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Wendy Roworth

You have recently set up a new disease service in your laboratory. What is the role of the UKGTN? Describe the processes involved in submission and evaluation of a gene dossier. Wendy Roworth. Essay plan. What is the UKGTN & what does it do? Structure Steering group & working groups

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Wendy Roworth

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  1. You have recently set up a new disease service in your laboratory. What is the role of the UKGTN? Describe the processes involved in submission and evaluation of a gene dossier Wendy Roworth

  2. Essay plan • What is the UKGTN & what does it do? • Structure • Steering group & working groups • Lab membership • UKGTN directory • Gene dossier • What is it? • Role of gene dossier working group • Submission of gene dossier • Gene dossier evaluation framework • Testing criteria

  3. What is the UKGTN? • UKGenetic Testing Network • www.ukgtn.nhs.uk • Collaborative groups of labs, clinicians, commissioners and involves patient support groups • Established in 2003 • One of main aims of UKGTN is to resolve the ‘postcode lottery’ and promote equity of access to genetic testing

  4. What does the UKGTN do? • Ensures provision of high quality & equitable, genetic testing services • Evaluating new tests to ensure scientific and clinical validity • Making recommendations to commissioners on new NHS services. • Provides advisory role to DoH on national policies • UKGTN member labs adhere to high standards of quality and clinical governance • All CPA accredited

  5. Structure of UKGTN

  6. The UKGTN working groups • Four working groups: • Gene Dossier & Directory working group • Lab membership & audit working group • Commissioning • Systems & Communication • Working groups carry out work on behalf of the steering committee

  7. Lab membership • In 2003 all molecular labs in RGCs applied & were granted UKGTN lab membership • Also some specialist labs granted membership • In 2007 cytogenetics labs invited to apply for membership • All labs must: • Be CPA accredited • Participate in EQA • Adhere to best practice guidelines • Have suitable trained staff • Try to meet nationally agreed TATs

  8. UKGTN directory/ database • Purpose of directory is to allow equity in access to genetic testing across the NHS • Directory lists all NHS approved genetic tests • Online database details labs that provide testing and types of analysis offered. • Once a test is on the directory it is recommended to be considered for funding under local specialised commissioning arrangements

  9. What is a gene dossier? • Method used by UKGTN to ensure tests are appropriate and of high quality • Test should be of benefit to patients • Only required for tests provided on a national (not local) basis • If test approved, a recommendation is sent to national genetics commissioning advisory group (they may request local health commissioners consider providing funding for test)

  10. Gene dossier & directory working group • Evaluates and recommends tests to be included in or deleted from the directory • Ensure testing criteria and testing criteria forms within the gene dossier process are kept under review • Involved in evaluating new genetic technologies, eg: has recommended funding for array CGH as a first-line test for dev delay cyto referrals

  11. Submission of gene dossier • If test not already on UKGTN directory a full submission required; if it is just an ‘additional provider’ form required • Submitted by lab providing the testing. Multidisciplinary involvement required. • Submitted for disease not gene (eg one dossier for BRCA1 & 2 genes) • Testing criteria • Evaluated by gene dossier working group, additional info may be requested

  12. Gene dossier evaluation framework • Includes the following: • Seriousness of condition • Prevalence of condition • Purpose of test – diagnostic, presymptomatic etc. • Technical details of test • Context of test use – defined population groups • Test characteristics – sensitivity, specificity & predictive value • Clinical utility of test – adds to patient management or if alternative diagnostic procedures available • Ethical, legal & social considerations • Price of test • MDT & transparent process

  13. Testing criteria • Integral part of gene dossier process – labs to develop testing criteria • Testing criteria reflect target population, disease and purpose of testing • Promotes appropriate referrals • Identifies main types of referrers • Identifies key features of the disorder • UKGTN would like to develop testing criteria for all diseases on directory

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