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

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.

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.

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

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

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

Survey comparisons - highlights Number of labs offering genetic testing has increased, 39 - 64 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

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

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