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The National Genetics Reference Laboratories

The National Genetics Reference Laboratories. Who they are, what they do, and how this might be useful to you Andrew Devereau, Head of NGRL Manchester. Introduction. History, who we are What we do How this might help you How to participate. History.

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The National Genetics Reference Laboratories

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  1. The National Genetics Reference Laboratories Who they are, what they do, and how this might be useful to you Andrew Devereau, Head of NGRL Manchester

  2. Introduction • History, who we are • What we do • How this might help you • How to participate

  3. History • An initiative in 2002 by the Department of Health to help bring new technology into diagnostic service • All labs in UK were able to bid • Two labs – Manchester and Wessex (Salisbury and Southampton) were successful • After the first five years we re-bid for a further five year programme (2007 – 2012)

  4. Objectives • To provide a forum for major developments in genetic laboratory science • To promote and take forward development of genetic laboratory science in the NHS • To act as a dedicated resource to support molecular and cytogenetic communities

  5. Steering group DH NGRL NGRL UKGTN Prof. societies Labs, centres Where do we fit? Research, projects, networks,manufacturers,organisations

  6. NGRL Wessex

  7. NGRL Manchester

  8. Wessex – work programme • New technologies • Quality assurance • Reference services

  9. Wessex - New technologies • Next generation sequencing – developing targeting and analysis protocols for diagnostics • Non-invasive pre-natal diagnosis (NIPD) – partners in RAPID - Reliable Accurate Prenatal non-Invasive Diagnosis • Array CGH – developing diagnostic application for micro deletions and duplications • Diagnostic validation of conformation sensitive capillary electrophoresis (CSCE)

  10. Wessex - Quality assurance • Guidelines for acceptable standards for the analytical validation of molecular genetic tests • Development of accredited reference reagents for BCR-ABL testing • Generic mutation detection and other reference reagents

  11. Wessex - Reference services • Cytogenetic databases - the Chromosome Anomaly Collection, the Transmitted Sub-Telomeric Imbalance Collection and the Chromosome Microdeletion/duplication Collection. Also project lead in ECARUCA

  12. Manchester – work programme • Informatics • Technology assessment • Quality assurance

  13. Manchester - Informatics • DMuDB – the Diagnostic Mutation Database – a confidential database for diagnostic laboratories to support variant interpretation • Universal Browser – a graphical display of DMuDB and other variant databases • SNPCheck – a tool to check PCR primers for SNPs • Training – bioinformatics course twice yearly • Gen2Phen – EU project to develop online resources

  14. Manchester – technology assessment • Next generation sequencing – working with Wessex on analysis protocols • Technology assessment forum – online message board style forum for labs to share experiences • MLPA spreadsheets – developed for each gene/disease and available on our website, or ask if you need one developing

  15. Manchester – quality assurance • Best practice guidelines – development of UV guideline for in-silico/splice site tools • NIPD –with Wessex in RAPID on the quality assurance of NIPD tests • Quality management system training • External quality assessment – distribution and analysis of samples for novel EQA

  16. How might we be useful to you? • New technology development • Introduction, training, experience, maybe play a role • Services – databases, tools • Training courses • Questions, queries • Feedback and suggestions – one of our roles is representing the diagnostic community

  17. Communications • Websites – www.ngrl.org.uk or Google NGRL – projects, progress, reports, contact information • Newsletter now quarterly by email • Register for updates via our LISTSERV • Stands at CMGS and BSHG • Reports and other outputs to our contact list • Your feedback? Formally through prof. socs., HoLs, via the website, conferences, visits, report/course evaluations, requests for feedback/participation

  18. Thank you! www.ngrl.org.uk andrew.devereau@cmmc.nhs.uk n.c.p.cross@soton.ac.uk

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