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

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Agenda

EQA schemes for 2009 Pilot schemes Finances Participant Satisfaction Survey 2009 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 -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

info@ukneqas-molgen.org.uk

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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

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Scheme Finances

01April 2007 to 01 April 2008 to 31 March 2008 31 March 2009

(predicted) £ £

INCOMEBalance brought forward 44,121 30,808Income from Scheme /Extra EQA rounds 72,900 77,150TOTAL INCOME 117,021 107,958

EXPENDITURECapital Expenditure 0 900Overheads 2,563 2,621Fees – NQAAP,NEQAS, CPA 2,285 2,155Consumables – lab & office 1,263 2,751Meeting costs/Steering Committee/Travel 10,756 11,447Employment costs/Agenda for Change 65,048 54,459Website 4,298 4,799TOTAL EXPENDITURE 86,213 79,132

SCHEME BALANCE AT YEAR END 30,808 28,826

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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 samplesTiming of

distributionQuality of samplesTurnaround time

permitted

Ease of submitting results

Turnaround scheme report

September distribution

Range of diseases Number of diseasesContent 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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Response All Questions - 8 Labs

0

10

20

30

40

50

60

Excellent Good Average Poor Noresponse

Range of responses

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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

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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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