Contributions
Abstract: PB2144
Type: Publication Only
Background
Recent guidelines have highlighted the importance of genetic analysis in plasma cell myeloma (PCM) patients. GenQA (Genomics Quality Assessment) are a branch of UKNEQAS (UK National External Quality Assessment Schemes) and offer external quality assessment (EQA) schemes covering a range of haematological disease. In 2014, a pilot EQA scheme for PCM was launched. The scheme was aimed at all laboratories offering genetic testing for PCM patients, and included a questionnaire assessing the current status of PCM genetic testing. As well as providing a method to evaluate and assess laboratories analytical and interpretative skill and ability, the scheme aimed to provide an education component with the idea of creating a more equitable and consistent diagnostic genetic service. We present an update on the progress of the EQA scheme to date.
Aims
To introduce an EQA scheme for PCM to evaluate analytical and interpretative ability
To assess the status of PCM genetic testing at scheme introduction
To influence equity and consistency of genetic testing through educational components of scheme participation and production of best practice guidelines for genetic laboratories
Methods
The pilot GenQA scheme involved analysis of two known abnormal cases; the first case involved analysis of online FISH images, the second was presented as fixed patient cells for internal FISH processing and analysis. For each case, the participating laboratory produced a report that mirrored their standard reports. A panel of four experts, as well as the GenQA scheme organiser/deputy, assessed the analytical ability and the interpretative components presented in the report. This methodology has been followed in subsequent years. A questionnaire interrogating the laboratories referral patterns, sample numbers, turnaround times, techniques employed and gene regions examined was also issued in the inaugural year.
Results
At scheme introduction, 39 laboratories participated; of those, 33 produced satisfactory reports. Participation rates have shown an overall increase and plateau over the period of four years, 56 laboratories in year 2, 65 in year 3 and 61 in year 4. The number of poor performance laboratories demonstrated a decrease over the first three years with an upward spike in year 4; 15.4%, 10.7%, 3.1% and 14.8% over 2014, 2015, 2016 and 2017 respectively. This peak in poor performance was due to a change in testing strategy employed by some laboratories, with penalities being applied to the use of specific probes in an inappropriate context. Case 2, the wet sample, results in more poor performance, but also involves increased assessment of the testing strategy, technical and analytical ability of laboratories.
The inaugural scheme survey, provided evidence for the ad hoc nature of genetic testing in PCM, although the majority of laboratories did carry out the essential tests.
Conclusion
In summary, we present the successful implementation of an EQA for genetic diagnosis in myeloma, which is now entering its fifth year. We have seen an increase and plateau of participants over this period, and a positive effect of the educational component provided by the scheme. Although the essential tests are being provided by the majority of laboratories, an inequitable service is provided. This highlights the need, not only for the educational component of the EQA scheme, but for the production of best practice guidelines (BPG) in this area. BPG are currently in progress, to address this shortfall.
Session topic: 13. Myeloma and other monoclonal gammopathies – Biology & Translational Research
Keyword(s): Genetic, Myeloma, Quality control
Abstract: PB2144
Type: Publication Only
Background
Recent guidelines have highlighted the importance of genetic analysis in plasma cell myeloma (PCM) patients. GenQA (Genomics Quality Assessment) are a branch of UKNEQAS (UK National External Quality Assessment Schemes) and offer external quality assessment (EQA) schemes covering a range of haematological disease. In 2014, a pilot EQA scheme for PCM was launched. The scheme was aimed at all laboratories offering genetic testing for PCM patients, and included a questionnaire assessing the current status of PCM genetic testing. As well as providing a method to evaluate and assess laboratories analytical and interpretative skill and ability, the scheme aimed to provide an education component with the idea of creating a more equitable and consistent diagnostic genetic service. We present an update on the progress of the EQA scheme to date.
Aims
To introduce an EQA scheme for PCM to evaluate analytical and interpretative ability
To assess the status of PCM genetic testing at scheme introduction
To influence equity and consistency of genetic testing through educational components of scheme participation and production of best practice guidelines for genetic laboratories
Methods
The pilot GenQA scheme involved analysis of two known abnormal cases; the first case involved analysis of online FISH images, the second was presented as fixed patient cells for internal FISH processing and analysis. For each case, the participating laboratory produced a report that mirrored their standard reports. A panel of four experts, as well as the GenQA scheme organiser/deputy, assessed the analytical ability and the interpretative components presented in the report. This methodology has been followed in subsequent years. A questionnaire interrogating the laboratories referral patterns, sample numbers, turnaround times, techniques employed and gene regions examined was also issued in the inaugural year.
Results
At scheme introduction, 39 laboratories participated; of those, 33 produced satisfactory reports. Participation rates have shown an overall increase and plateau over the period of four years, 56 laboratories in year 2, 65 in year 3 and 61 in year 4. The number of poor performance laboratories demonstrated a decrease over the first three years with an upward spike in year 4; 15.4%, 10.7%, 3.1% and 14.8% over 2014, 2015, 2016 and 2017 respectively. This peak in poor performance was due to a change in testing strategy employed by some laboratories, with penalities being applied to the use of specific probes in an inappropriate context. Case 2, the wet sample, results in more poor performance, but also involves increased assessment of the testing strategy, technical and analytical ability of laboratories.
The inaugural scheme survey, provided evidence for the ad hoc nature of genetic testing in PCM, although the majority of laboratories did carry out the essential tests.
Conclusion
In summary, we present the successful implementation of an EQA for genetic diagnosis in myeloma, which is now entering its fifth year. We have seen an increase and plateau of participants over this period, and a positive effect of the educational component provided by the scheme. Although the essential tests are being provided by the majority of laboratories, an inequitable service is provided. This highlights the need, not only for the educational component of the EQA scheme, but for the production of best practice guidelines (BPG) in this area. BPG are currently in progress, to address this shortfall.
Session topic: 13. Myeloma and other monoclonal gammopathies – Biology & Translational Research
Keyword(s): Genetic, Myeloma, Quality control