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UK NEQAS FOR MOLECULAR GENETICS UK NATIONAL EXTERNAL QUALITY ASSESSMENT SCHEMES

UK NEQAS FOR MOLECULAR GENETICS UK NATIONAL EXTERNAL QUALITY ASSESSMENT SCHEMES www.ukneqas-molgen.org.uk Accredited EQA Scheme Ref No. 051 Participants’ Meeting 2009. Agenda EQA schemes for 2009 Pilot schemes Finances Participant Satisfaction Survey 2009 Discussion topic.

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UK NEQAS FOR MOLECULAR GENETICS UK NATIONAL EXTERNAL QUALITY ASSESSMENT SCHEMES

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  1. UK NEQAS FOR MOLECULAR GENETICSUK NATIONAL EXTERNAL QUALITY ASSESSMENT SCHEMES www.ukneqas-molgen.org.ukAccredited EQA Scheme Ref No. 051 Participants’ Meeting 2009

  2. Agenda EQA schemes for 2009 Pilot schemes Finances Participant Satisfaction Survey 2009 Discussion topic

  3. EQA schemes for 2009 Cystic fibrosis Familial breast and ovarian cancer Fragile X syndrome Friedreich Ataxia Hereditary motor and sensory neuropathy and Hereditary neuropathy with liability to pressure palsy Huntington disease Maternal cell contamination and sexing MCADD Mitochondrial diseases Myotonic dystrophy type 1 Spinal muscular atrophy CF testing on blood spots Molecular Rapid Aneuploidy EQA

  4. Genotyping only EQAs 2009 Achondroplasia Familial hypercholesterolaemia MUTYH-associated polyposis Multiple endocrine neoplasia Rett syndrome Spinal bulbar muscular atrophy Von Hippel-Lindau disease

  5. BRCA1 full gene screen EQA new for 2009 one sample for analysis distributed with first round of EQA (July) 12 weeks given for testing genotyping results required

  6. Gastrointestinal stromal tumour (GIST) molecular testing pilot EQA scheme Background new type of EQA scheme - pharmacogenetics GIST patients with mutations in the c-Kit and PDGFR genes respond well to treatment with Imatinib 2008 Pilot EQA - Successful pilot scheme - 5 participants - testing for mutations in the c-Kit and PDGFR genes - distributed paraffin section & mounted slides - interpretative scheme - identified 2 genotyping errors

  7. KRAS molecular testing pilot EQA scheme 2009 Background - new type of EQA scheme - pharmacogenetics - activating mutations in the KRAS gene have been shown to give rise to resistance to particular drug and antibody treatments in small cell lung cancer and colorectal cancer 2009 Pilot EQA - In planning stages - To date 7 labs shown an interest in participating - Anyone interested should contact Scheme Organiser on info@ukneqas-molgen.org.uk

  8. Preimplantation Genetic Diagnosis for monogenic disorders pilot EQA scheme CPA (UK) Ltd funded pilot scheme 2008-09 In collaboration with European Society of Human Reproduction & Embryology (EHSRE) Strategy Wanted to follow the whole process of PGD EQA based on a clinical case of a couple who are carriers of Cystic fibrosis mutations Stage 1 - Feasibility study using DNA samples Stage 2 - PGD case using single cells as biopsied “embryo” cells Marking period is underway Future schemes will include other diseases

  9. Scheme Finances 01April 2007 to01 April 2008 to 31 March 200831 March 2009 (predicted) £ £ INCOME Balance brought forward 44,121 30,808 Income from Scheme /Extra EQA rounds 72,900 77,150 TOTAL INCOME 117,021107,958 EXPENDITURE Capital Expenditure 0 900 Overheads 2,563 2,621 Fees – NQAAP,NEQAS, CPA 2,285 2,155 Consumables – lab & office 1,263 2,751 Meeting costs/Steering Committee/Travel 10,756 11,447 Employment costs/Agenda for Change 65,048 54,459 Website 4,298 4,799 TOTAL EXPENDITURE 86,21379,132 SCHEME BALANCE AT YEAR END 30,808 28,826

  10. Participant Satisfaction Survey 2009 AIM: Review Sample Swap/Genotyping only EQAs – ROUND 1 FEEDBACK: Generally supportive with some requests for improvements SCHEME RESPONSE: Steering Committee need to review later

  11. Ease of submitting results Turnaround scheme report September distribution Range of diseases Number of diseases Content of scheme report Survey Content Registration process Supply of samples Timing of distribution Quality of samples Turnaround time permitted

  12. Participant Satisfaction Survey 2009 8/20 (40%) participating labs responded + 3 labs who didn’t participate - not counted (no complaints)! Majority of responses fall into the good or excellent categories

  13. Response All Questions - 8 Labs

  14. Participant Comments Quality / quantity of DNA “sub-optimal”– 4 labs Coincided with similar EMQN scheme – better co-ordination requested Results proforma – request for better mimic of clinical reporting Scheme report limited in content for genotype only schemes Limited analytical range for Connexin 26 and MEN1- too specific

  15. Participant Comments Very pleased that further disease services are being included This is a very useful addition to the full schemes for lower frequency diseases

  16. Participant Satisfaction Survey 2009 SCHEME ORGANISER RESPONSE: DNA – limited quantity available for this round. All labs received the same samples for each disease - will consider options available Steering Committee will review other comments in due course

  17. Discussion topic Use of commercial kits

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