Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS
- 175 Downloads
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.
KeywordsHealth services accessibility Health services needs and demand Genetic testing Genetic services Health planning
This work was supported by RP Fighting Blindness (UK) (Project Grant No. GR570), Fight For Sight (Programme Grant No. 1801), the Manchester NIHR Biomedical Research Centre (BRC), Moorfields Eye Hospital Biomedical Research Centre and the Greater Manchester Comprehensive Local Research Network.
Compliance with ethics guidelines
This is a clinical audit and service evaluation not requiring ethical approval. This article does not contain any studies with human or animal subjects performed by the any of the authors.
Conflict of interest
Mark Harrison, Stephen Birch, Martin Eden, Simon Ramsden, Tracey Farragher, Katherine Payne, Georgina Hall, and Graeme Black declare that they have no conflict of interest.
- Appleby J, Raleigh V, Frosini F, Bevan G, Gao H, Lyscom T. Variations in health care: the good, the bad and the inexplicable. http://www.kingsfund.org.uk/sites/files/kf/Variations-in-health-care-good-bad-inexplicable-report-The-Kings-Fund-April-2011.pdf [serial online] 2011; Available from: The King’s Fund. Accessed January 7, 2014
- Breslow NE, Day NE (1987) Statistical methods in cancer research. Volume II—the design and analysis of cohort studies. IARC Sci Publ 1–406Google Scholar
- Hennekens CH, Buring JE (1987) Epidemiology in medicine, 1st edn. Lippincott Williams & Wilkins, PhiladelphiaGoogle Scholar
- House of Lords Technology Select Committee. Genomic medicine. 2nd Report of Session 2008-09. 2009. London, Stationary OfficeGoogle Scholar
- MacLaren RE, Groppe M, Barnard AR et al. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet 2014; Early online publication, 16 January 2014Google Scholar
- NHS Commissioning Board. Securing equity and excellence in commissioning specialised services. 2012. NHS Commissioning BoardGoogle Scholar
- NHS Right Care. The NHS atlas of variation in healthcare. 2010. NHS Right CareGoogle Scholar
- Office for National Statistics. All releases of Population Estimates for UK, England and Wales, Scotland and Northern Ireland. http://www.ons.gov.uk/ons/publications/all-releases.html?definition=tcm:77-22371 [serial online] 2013; Available from: Office for National Statistics. Accessed March 19, 2013
- Technical Committee ISO/TC 212. 15189: Clinical laboratory testing and in vitro diagnostic test systems. 2012. ISOGoogle Scholar
- UK Genetic Testing Network. Molecular genetic test activity rates in the United Kingdom 2011/12. 2014. National Health Service. 1-2-2014Google Scholar