1. Introduction of a European Quality Assessment Scheme for Genetic Testing in Myeloma: Progress and Update
Polly Talley
Takeda EHA Bursary Winner
9th November 2018

2. Background
Clinical Scientist – Genetics
HMDS – Leeds / SDGS – Sheffield
Part-time PhD with SMaRT, University of Sheffield
Assessor / SAG member for GenQA
GenQA (Genomics Quality Assessment) are a branch of UKNEQAS offering EQA schemes covering a range of haematological disease.
Recent NICE guidelines (& others) have highlighted the importance of genetic testing in myeloma patients.
No EQA scheme available for the assessment of this genomic testing.

3. Aims
To introduce an EQA scheme for myeloma to evaluate the analytical and interpretative ability of diagnostic genetic laboratories.
To assess the status of myeloma genetic testing at scheme introduction and then later as a comparison.
To influence equity and consistency of genetic testing through educational components of scheme participation
To produce best practice guidelines for genetics laboratories.

4. The EQA Scheme Pilot scheme introduced in 2014
Two known abnormal myeloma cases were presented:
Case scenarios with referral forms were provided
Case 1 involved online images for assessment, and case 2 was presented as fixed plasma cells (CD138+ve separated) for standard FISH processing within the laboratory
For each case, the laboratories produce a report that mirrors their standard reports, and upload this for assessment
Assessment was carried out by a panel of four geneticists
Marking criteria covered analysis and results, ISCN and description of results, report presentation, interpretation and prognosis
Produce an individual lab report, and a scheme letter describing the cases provided, common mistakes and learning points

5. Pilot cases presented
IGH BA
IGH-MAF
TP53 / 17cen
CDKN2C/CKS1B 1p/1q)

6. Outcomes of the EQA Scheme
Continued with the same format
2 cases, one online and one wet sample
Currently in fifth year, and issued a comparison survey this year
Increase, and plateau, in participants over 5yrs
Poor performance has fluctuated – but downward trend

7. Survey comparisons - highlights
Number of labs offering genetic testing has increased,
Average TAT has improved from 18.7 days to 16.8 days
In 2014, 5% of labs did not include TP53 testing in their panel, 100% of labs now include this. Indeed all labs now offer all the essential tests, but variation in the testing offered
All labs used FISH analysis in 2014, and in 2018 we have seen movement to additional techniques, such as MLPA and Array
The 2018 survey showed that four labs were considering including mutational analysis panels as part of their genetic testing, although no labs are offering this at present

8. Summary and Conclusions
Successful implementation of an EQA for genetic diagnosis in myeloma
Currently reporting back on 5th consecutive year
Increase, and then plateau, in the number of participants
Evidence for the positive effects of the educational component of the scheme based on poor performance and testing offered
Essential tests are now being provided by all laboratories
However, highly inequitable in the extent / quality of the service provided
Highlights the need for BPG for genetic labs, which are in progress

9. Acknowledgements Thank you to UKMF & Takeda for EHA Bursary
Dr Andy Chantry
Professor Angie Cox
SMaRT, University of Sheffield
Dr Ros Hastings
Katrina Rack
GenQA
HMDS, St James’s Hospital, Leeds