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1 results

  • 14 - Implementation and auditing of new genetics and tests: translating genetic tests into practice in the NHS

  • Edited by Sean Kehoe, Lyn Chitty, Tessa Homfray
  • Book:
    Reproductive Genetics
    Published online:
    05 February 2014
    Print publication:
    01 November 2009, pp 193-198

  • Summary

    NHS practice is largely compliant with international recommendations such as those adopted by the Organisation for Economic Co-operation and Development in 2007 for quality assurance in molecular genetic testing. The UK Genetic Testing Network (UKGTN) gene dossier asks the service provider to define their proposed test in the context of the disease and associated gene(s) targeted, the mutation spectrum detectable by the set of assays used, the patient group targeted and, most importantly, those clinicians from whom referrals are acceptable. Clinical utility is the measure on which the evaluation of a test by the UKGTN may stand or fall. The evaluation of new genetic tests cannot be separated from the enabling technologies that will allow them to be realised. Next-generation genomic technologies (such as microarrays and parallel DNA sequencing) will require full health technology and economic assessment.