ABSTRACT
BACKGROUND: Previous cost-effectiveness studies using data from the literature showed that newborn screening for cystic fibrosis (NBSCF) is a good economic option with positive health effects and longer survival. METHODS: We used primary data to compare cost-effectiveness of four screening strategies for NBSCF, i.e. immunoreactive trypsinogen-testing followed by pancreatitis-associated protein-testing (IRT-PAP), IRT-DNA, IRT-DNA-sequencing, and IRT-PAP-DNA-sequencing, each compared to no-screening. A previously developed decision analysis model for NBSCF was fed with model parameters mainly based on a study evaluating two novel screening strategies among 145,499 newborns in The Netherlands. RESULTS: The four screening strategies had cost-effectiveness ratios varying from 23,600 to 29,200 per life-year gained. IRT-PAP had the most favourable cost-effectiveness ratio. Additional life-years can be gained by IRT-DNA but against higher costs. When treatment costs reduce with 5% due to early diagnosis, screening will lead to financial savings. CONCLUSION: NBSCF is as an economically justifiable public health initiative. Of the four strategies tested IRT-PAP is the most economic and this finding should be included in any decision making model, when considering implementation of newborn screening for CF.
Subject(s)
Antigens, Neoplasm , Biomarkers, Tumor , Cystic Fibrosis Transmembrane Conductance Regulator , Cystic Fibrosis , Lectins, C-Type , Neonatal Screening , Trypsinogen , Antigens, Neoplasm/analysis , Antigens, Neoplasm/genetics , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , Cost-Benefit Analysis , Cystic Fibrosis/diagnosis , Cystic Fibrosis/economics , Cystic Fibrosis/genetics , Cystic Fibrosis Transmembrane Conductance Regulator/analysis , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Decision Support Techniques , Genetic Testing/economics , Genetic Testing/methods , Humans , Infant, Newborn , Lectins, C-Type/analysis , Lectins, C-Type/genetics , Mutation , Neonatal Screening/economics , Neonatal Screening/organization & administration , Netherlands , Pancreatitis-Associated Proteins , Sensitivity and Specificity , Trypsinogen/analysis , Trypsinogen/geneticsABSTRACT
BACKGROUND: Early diagnosis through newborn screening (NBS) and early treatment of cystic fibrosis (CF) do lead to better prognosis. In the Netherlands, the median age for a clinical diagnosis is six months, and after newborn screening this is 30 days. It is unknown if being diagnosed at the age of six months or before two months leads to a clinically relevant difference of the clinical condition at the time of diagnosis. AIM: The aim of this study is to assess the differences in clinical parameters at diagnosis between children with CF identified by newborn screening (NBS) or by clinical diagnosis (CD) in the Netherlands. METHODS: From July 1st, 2007 to January 1st, 2012 all newly diagnosed CF patients were reported to the Dutch Paediatric Surveillance Unit (DPSU). All paediatricians received a questionnaire to collect data on mutations and clinical condition at diagnosis. Non-classical CF was excluded from the analysis on clinical condition. RESULTS: 204 new CF diagnoses were reported to the DPSU, 33 were reported twice and three had no CF after further testing. 127 questionnaires were returned (76%); 85 children were diagnosed because of clinical symptoms, 40 after NBS and two because of a positive family history. The median age at diagnosis was 34 weeks for a clinical diagnosis and 3 weeks after NBS. Non-classical CF was more prevalent in the NBS group (6 clinical, 14 NBS), mostly F508del/R117H7T (12). Compared to the NBS group, significantly more patients in the CD group showed failure to thrive, respiratory symptoms, and hospitalizations. 62% of the CD group showed abnormal signs at physical examination compared to 4% of the NBS group. CONCLUSION: At the time of diagnosis infants detected after NBS are in a significantly better condition than after a clinical diagnosis. Growth retardation is already seen when after NBS the diagnosis is confirmed, but NBS leads to a diagnosis before respiratory symptoms have developed.
Subject(s)
Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/diagnosis , Cystic Fibrosis/genetics , Genotype , Neonatal Screening , Cystic Fibrosis/epidemiology , Gene Frequency , Humans , Infant , Infant, Newborn , Mutation , Neonatal Screening/methods , Phenotype , Prevalence , RegistriesABSTRACT
BACKGROUND: False-positive screening results in newborn screening for cystic fibrosis may lead to parental stress, family relationship problems and a changed perception of the child's health. AIM OF THE STUDY: To evaluate whether parental anxiety induced by a false positive screening result disappears after six months and to assess whether a special program to inform parents prior and during the screening procedure prevents or diminishes parental anxiety. METHODS: Prospective controlled study assessing the long term effects of false-positive test results of newborn screening for cystic fibrosis (NBSCF) on parental anxiety and stress by means of questionnaires sent to parents of 106 infants with a false positive newborn screening test and 318 randomly selected infants with a true negative screening test. Additionally we interviewed 25 parents of the false-positive group. RESULTS: Parents showed negative feelings after being informed about the positive screening test result. After confirmation that their child was healthy and not suffering from CF, most parents felt reassured. After six months no difference in anxiety levels between both groups of parents was found. Well-informed parents in the false positive group experienced less stress. CONCLUSIONS: A positive screening test result induces parental anxiety but false positive test results in NBSCF do not seem to cause long-term anxiety. Well-informed parents show lower stress and anxiety levels.
