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. 2018 Oct 11;13(1):179.
doi: 10.1186/s13023-018-0921-4.

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

Alice Bessey  1 , James B Chilcott  2 , Joanna Leaviss  2 , Anthea Sutton  2
Affiliations

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

Alice Bessey et al. Orphanet J Rare Dis. .

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.

Keywords: Adrenoleukodystrophy; Cost-benefit analysis; Cost-effectiveness analysis; Decision trees; Economic analysis; Hematopoietic stem cell transplantation; Neonatal screening; Newborn screening.

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Conflict of interest statement

Ethics approval and consent to participate

Not applicable.

Consent for publication

Not applicable.

Competing interests

The submitted work was supported by ALD Life and Bluebird Bio. AB has received reimbursement of travel expenses from ALD Life, JC has received reimbursement of conference and travel expenses from Bluebird Bio. None of the authors has non-financial interests that may be relevant to the submitted work.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
X-ALD Screening Decision Tree
Fig. 2
Fig. 2
Forest Plot of Incidence Values. The black horizontal line represents the mean incidence and the black vertical line the 95% confidence interval
Fig. 3
Fig. 3
Cost-Effectiveness Plane. Each of the blue diamonds represents one of the 100,000 model runs. Costs in () represent model runs where screening is estimated to be cost saving
See this image and copyright information in PMC

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