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Expanded Newborn Screening a Review of the Evidence

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Expanded Newborn Screening a Review of the Evidence NIHR CLAHRC for South Yorkshire Expanded newborn screening A review of the evidence Hilary Burton Sowmiya Moorthie May 2010 www.phgfoundation.org PHG Foundation Team Dr Hilary Burton Programme Director Dr Victoria Fearne Specialist Registrar in Public Health Ms Alison Hall Project Manager Ms Jane Lane Administrator Dr Sowmiya Moorthie Project Co-ordinator Dr Gurdeep Sagoo Epidemiologist Dr Simon Sanderson Principal Associate Authorship Most of the report was written by Hilary Burton and Sowmiya Moorthie. Simon Sanderson led the design and conduct of the systematic review which was carried out by Gurdeep Sagoo and Sowmiya Moorthie. Andrew Morris and Mark Sharrard contributed case histories for the target conditions, and Anita MacDonald and Hazel Rogozinski provided examples of dietary management. The section on economic evaluation was written by Philip Shackley. Alison Hall contributed the chapter on ethical, legal and social aspects. The chapter on the patient viewpoint was written by Steve Hannigan and colleagues at Climb and the Chapter on EU policy on rare disorders was provided by Alastair Kent, Melissa Hillier and David Brown at the Genetic Interest Group. Acknowledgements The Project Team would like to express their thanks for the expert guidance provided by Dr Jim Bonham, Professor Rodney Pollitt, Ms Melanie Downing, Dr Jacqui Calvin, Dr Andrew Morris and Dr Mark Sharrard on the technological, laboratory and clinical perspectives and by the management committee of the CLAHRC-SY research project on newborn screening. Thanks also to Victoria Fearne for her assistance with the systematic review and Jane Lane for administrative support. The review was funded by the National Institute of Health Research – Collaboration for Leadership in Applied Health Research and Care - South Yorkshire (CLAHRC-SY) This report can be downloaded from our website: www.phgfoundation.org Published by PHG Foundation 2 Worts Causeway Cambridge CB1 8RN UK Tel: +44 (0) 1223 740200 Fax: +44 (0) 1223 740892 Second edition, May 2010 © 2010 PHG Foundation ISBN 978-1-907198-03-8 Cover photo: http://www.flickr.com/photos/tamakisono The PHG Foundation is the working name of the Foundation for Genomics and Population Health, an independent charitable organisation (registered in England and Wales, charity No. 1118664 company No. 5823194), which works with partners to achieve better health through the responsible and evidence-based application of biomedical science. Expanded newborn screening - A review of the evidence Contents Executive summary 2 Glossary of acronyms 7 Glossary of terms 8 Chapter 1 Introduction 9 Chapter 2 Tandem mass spectrometry 12 Chapter 3 Clinical and epidemiological overview of the five selected inherited 17 metabolic diseases Chapter 4 Evaluating screening and newborn screening: an overview 42 Chapter 5 Review methods 49 Chapter 6 Summary of findings from Health Technology Assessment reports 53 identified by the systematic review Chapter 7 Evaluation of expanded screening programmes worldwide 63 Chapter 8 Patient perspective 111 Chapter 9 Ethical, legal, and social implications of expanding newborn 119 screening Chapter 10 Expanded newborn screening programme and EU policy towards 128 rare diseases Chapter 11 Expanded newborn screening: discussion and recommendations 131 References 154 Appendices 1 UK National Screening Committee criteria 162 2 Search strategies 1 Executive summary An understanding of rare inherited metabolic diseases requires an extraordinary level of detailed knowledge of their underlying molecular and biochemical pathology in individuals. At the same time their rarity and variability make them very hard to study in population terms to provide the sort of robust epidemiological evidence usually demanded for national screening programmes. This report attempts to bridge the gap between detailed evidence and broad conclusions for policy making. However, it is almost impossible to simplify and summarise the content in a satisfactory way. We recommend that readers with limited time will find it helpful to read the Executive Summary and Chapter 11 in which the five conditions studied are reviewed against the National Screening Committee Criteria. Inherited metabolic disorders (IMDs) are a group of disorders each caused by deficient activity in a single enzyme in a pathway of intermediary metabolism. Interruption of the pathway can lead to accumulation of unwanted or toxic products or, sometimes, a deficiency of products essential for health. These changes typically result in metabolic crisis and death, or damage to many organ systems including the brain, leading to severe learning or physical disability often at an early age in those affected. The abnormal biochemical pathway produces characteristic molecular markers that can be detected by tandem mass spectrometry (MS/MS). MS/MS is an analytical technique that can directly identify and quantify compounds in a sample based on their molecular mass-to- charge ratio. Thus a large number of IMDs can be detected very rapidly and, with automation, as many, or as few different compounds as are of interest can be analysed. MS/MS technology was recently introduced in England to implement newborn screening for the inherited metabolic condition medium chain acyl-CoA dehydrogenase deficiency (MCADD). Once in place, this raised the possibility that screening for other conditions which, because of their rarity might not each individually merit a screening programme, would now be cost effective in relation to the marginal cost of their addition to the existing programme. Whilst there is patient/parent, clinician and laboratory support for such expansion, it is critical that the technology should not drive screening policy but that this should follow a comprehensive assessment of the likely benefits, harms and costs of expanding screening, especially as each metabolic disease has unique characteristics. Funding was, therefore, obtained from the National Institute of Health Research – Collaboration for Leadership in Applied Health Research and Care South Yorkshire (CLAHRC-SY) to support a research project to evaluate screening for five additional diseases using MS/MS in 500,000 newborns over the next two years. As a prelude to the clinical phase of this research, the Foundation for Genomics and Population Health (PHG Foundation) was asked to conduct a systematic review of currently available evidence for expanded newborn screening, as the last Health Technology Assessment (HTA) report, published in 2004, only included data up to 2002. There was clearly a need to examine research and practice over the last seven years, especially as MS/MS screening has now been more widely implemented overseas. 2 Expanded newborn screening - A review of the evidence Aims The aim of the review was to undertake an evidence-based synthesis examining the effectiveness and appropriateness of expanding newborn screening using MS/MS, based on current guidelines for evaluating screening programmes for the following five conditions, which were chosen by UK laboratory and clinical experts. • Maple Syrup Urine Disease (MSUD) • Homocystinuria (pyridoxine unresponsive) • Glutaric Aciduria Type I (GA1) • Isovaleric Acidaemia (IVA) • Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD; includes trifunctional protein deficiency) A central feature of the work was to systematically review the evidence for newborn screening programmes for this panel of five conditions. Findings of the review and main recommendations There is much evidence to support expanding the existing provision of newborn screening to include screening for a wider range of inherited metabolic conditions within the UK, as a means of preventing death and severe disability. The five conditions that are the specific target of this review are all diagnosable through screening and treatable; there is evidence that outcomes are better if infants are diagnosed early and treatment is commenced before any symptoms occur. The strength of international evidence supports the view that an expanded ‘bundle’ of conditions is more cost-effective than restricting testing to only one or two tests, as at present. However, whilst there will be significant benefit to a small number of infants and their families, as well as, in total, to the wider health, social and educational services, the possible harms applied to the entire population of newborns arising from this expanded screening programme must be considered. The most significant harms arise from the diagnostic work- up for those eventually found to be disease free and include those directly impacting on the family (such as anxiety) and ‘knock-on’ effects of the extra work on laboratory, specialist and general paediatric and primary care services. The evidence suggests that such impacts will be manageable but nevertheless there is a need for them to be investigated and quantified. The paragraphs below provide some of the main findings of the review together with an outline of gaps in knowledge that should be filled by a pilot research programme. In particular they include a number of areas where the translation of general evidence available internationally appears to raise specific questions for the UK and NHS environment. Epidemiology: International evidence is that each condition is individually rare (birth prevalence from 1 in 100,000 to 1 in 400,000). However some, such as homocystinuria, may be more common in the UK. Because of the rarity of the disorders, it is not expected that a pilot study would
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