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

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EQA schemes for 2009

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Pilot schemes



Finances

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Participant Satisfaction Survey 2009

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Discussion topic

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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

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Genotyping only EQAs 2009

       Achondroplasia Familial hypercholesterolaemia

MUTYH

-associated polyposis Multiple endocrine neoplasia Rett syndrome Spinal bulbar muscular atrophy Von Hippel-Lindau disease

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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

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Gastrointestinal stromal tumour

(GIST)

molecular testing pilot EQA scheme

Background

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new type of EQA scheme - pharmacogenetics

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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]

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Preimplantation Genetic Diagnosis for monogenic disorders pilot EQA scheme

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CPA (UK) Ltd funded pilot scheme 2008-09 In collaboration with European Society of Human Reproduction & Embryology (EHSRE)

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Strategy Wanted to follow the whole process of PGD

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EQA based on a clinical case of a couple who are carriers of Cystic fibrosis mutations

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Stage 1 - Feasibility study using DNA samples Stage 2 PGD case using single cells as biopsied “embryo” cells

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Marking period is underway

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Future schemes will include other diseases UK NEQAS

Scheme Finances

INCOME

Balance brought forward Income from Scheme /Extra EQA rounds

TOTAL INCOME EXPENDITURE

Capital Expenditure Overheads Fees – NQAAP,NEQAS, CPA Consumables – lab & office Meeting costs/Steering Committee/Travel Employment costs/Agenda for Change Website

TOTAL EXPENDITURE SCHEME BALANCE AT YEAR END 01April 2007 to 31 March 2008 £

44,121 72,900

117,021

0 2,563 2,285 1,263 10,756 65,048 4,298

86,213 30,808 01 April 2008 to 31 March 2009

(predicted)

£

30,808 77,150

107,958

900 2,621 2,155 2,751 11,447 54,459 4,799

79,132 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

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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

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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

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40 50 60

Response All Questions - 8 Labs

30 20 10 0 Excellent Good Average Poor No response Range of responses

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Participant Comments

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

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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

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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

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Discussion topic

Use of commercial kits

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