Transcript UK NEQAS FOR MOLECULAR GENETICS UK NATIONAL …

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