MCADD
Cost-effectiveness analysis of newborn screening for medium chain acyl CoA dehydrogenase (MCAD) deficiency to inform screening policy: a national collaborative study
| Dates: | 2004-2010 |
|---|---|
| Funding: | Department of Health |
| Collaborators: | Institute of Child Health |
| Information: | Sarah Wordsworth and José Leal |
Although rare, inborn errors of metabolism represent a potentially preventable cause of death and disability. Medium chain acyl CoA dehydrogenase deficiency (MCADD) is one of the most common of these disorders. The condition can be detected in newborns using tandem mass spectrometry and the blood spot collected for Phenylketonuria (PKU) screening at 5-8 days of age.
The health economic analysis explored the health outcomes (life years) and health service costs associated with a universal neonatal screening policy for MCADD in addition to the current PKU screening programme. The costs include laboratory screening and diagnostic tests and clinical follow up costs such as outpatient visits to the metabolic paediatrician. Data were also collected on lifetime care costs for children who survive with a disability and need special education and/or local authority care. Hospital annual costs associated with severe disability were estimated from the Oxford Record Linkage Study. Expert opinion on model parameters for which there was no evidence available was collected. Multi-parameter evidence synthesis (MPES) was used to estimate parameters such as the prevalence of MCADD, and sensitivity of the screening programme.
See also expert opinion and MPES.
Publications
Leal, J, Wordsworth, S, Oerton, J, Khalid, JM, and Dezateux, C (2014). Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence. J Clin Epidemiol, 67(10):1131-8.
Leal, J, Ades, AE, Wordsworth, S, and Dezateux, C (2014). Regional differences in the frequency of the c.985A>G ACADM mutation: findings from a meta-regression of genotyping and screening studies. Clin Genet, 85(3):253-9.
Leal, J, Wordsworth, S, Gray, A, Oerton, J, Philips, P, and Dezateux, D (2006). Policy making for rare childhood diseases. Eur J Health Econ 7(1):S58