrosis: a cost of illness retrospective cohort study
Lancet
Analysis of the Costs of Diagnosing Cystic Fibrosis with a Newborn Screening Program
J Pediatr
U.S. newborn screening policy dilemmas for the twenty-first century
Molec Genet Metab
Minutes
Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs
MMWR
March of DimesNewborn Screening (United States). Cystic Fibrosis
Diagnosis of cystic fibrosis after newborn screening: the Australasian experience-twenty years and five million babies later: a consensus statement from the Australasian Paediatric Respiratory Group
Pediatr Pulmonol
Cystic fibrosis screening in newborns: results from existing programs
Curr Opin Pulmonary Med
Ethical issues in cystic fibrosis newborn screening: from data to public health policy
Curr Opin Pulmonary Med
Screening for cystic fibrosis: the practice and the debate
Eur J Pediatr
Accurso FJUpdate on newborn screening for cystic fibrosis
Curr Opin Pulmonary Med
Newborn screening technology: proceed with caution
Pediatrics
Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods
Pediatrics
Newborn screening for cystic fibrosis: do we need a second IRT?
Arch Dis Childhood
Comparison of two different protocols of neonatal screening for cystic fibrosis
Clin Genet
Methodology matters
Am J Public Health
Dried-blood spot screening for cystic fibrosis in the newborn
Lancet
False-negative results in screening programmes: systematic review of impact and implications
Health Technol Assess (Winchester, England)
False-negative primary neonatal thyroid screening: the need for clinical vigilance and secondary screening
J Med Screening
Genetic testing for cystic fibrosis
Arch Intern Med
Delayed diagnosis of cystic fibrosis in children from ethnic minorities
Lancet
Cited by (48)
Aiming to Improve Equity in Pulmonary Health: Cystic Fibrosis
2023, Clinics in Chest MedicineCystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020
2023, Journal of Cystic FibrosisNewborn Screening
2023, Avery's Diseases of the NewbornDisparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening
2023, Journal of Cystic FibrosisCitation Excerpt :Those categorized as Black/African American, American Indian/ Native Alaskan, Asian, and/or other race groups, and/or Hispanic ethnicity less often have F508del [19,21], have different distributions of CFTR variants [21–23] and have more rare variants [19–21]. Concern that inequitable detection of CFTR variants would create diagnostic disparity was raised during US NBS implementation [20], and decreased CFTR variant detection in Hispanic infants with CF was found in Illinois [24]. In 2019, a parent contacted the Cystic Fibrosis Foundation, asking if disparities in timeliness of diagnosis might affect Black/ African American babies.
This study was funded by NIH grant R01 HD043455-01. The author declares no conflict of interest.