Journal of Community Genetics

, Volume 6, Issue 2, pp 157–165 | Cite as

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

  • Mark Harrison
  • Stephen Birch
  • Martin Eden
  • Simon Ramsden
  • Tracey Farragher
  • Katherine Payne
  • Georgina Hall
  • Graeme CM BlackEmail author
Original Article


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.


Health 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.

Supplementary material

12687_2014_210_MOESM1_ESM.doc (106 kb)
ESM 1 (DOC 106 kb)


  1. Appleby J, Raleigh V, Frosini F, Bevan G, Gao H, Lyscom T. Variations in health care: the good, the bad and the inexplicable. [serial online] 2011; Available from: The King’s Fund. Accessed January 7, 2014
  2. Bainbridge JW, Smith AJ, Barker SS et al (2008) Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 358:2231–2239CrossRefPubMedGoogle Scholar
  3. Berger W, Kloeckener-Gruissem B, Neidhardt J (2010) The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res 29:335–375CrossRefPubMedGoogle Scholar
  4. Biesecker LG, Burke W, Kohane I, Plon SE, Zimmern R (2012) Next-generation sequencing in the clinic: are we ready? Nat Rev Genet 13:818–824CrossRefPubMedCentralPubMedGoogle Scholar
  5. 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
  6. Combs R, Hall G, Payne K et al (2013a) Understanding the expectations of patients with inherited retinal dystrophies. Br J Ophthalmol 97:1057–1061CrossRefPubMedGoogle Scholar
  7. Combs R, McAllister M, Payne K et al (2013b) Understanding the impact of genetic testing for inherited retinal dystrophy. Eur J Hum Genet 21:1209–1213CrossRefPubMedCentralPubMedGoogle Scholar
  8. Daiger SP, Bowne SJ, Sullivan LS (2007) Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol 125:151–158CrossRefPubMedCentralPubMedGoogle Scholar
  9. Eden M, Payne K, Combs RM, Hall G, McAllister M, Black GC (2013) Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method. Br J Ophthalmol 97:1051–1056CrossRefPubMedGoogle Scholar
  10. Farrar GJ, Palfi A, O'Reilly M (2010) Gene therapeutic approaches for dominant retinopathies. Curr Gene Ther 10:381–388CrossRefPubMedGoogle Scholar
  11. Hennekens CH, Buring JE (1987) Epidemiology in medicine, 1st edn. Lippincott Williams & Wilkins, PhiladelphiaGoogle Scholar
  12. House of Lords Technology Select Committee. Genomic medicine. 2nd Report of Session 2008-09. 2009. London, Stationary OfficeGoogle Scholar
  13. Jacob HJ (2013) Next-generation sequencing for clinical diagnostics. N Engl J Med 369:1557–1558CrossRefPubMedGoogle Scholar
  14. 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
  15. Maguire AM, High KA, Auricchio A et al (2009) Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet 374:1597–1605CrossRefPubMedGoogle Scholar
  16. Neveling K, Collin RW, Gilissen C et al (2012) Next-generation genetic testing for retinitis pigmentosa. Hum Mutat 33:963–972CrossRefPubMedCentralPubMedGoogle Scholar
  17. NHS Commissioning Board. Securing equity and excellence in commissioning specialised services. 2012. NHS Commissioning BoardGoogle Scholar
  18. NHS Right Care. The NHS atlas of variation in healthcare. 2010. NHS Right CareGoogle Scholar
  19. Office for National Statistics. All releases of Population Estimates for UK, England and Wales, Scotland and Northern Ireland. [serial online] 2013; Available from: Office for National Statistics. Accessed March 19, 2013
  20. O'Sullivan J, Mullaney BG, Bhaskar SS et al (2012) A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J Med Genet 49:322–326CrossRefPubMedGoogle Scholar
  21. Shanks ME, Downes SM, Copley RR et al (2013) Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. Eur J Hum Genet 21:274–280CrossRefPubMedCentralPubMedGoogle Scholar
  22. Singleton AB (2011) Exome sequencing: a transformative technology. Lancet Neurol 10:942–946CrossRefPubMedCentralPubMedGoogle Scholar
  23. Technical Committee ISO/TC 212. 15189: Clinical laboratory testing and in vitro diagnostic test systems. 2012. ISOGoogle Scholar
  24. UK Genetic Testing Network. Molecular genetic test activity rates in the United Kingdom 2011/12. 2014. National Health Service. 1-2-2014Google Scholar
  25. Willis TA, Potrata B, Ahmed M et al (2013) Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective. Br J Ophthalmol 97:1148–1154CrossRefPubMedCentralPubMedGoogle Scholar
  26. Yang YP, Muzny DM, Reid JG et al (2013) Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med 369:1502–1511CrossRefPubMedCentralPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Mark Harrison
    • 1
    • 2
    • 3
  • Stephen Birch
    • 1
    • 4
  • Martin Eden
    • 1
  • Simon Ramsden
    • 5
  • Tracey Farragher
    • 6
  • Katherine Payne
    • 1
  • Georgina Hall
    • 5
  • Graeme CM Black
    • 5
    • 7
    Email author
  1. 1.Manchester Centre for Health Economics, Institute of Population Health, Faculty of Medical and Human Sciences, MAHSCThe University of ManchesterManchesterUK
  2. 2.Faculty of Pharmaceutical SciencesUniversity of British ColumbiaVancouverCanada
  3. 3.Centre for Health Evaluation and Outcome SciencesSt Paul’s HospitalVancouverCanada
  4. 4.Centre for Health Economics and Policy AnalysisMcMaster UniversityHamiltonCanada
  5. 5.Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC)The University of ManchesterManchesterUK
  6. 6.Leeds Institute of Health SciencesUniversity of LeedsLeedsUK
  7. 7.Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, MAHSCThe University of ManchesterManchesterUK

Personalised recommendations