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UK NEQAS www.ukneqas-molgen.org.uk UK NEQAS FOR MOLECULAR GENETICS UK NATIONAL EXTERNAL QUALITY ASSESSMENT SCHEMES Accredited EQA Scheme Ref No. 051 Participants’ Meeting 2009 Agenda EQA schemes for 2009 Pilot schemes Finances Participant Satisfaction Survey 2009 Discussion topic UK NEQAS 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 UK NEQAS Genotyping only EQAs 2009 Achondroplasia Familial hypercholesterolaemia MUTYH-associated polyposis Multiple endocrine neoplasia Rett syndrome Spinal bulbar muscular atrophy Von Hippel-Lindau disease UK NEQAS 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 UK NEQAS 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 UK NEQAS 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 [email protected] UK NEQAS 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 UK NEQAS Scheme Finances 01April 2007 to 31 March 2008 £ 01 April 2008 to 31 March 2009 (predicted) £ INCOME Balance brought forward Income from Scheme /Extra EQA rounds TOTAL INCOME 44,121 72,900 117,021 30,808 77,150 107,958 EXPENDITURE Capital Expenditure Overheads Fees – NQAAP,NEQAS, CPA Consumables – lab & office Meeting costs/Steering Committee/Travel Employment costs/Agenda for Change Website TOTAL EXPENDITURE 0 2,563 2,285 1,263 10,756 65,048 4,298 86,213 900 2,621 2,155 2,751 11,447 54,459 4,799 79,132 SCHEME BALANCE AT YEAR END 30,808 28,826 UK NEQAS 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 UK NEQAS Survey Content Registration process Supply of samples Timing of distribution Quality of samples Turnaround time permitted Ease of submitting results Turnaround scheme report September distribution Range of diseases Number of diseases Content of scheme report UK NEQAS 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 UK NEQAS Response All Questions - 8 Labs 60 50 40 30 Range of responses 20 10 0 Excellent Good Average Poor No response UK NEQAS Participant Comments Quality / quantity of DNA “sub-optimal”– 4 labs Coincided with similar EMQN scheme – better coordination 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 MEN1too specific UK NEQAS 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 UK NEQAS 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 UK NEQAS Discussion topic Use of commercial kits UK NEQAS