ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.Cytotherapy · 2024Guideline
- A Review of Newborn Screening Programs for Cystic Fibrosis: Are Current Protocols Appropriate for Canada's Diverse Population?Pediatric pulmonology · 2025Article
- The Impact of Cystic Fibrosis Algorithm Changes: A Case Study of Challenges and Strategies.International journal of neonatal screening · 2025Article
- Facilitators and Barriers to Increasing Equity in Cystic Fibrosis Newborn Screening Algorithms.Pediatric pulmonology · 2025Article
- Disparities and therapeutic advances in cystic fibrosis.Pediatric pulmonology · 2024Review
- Racial inequities and rareJournal of clinical & translational endocrinology · 2024Article
- Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task.Diagnostics (Basel, Switzerland) · 2024Review
- Clinical and genetic features of cystic fibrosis in Japan.Journal of human genetics · 2023Article
- Rare Disease, Advocacy and Justice: Intersecting Disparities in Research and Clinical Care.The American journal of bioethics : AJOB · 2023Article
- Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2023Article
- Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States.International journal of neonatal screening · 2022Article
- Left behind: The potential impact of CFTR modulators on racial and ethnic disparities in cystic fibrosis.Paediatric respiratory reviews · 2022Review
- Increasing life expectancy in cystic fibrosis: Advances and challenges.Pediatric pulmonology · 2022Review
- Evaluating Differences in the Disease Experiences of Minority Adults With Cystic Fibrosis.Journal of patient experience · 2022Article
- Enhancing Recruitment and Retention of Minority Populations for Clinical Research in Pulmonary, Critical Care, and Sleep Medicine: An Official American Thoracic Society Research Statement.American journal of respiratory and critical care medicine · 2021Article
- Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report.BMC pediatrics · 2021Article
- Article
- The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?Pediatric research · 2021Review
- The Role of ExtendedInternational journal of neonatal screening · 2020Review
- Regional variations in longitudinal pulmonary function: A comparison of Hispanic and non-Hispanic subjects with cystic fibrosis in the United States.Pediatric pulmonology · 2019Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCystic fibrosis newborn screening (CFNBS) has been offered across the United States since 2010. However, as compared with white patients with CF, CFTR variant identification in nonwhite populations remains inequitable. Utilizing the recent characterization of the nonwhite CF variant spectrum, we examined the effectiveness of current CFNBS molecular panels in identifying affected nonwhite newborns.
methodsBased on a cross-sectional evaluation of genotyping data from the CF Foundation Patient Registry that compared 3,496 nonwhite with 22,206 white CF patients, the current CFNBS algorithms used in the 50 states and the District of Columbia were analyzed. We assessed the percentage of CF patients of Hispanic, African, Asian, and Native American heritage who would not be identified by the molecular panels most commonly used.
resultsCompared with whites, variant detection was significantly lower in Hispanic, black, and Asian newborns (P ≤ 0.0001 each), as well as in Native American newborns (P values ranged from 0.001 to 0.0003), for the most common CFNBS panels.
conclusionThis study provides a perspective on the applicability of current panels to a diverse population and enables CFNBS programs to consider more inclusive test approaches to facilitate diagnosis, timely clinical intervention, and enhanced prognosis for CF patients of nonwhite and mixed ethnicities.Genet Med 19 1, 36-44.
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