An assessment of screening strategies for fragile X syndrome in the UK

Abstract

Health Technology Assessment is indexed in Index Medicus/MEDLINE and Excerpta Medica/ EMBASE. Copies of the Executive Summaries are available from the NCCHTA website (see opposite). NHS R&D HTA Programme T he NHS R&D Health Technology Assessment (HTA) Programme was set up in 1993 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 provide care in the NHS. Initially, six HTA panels (pharmaceuticals, acute sector, primary and community care, diagnostics and imaging, population screening, methodology) helped to set the research priorities for the HTA Programme. However, during the past few years there have been a number of changes in and around NHS R&D, such as the establishment of the National Institute for Clinical Excellence (NICE) and the creation of three new research programmes: Service Delivery and Organisation (SDO); New and Emerging Applications of Technology (NEAT); and the Methodology Programme. This has meant that the HTA panels can now focus more explicitly on health technologies ('health technologies' are broadly defined to include all interventions used to promote health, prevent and treat disease, and improve rehabilitation and long term care) rather than settings of care. Therefore the panel structure has been redefined and replaced by three new panels: Pharmaceuticals; Therapeutic Procedures (including devices and operations); and Diagnostic Technologies and Screening. The HTA Programme will continue to commission both primary and secondary research. The HTA Commissioning Board, supported by the National Coordinating Centre for Health Technology Assessment (NCCHTA), will consider and advise the Programme Director on the best research projects to pursue in order to address the research priorities identified by the three HTA panels. The research reported in this monograph was funded as project number 93/34/04. The views expressed in this publication are those of the authors and not necessarily those of the HTA Programme or the Department of Health. The editors wish to emphasise that funding and publication of this research by the NHS should not be taken as implicit support for the recommendations for policy contained herein. In particular, policy options in the area of screening will be considered by the National Screening Committee. This Committee, chaired by the Chief Medical Officer, will take into account the views expressed here, further available evidence and other relevant considerations. Criteria for inclusion in the HTA monograph series Reports are published in the HTA monograph series if (1) they have resulted from work commissioned for the HTA Programme, and (2) they are of a sufficiently high scientific quality as assessed by the referees and editors. Reviews in Health Technology Assessment are termed 'systematic' when the account of the search, appraisal and synthesis methods (to minimise biases and random errors) would, in theory, permit the replication ...

A systematic review of population screening for fragile X syndrome

“…73 In addition, three Health Technology Assessment (HTA) reviews have examined the feasibility and acceptability (based on uptake) of cascade screening and population-based screening. 38,74,75 These extensive reviews have addressed mutation prevalence, risk of FMR1 mutation expansions, uptake of testing, and modeling of economic costs.…”

Attitudes toward prenatal screening and testing for Fragile X

“…1 The majority of males exhibit characteristic physical features and significant intellectual disability and behavioral problems, and are unable to live independently. 2,3 Affected females exhibit a similar but usually less severe phenotype.…”

Screening for Fragile X Syndrome: Parent attitudes and perspectives

“…21 Given the prevalence rates of FXS and the availability of accurate and diagnostic genetic testing that could be used to detect an abnormal fragile X gene before conception, prenatally, or in newborns, discussions have begun weighing the costs and benefits of various options for screening. 18,[22][23][24][25] Potential benefits of early detection include eliminating parents' frustrations of months or years of searching for the reason for the child's delays or behavioral problems, providing immediate access to early intervention services and information about FXS, and providing information relevant to the reproductive decisions of parents and extended family members. 19,22,26 Concerns about testing for this and other genetic disorders include the potential that a positive result would cause parents emotional anguish, affect bonding with the child, lead to discrimination and loss of privacy, violate the child's autonomy to choose whether or not to be tested as an adult, be cost prohibitive for widespread use, and increase abortions.…”