Analysis of the costs of diagnosing cystic fibrosis with a newborn screening program

Lee, Don S.; Rosenberg, Marjorie A.; Peterson, Andrew R.; Makholm, Linda M.; Hoffman, Gary; Laessig, Ronald H.; Farrell, Philip M.

doi:10.1067/mpd.2003.209

Cited by 49 publications

(41 citation statements)

References 26 publications

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“…In Wisconsin, the number of sweat tests ordered decreased after CF NBS implementation, presumably because of a decrease in sweat tests ordered by the PCP for CF-like symptoms; consequently, the number of facilities offering sweat testing was greatly reduced. 24 In Massachusetts, the number of sweat tests increased when screening began and then diminished somewhat, 81 although PCPs still order a considerable number of tests. CF care centers and NBS programs should work together to predict the number of sweat tests generated by CF NBS and decide where the tests would be performed to plan for appropriate staffing, while recognizing that sweat-test numbers may vary as the screen is implemented.…”

Section: Financing Cf Nbs and Carementioning

confidence: 99%

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Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

et al. 2007

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Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic fibrosis newborn screening, outlines the steps necessary for success based on the experience of existing programs. Planning should begin with a workgroup composed of those who will be responsible for the success of the local program, typically including the state newborn screening program director and cystic fibrosis care center directors. The workgroup must develop a screening algorithm based on program resources and goals including mechanisms available for sample collection, regional demographics, the spectrum of cystic fibrosis disease to be detected, and acceptable failure rates of the screen. The workgroup must also ensure that all necessary guidelines and resources for screening, diagnosis, and care be in place prior to cystic fibrosis newborn screening implementation. These include educational materials for parents and primary care providers; systems for screening and for providing diagnostic testing and counseling for screen-positive infants and their families; and protocols for care of this unique population. This summary explores the benefits and risks of various screening algorithms, including complex situations that can occur involving unclear diagnostic results, and provides guidelines and sample materials for state newborn screening programs to develop and implement high quality screening for cystic fibrosis.

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Section: Financing Cf Nbs and Carementioning

confidence: 99%

“…23 Costs of diagnosis, and possibly treatment (through fewer hospitalizations), are reduced by NBS. 24 Finally, families can benefit from genetic counseling and identification of CF in older siblings as a result of NBS discovery of CF mutations.…”

mentioning

confidence: 99%

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

et al. 2007

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“…Comenta-se que uma maior divulgação da FC para os pediatras, aliada ao acesso facilitado ao diagnóstico por eletrólitos no suor, seria uma alternativa mais plausível. O argumento do custo pode ser questionado, pois um recente trabalho demonstrou que o custo por diagnóstico realizando a triagem neonatal é inferior ao custo por diagnóstico quando esta não é utilizada 30 . Outro trabalho, na França, demonstrou que pacientes com o diagnóstico feito por triagem neonatal tiveram evolução melhor que aqueles com o diagnóstico realizado após o início dos sintomas 31 .…”

Section: Discussionunclassified

Cystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristics of 104 patients and their association with genotype and disease severity

Alvarez¹,

Ribeiro²,

Hessel³

et al. 2004

J Pediatr (Rio J)

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Objective: To identify the clinical, laboratory and radiographic characteristics of the cystic fibrosis patients under care at Universidade Estadual de Campinas (UNICAMP) in the last decade of the twentieth century, and to investigate the association of these characteristics with genotype and severity of the disease as measured by the Shwachman score.Methods: Descriptive, retrospective and cross-sectional study of the patients assisted at UNICAMP hospitals Cystic Fibrosis Clinic from July 1990 to July 2000. Results:One hundred and four patients were studied; 53.8% male; 93.3% Caucasian; 89.4% presented with respiratory symptoms; 59.6% presented with digestive symptoms; 5.8% had meconium ileus; 4.8% had diabetes. The mean age at onset of symptoms was 3 months, and the mean age at diagnosis was 2 years and 4 months. At diagnosis, 69.9 and 56.6% of the patients had weight and height below 10 th percentile, respectively; in 10.6%, sweat chloride was < 60 mEq/l. Staphylococcus aureus was found in 80.2%, Pseudomonas aeruginosa in 76.0%, and Burkholderia cepacia in 5.2%. ∆F508 homozygosis was observed in 18.75%, whereas 62.50% of the patients were ∆F508 heterozygous. A moderate/severe Shwachman score was found in 15.7%. Eighteen patients died in that period (17.3%). The mean age at death was 7 years and 8 months; median survival after diagnosis was 18 years and 4 months. Patients who have at least one ∆F508 mutation have more frequent alterations in fecal fat levels when compared to patients who do not have this mutation (p < 0.05). There were no differences in any parameter between ∆F508 homozygous and heterozygous patients. Conclusions:The clinical and laboratory characteristics of the 104 patients studied were similar to the characteristics described for patients in other countries. Exceptions are the higher age at diagnosis and lower survival. Our results support the recommendation for early diagnosis and the need for more treatment opportunities in the population of cystic fibrosis patients. ResumoObjetivo: Estudar as características clínicas, laboratoriais e radiográficas de pacientes fibrocísticos acompanhados na última década do século 20 na UNICAMP e verificar se existe associação com o genótipo e a gravidade da doença medida pelo escore de Shwachman.Métodos: Estudo descritivo, retrospectivo e de corte transversal dos pacientes fibrocísticos acompanhados na UNICAMP, que tiveram atendimento entre julho de 1990 e julho de 2000.Resultados: Foram estudados 104 pacientes: sexo masculino -53,8%; raça caucasóide -93,3%; comprometimento pulmonar -89,4%, comprometimento digestivo -59,6%; íleo meconial -5,8%; diabetes melito -4,8%; mediana da idade de início dos sintomas -3 meses; mediana da idade no diagnóstico -2 anos e 4 meses; 69,9 e 56,6% apresentavam peso e estatura abaixo do percentil 10, respectivamente, na época do diagnóstico; dosagem de cloro no suor < 60 mEq/l -10,6%; colonização: S. aureus -80,2%, P. aeruginosa -76,0%, B. cepacia -5,2%; ∆F508 homozigoto -18,75%, ∆F508heterozigoto -62,5%; escore de ...

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“…In Wisconsin, the number of sweat tests requisitioned to test for CF is reported to have decreased 50% statewide after screening was implemented (68). A reduction of at least one third in the aggregate number of sweat tests ordered after introduction of newborn screening for CF has been reported from South Australia (Enzo Ranieri, M.D., Women's and Children's Hospital, Adelaide, South Australia, personal communication, May 4, 2004).…”

Section: Failure To Diagnose Cfmentioning

confidence: 99%

“…Data from the Wisconsin screening program indicate that the laboratory cost of IRT screening is $1.50/test, the cost of a single-mutation analysis is $20.50, and the cost of a multiple-mutation test is $50.70 (68). These numbers yield average costs of $2.35 for an IRT/ DNA algorithm with a single mutation and $3.60 for an IRT/ DNA algorithm with a multiple-mutation panel.…”

Section: Costsmentioning

confidence: 99%

Newborn Screening for Cystic Fibrosis: Evaluation of Benefits and Risks and Recommendations for State Newborn Screening Programs—

Grosse¹,

Boyle²,

Botkin³

et al. 2005

The Journal of Pediatrics

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Recommendations and ReportsOctober Disclosure of Relationship CDC, our planners, and our content specialists wish to disclose they have no financial interests or other relationships with the manufacturers of commercial products, suppliers of commercial services, or commercial supporters with the exception of Anne Marie Comeau, Ph.D. She wishes to disclose that she is employed by the University of Massachusetts Medical School, which operates a newborn screening program. This report does not include any discussion of the unlabeled use of a product or a product under investigational use.

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Analysis of the costs of diagnosing cystic fibrosis with a newborn screening program

Cited by 49 publications

References 26 publications

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

Cystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristics of 104 patients and their association with genotype and disease severity

Newborn Screening for Cystic Fibrosis: Evaluation of Benefits and Risks and Recommendations for State Newborn Screening Programs—

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