UKGTN – 10 Years supporting genetic testing

1. UKGTN – 10 Years supporting genetic testing Jacquie Westwood UK Genetic Testing Network

2. UKGTN Reports

3. What has been delivered ? • Approving UKGTN member labs who provide quality assured tests • Acknowledgment – UKGTN Laboratory Membership & Audit working group steered by Ann Curtis and Roger Mountford • Evaluating and recommending new genetic tests • Acknowledgment – Concept, Ron Zimmern; Implementation, UKGTN Genetic Test Evaluation working group steered by Fiona Stewart • Demonstrating cost efficiencies elsewhere in the care pathway resulting from new tests being available • Acknowledgment - Gene Dossier applicant clinicians and the laboratories

4. What has been delivered ? • The NHS Directory of Genetic Testing which lists the disorders and tests/genes recommended • Acknowledgment – Concept, Project Team; steered by Peter Farndon • Web site with an online data base showing which tests are available from the member laboratories • Acknowledgment – Concept, Project Team advised by Andrew Devereau & UKGTN Scientific Advisor; implemented through Certus Technologies • Innovated Testing Criteria to provide clinical guidance • Acknowledgment – Concept Project Team; steered by UKGTN Genetic Test Evaluation working group

5. What has been delivered ? • Recording lab activity using a consistent method to benchmark services • Acknowledgment – Concept Ann Curtis & UKGTN Scientific Advisor; steered by UKGTN Laboratory Membership & Audit working group, ACGS (previously CMGS & ACC) & UKGTN Project team • Links with specialised commissioners to improve commissioning mechanisms to benefit equity of provision • Acknowledgment – UKGTN Commissioning Support working group & Patient Representative Groups • Annual review of genetic testing rates • Acknowledgement - Concept UKGTN Public Health Advisor; steered by UKGTN Laboratory Membership & Audit working group and implemented through the London Health Observatory

6. What has been delivered ? • Reviewing emerging technologies, e.g. arrayCGH, and their ability to improve diagnosis for patients • Acknowledgements – Patient Groups, International expertise, National Genetics Reference Laboratories, PHG Foundation & UKGTN Clinical Advisor; steered by UKGTN Commissioning Support working group • Translating laboratory research to introduce new testing methods such as NIPD and gene panel tests • Acknowledgment – Concept UKGTN Advisors (Public Health, Clinical & Scientific); steered by UKGTN Genetic Test Evaluation working group, UKGTN Laboratory Membership & Audit working group and project team

7. UKGTN Next steps include • Support commissioning to improve equity, service provision, quality, information & translation of research into service • Improve diagnostic care pathways & realise best value recognising that NHS will have no increase in resources inclusive to 2020. • Provide guidance to enable genetics to be integrated within other specialities • Report Quality Assurance results • Implement a new web site to improve usability and information to patients and the public

8. UKGTN – Ethos • Equity of access for Patients • Collaboration rather than competition • Economic imperativein a period of no growth • Excellence in diagnostic service provision • Transparency about quality assurance & awareness of Regulation • International exchange • Keeping pace with Change

9. Thanks to • UKGTN Members • UKGTN Project team • Working Group Chairs • Expert advisors • UKGTN Clinical & Scientific Advisory Group • DH • Professional Groups • Former National Genetic Reference Laboratories • PHG Foundation • London Health Observatory • NSCT