Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS

被引:12
|
作者
Harrison M. [1 ,2 ,3 ]
Birch S. [1 ,4 ]
Eden M. [1 ]
Ramsden S. [5 ]
Farragher T. [6 ]
Payne K. [1 ]
Hall G. [5 ]
Black G.C.M. [5 ,7 ]
机构
[1] Manchester Centre for Health Economics, Institute of Population Health, MAHSC, The University of Manchester, Manchester
[2] University of British Columbia, Vancouver, BC
[3] Centre for Health Evaluation and Outcome Sciences, St Paul’s Hospital, Vancouver, BC
[4] Centre for Health Economics and Policy Analysis, McMaster University, Hamilton, ON
[5] Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), The University of Manchester, Manchester
[6] Leeds Institute of Health Sciences, University of Leeds, Charles Thackrah Building, Leeds
[7] Centre for Genomic Medicine, Institute of Human Development, MAHSC, The University of Manchester, Manchester
关键词
Genetic services; Genetic testing; Health planning; Health services accessibility; Health services needs and demand;
D O I
10.1007/s12687-014-0210-4
中图分类号
学科分类号
摘要
This study aims to identify and quantify the extent of current variation in service provision of a genetic testing service for dominant and X-linked retinal dystrophies in the English National Health Service (NHS). National audit data (all test requests and results (n = 1839) issued between 2003 and 2011) and survey of English regional genetic testing services were used. Age- and gender-adjusted standardised testing rates were calculated using indirect standardisation, and survey responses were transcribed verbatim and data collated and summarised. The cumulative incidence rate of testing in England was 4.5 per 100,000 population for males and 2.6 per 100,000 population for females. The standardised testing rate (STR) varied widely between regions of England, being particularly low in the North-east (STR 0.485), with half as many tests as expected based on the size and demographic distribution of the population and high in the South-east (STR 1.355), with 36 % more tests than expected. Substantial and significantly different rates of testing were found between regional populations. Specific policy mechanisms to promote, monitor and evaluate the regional distribution of access to genetic and genomic testing are required. However, commissioners will require information on the scope and role of genetic services and the population at risk of the conditions for which patients are tested. © 2015, Springer-Verlag Berlin Heidelberg.
引用
收藏
页码:157 / 165
页数:8
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