Jacquie Westwood UK Genetic Testing Network

 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

 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

 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

 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

 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  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

 Equity of access for Patients  Collaboration rather than competition  Economic imperative in a period of no growth  Excellence in diagnostic service provision  Transparency about quality assurance & awareness of Regulation  International exchange  Keeping pace with Change

 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