Dataset Information

Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.

ABSTRACT: BACKGROUND:A decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukodystrophy (X-ALD) into an existing tandem mass spectrometry based newborn screening programme. The model was based upon the UK National Health Service (NHS) Newborn Blood Spot Screening Programme and a public service perspective was used with a lifetime horizon. The model structure and parameterisation were based upon literature reviews and expert clinical judgment. Outcomes included health, social care and education costs and quality adjusted life years (QALYs). The model assessed screening of boys only and evaluated the impact of improved outcomes from hematopoietic stem cell transplantation in patients with cerebral childhood X-ALD (CCALD). Threshold analyses were used to examine the potential impact of utility decrements for non-CCALD patients identified by screening. RESULTS:It is estimated that screening 780,000 newborns annually will identify 18 (95%CI 12, 27) boys with X-ALD, of whom 10 (95% CI 6, 15) will develop CCALD. It is estimated that screening may detect 7 (95% CI 3, 12) children with other peroxisomal disorders who may also have arisen symptomatically. If results for girls are returned an additional 17 (95% CI 12, 25) cases of X-ALD will be identified. The programme is estimated to cost an additional £402,000 (95% CI £399-407,000) with savings in lifetime health, social care and education costs leading to an overall discounted cost saving of £3.04 (95% CI £5.69, £1.19) million per year. Patients with CCALD are estimated to gain 8.5 discounted QALYs each giving an overall programme benefit of 82 (95% CI 43, 139) QALYs. CONCLUSION:Including screening of boys for X-ALD into an existing tandem mass spectrometry based newborn screening programme is projected to reduce lifetime costs and improve outcomes for those with CCALD. The potential disbenefit to those identified with non-CCALD conditions would need to be substantial in order to outweigh the benefit to those with CCALD. Further evidence is required on the potential QALY impact of early diagnosis both for non-CCALD X-ALD and other peroxisomal disorders. The favourable economic results are driven by estimated reductions in the social care and education costs.

SUBMITTER: Bessey A

PROVIDER: S-EPMC6182830 | biostudies-other | 2018 Oct

REPOSITORIES: biostudies-other

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Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.

Bessey Alice A Chilcott James B JB Leaviss Joanna J Sutton Anthea A

Orphanet journal of rare diseases 20181011 1

<h4>Background</h4>A decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukodystrophy (X-ALD) into an existing tandem mass spectrometry based newborn screening programme. The model was based upon the UK National Health Service (NHS) Newborn Blood Spot Screening Programme and a public service perspective was used with a lifetime horizon. The model structure and parameterisation were based upon literature reviews and expert clinical judgment. ...[more]

PMID: 30309370

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Project description:Importance:X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal genetic disorder in which an accumulation of very long-chain fatty acids leads to inflammatory demyelination in the central nervous system and to adrenal cortex atrophy. In 2016, X-ALD was added to the US Recommended Uniform Screening Panel. Objective:To evaluate the performance of a single-tier newborn screening assay for X-ALD in North Carolina. Design, Setting, and Participants:This diagnostic screening study was of all newborn dried blood spot specimens received in the North Carolina State Laboratory of Public Health between January 2 and June 1, 2018, excluding specimens of insufficient quantity or quality. A total of 52?301 specimens were screened for X-ALD using negative ionization high-performance liquid chromatography tandem mass spectrometry to measure C24:0- and C26:0-lysophosphatidylcholine concentrations. Sanger sequencing of the adenosine triphosphate-binding cassette subfamily D member 1 (ABCD1) gene was performed on screen-positive specimens. Exposures:A medical and family history, newborn physical examination, sequencing of ABCD1 on dried blood spot samples, and plasma analysis of very long-chain fatty acids were obtained for all infants with screen-positive results. Main Outcomes and Measures:The prevalence of X-ALD in North Carolina and the positive predictive value and false-positive rate for the first-tier assay were determined. Results:Of 52?301 infants tested (47.8% female, 50.6% male, and 1.7% other or unknown sex), 12 received screen-positive results. Of these 12 infants, 8 were confirmed with a genetic disorder: 3 male infants with X-ALD, 3 X-ALD-heterozygous female infants, 1 female infant with a peroxisome biogenesis disorder, and 1 female infant with Aicardi-Goutières syndrome. Four infants were initially classified as having false-positives results, including 3 female infants who were deemed unaffected and 1 male infant with indeterminate results on confirmatory testing. The positive predictive value for X-ALD or other genetic disorders for the first-tier assay was 67%, with a false-positive rate of 0.0057%. Conclusions and Relevance:This newborn screening pilot study reported results on 2 lysophosphatidylcholine analytes, identifying 3 male infants with X-ALD, 3 X-ALD-heterozygous female infants, and 3 infants with other disorders associated with increased very long-chain fatty acids. These results showed successful implementation in a public health program with minimal risk to the population. The findings will support other state laboratories planning to implement newborn screening for X-ALD and related disorders.

Project description:ObjectivesHearing loss is one of the most prevalent congenital disorders among children. Many countries have implemented universal newborn hearing screening (UNHS) for the early diagnosis and treatment of hearing loss. Despite widespread implementation, the value for money of UNHS is unclear due to lack of cost and outcomes data from rigorous study designs. The objective of this research is to conduct a within-study cost-effectiveness analysis of UNHS compared with targeted screening (targeting children with risk factors of hearing loss) from the Australian healthcare system perspective. This evaluation is the first economic evaluation to assess the cost-effectiveness of UNHS compared to targeted screening using real-world data from a natural experiment.DesignThe evaluation assumed the Australian healthcare system perspective and considered a time horizon of 5 years. Utilities were estimated using responses to the Health Utilities Index Mark III. Screening costs were estimated based on the Victorian Infant Hearing Screening Program. Ongoing costs were estimated based on administrative data, while external data sources were used to estimate costs related to hearing services. Missing data were handled using the multiple imputation method. Outcome measures included quality-adjusted life years (QALYs) and four language and communication-related outcomes: Peabody Picture Vocabulary Test, Wechsler Nonverbal Scale of Ability, Progressive Achievement Test, and comprehensive, expressive, and total language scores based on the Preschool Language Scale.ResultsOn average, the UNHS cost an extra Australian dollar (A$)22,000 per diagnosed child and was associated with 0.45 more QALYs per diagnosed child compared with targeted screening to 5 years, resulting in an incremental cost-effectiveness ratio (ICER) of A$48,000 per QALY gained. The ICERs for language outcomes lay between A$3,900 (for expressive language score) and A$83,500 per one-point improvement in language score (for Wechsler Nonverbal Scale of Ability). UNHS had a 69% probability of being more cost-effective compared to targeted screening at a willingness to pay threshold of A$60,000 per QALY gained. ICERs were most sensitive to the screening costs.ConclusionsThe evaluation demonstrated the usefulness of a within-study economic evaluation to understand the value for money of the UNHS program in the Australian context. Findings from this evaluation suggested that screening costs were the key driver of cost-effectiveness results. Most outcomes were not significantly different between UNHS and targeted screening groups. The ICER may be overestimated due to the short follow-up period. Further research is warranted to include long-term resource use and outcome data, late diagnosis, transition and remission between severity levels, and timing of diagnosis and treatment.

Dataset Information

Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.

Publications

Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.

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