Brain 17 Vienna

07.11.2017

6. Which additional platforms are you going to implement within the next 1-2 years?

6. Which additional platforms are you going to implement within the next 1-2 years?

Gene panel sequencing Targeted gene sequencing Methylation-specific PCR Pyrosequencing Fluorescence in situ hybridisation Multiplex lig.-depend. probe amplification Methylation array

Gene panel sequencing Targeted gene sequencing Methylation-specific PCR Pyrosequencing Fluorescence in situ hybridisation Multiplex lig.-depend. probe amplification Methylation array

2.7

1.9

1.5

4.5

1.3

10

6

Whole Exome/Genome/RNA seq Other None • Limited

Whole Exome/Genome/RNA seq Other None

8

4

3.7

resources

• Already broad access

0 10 20 30 40

0 10 20 30 40

No of respondents

No of respondents

60 % of neuropathologists aim at implementing one additional technique

High Low Income

55

56

7. Are you concerned about the analytical test performance of any of those markers?

9. Is there a need for guidelines on marker testing? 10. Would you be willing to participate in a ring trial?

%

0 25 50 75 100

Yes No No comment

8. If yes, which marker would you rate most problematic?

IDH1 IDH2 1p19q MGMT

0 25 50 75 100 %

ATRX TERT

Yes No Uncertain

Other

0 5 10 15 20

No of respondents

Woehreretal,ClinNeuropathol2017

Woehreretal,ClinNeuropathol2017

57

58

Summary

• Post 2016 WHO survey focused on neuropathologists

• Neuropathologists uniformly rate molecular marker testing as highly relevant and already incorporate molecular information in their diagnostic assessments • Differences in access to crucial biomarkers and molecular techniques across geographic regions AND within individual countries • Concerns regarding the validity of test assays (with MGMT, 1p 19q, and ATRX being perceived most problematic) underline the need for consensus guidelines on molecular marker testing (cIMPACT now, Euro-CNS)

Thank you.

Woehreretal,ClinNeuropathol2017

59

60

10