Clinical-effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review

Abstract

ReuseUnless indicated otherwise, fulltext items are protected by copyright with all rights reserved. The copyright exception in section 29 of the Copyright, Designs and Patents Act 1988 allows the making of a single copy solely for the purpose of non-commercial research or private study within the limits of fair dealing. The publisher or other rights-holder may allow further reproduction and re-use of this version -refer to the White Rose Research Online record for this item. Where records identify the publisher as the copyright holder, users can verify any specific terms of use on the publisher's website. TakedownIf you consider content in White Rose Research Online to be in breach of UK law, please notify us by emailing eprints@whiterose.ac.uk including the URL of the record and the reason for the withdrawal request. Technology Assessment Reports ForewordThe following abstracts are from publications produced by the Health Technology Assessment Programme in the United Kingdom. This is a national program of government-funded research that publishes over 40 reports every year. The overall aim of the program is to ensure that high-quality research information on the costs, effectiveness, and broader impact of health technologies is produced in the most efficient way for those who use, manage, and work in the National Health Service in England and Wales. Access to the full reports can be made free of charge on the HTA website http://www.ncchta.org http://www.ncchta.org A fully searchable CD-ROM containing the full text of all HTA reports is also available via the HTA website free of charge worldwide. Printed versions of the reports cost £20 (plus post and packing: free in the UK; £2 in Europe; £3 for Rest of the world). See website for details. Objectives: This study aimed to determine the costeffectiveness of influenza vaccination in people 65-74 years of age in the absence of comorbidity. Design: Primary research: randomized controlled trial. Setting: Primary care. Participants: People without risk factors for influenza or contraindications to vaccination were identified from twenty general practitioner (GP) practices in Liverpool in September 1999 and invited to participate in the study. There were 5,875 of 9,727 (60.4 percent) people 65-74 years of age identified as potentially eligible, and of these, 729 (12 percent) were randomized. Intervention: Participants were randomized to receive either influenza vaccine or placebo (ratio, 3:1), with all individuals receiving pneumococcal vaccine unless administered in the previous 10 years. Of the 729 people randomized, 552 received vaccine and 177 received placebo; 726 individuals were administered pneumococcal vaccine. Main outcome measures and methodology of economic evaluation: GP attendance with influenza-like illness (ILI) or pneumonia (primary outcome measure); or any respiratory symptoms; hospitalization with a respiratory illness; death; participant self-reported ILI; quality of life (QoL) measures at 2, 4, and 6 months poststudy vaccination; adverse reaction...

Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan

“…Early institution of high-glucose infusion, a low-fat diet, and avoidance of fasting can prevent the occurrence of metabolic decompensation (Baruteau et al 2012). Therefore, MS/MS newborn screening (NBS) has been shown to improve the outcome of patients, and this screening is also cost effective (Pandor et al 2004). Currently, different sets of FAO disorders are screened in different countries.…”

Neonatal Screening: Some Ethical Issues of Expanding Spectrum for Genetically Determined Diseases

“…Открытым остается и вопрос о необходимости автома-тического включения в список для скрининга наследствен-ных нарушений метаболизма аминокислот, органических кислот и дефектов митохондриального ␤-окисления жир-ных кислот, определяемых методом ТМС [11,12]. В насто-ящее время не существует достаточно обоснованного под-хода к ранжированию данных наследственных болезней обмена на основании их распространенности и остроты проявлений, не всегда учитываются этические проблемы, возникающие в результате скрининга для выявления состояний, которые могут никогда не развиться в заболе-вания, а также нарушений, для которых пока не разрабо-тано лечение.…”

Genes, Medicine and Society: From Paediatrics to Genetic Counselling and Beyond

“…Conversely, a novel DNA variant or polymorphism may be mistakenly regarded as pathogenic by medical staff not familiar with genetics. Biotechnology is rapidly evolving and the sensitivity of the various methodologies of mutation detections may vary with different techniques (31,32).…”