1 / 13

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

konala
Télécharger la présentation

Wendy Roworth

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related