Roll out of Phase 3 NTRK gene fusion testing

Since October 2020, the All Wales Medical Genomics Service have been delivering RNA-based NGS testing for the detection of gene fusions in cancer patients in Wales alongside the existing DNA-based NGS analysis. This is an exciting development bringing additional genetic information to Clinicians to aid diagnosis, prognosis and treatment planning.

Phase 3 NTRK gene fusion clinical guidance advice is that by January 2021, access to NTRK gene fusion testing will be extended to all patients with a diagnosis of any solid tumour type not cited in phases 1 and 2 (see NTRK clinical guidance). Phase 3 will be delivered on time by AWMGS albeit with some changes to the original plan owing to external pressures outside of the control of the laboratory:

From January 2021, FISH analysis will be available for NTRK gene fusion detection on phase 3 solid tumours rather than the planned RNA-based Next Generation Sequencing methodology. Please send 6 x 3-4μM sections (singly mounted) on charged/adhesion slides for NTRK1, NTRK2, and NTRK3 FISH analysis.

From January 2021, NTRK gene analysis can be performed on phase 3 solid tumour patients at the point of eligibility for Larotrectinib or Entrectonib and not upfront in the patient pathway.
 

There will be no changes to the existing RNA-based NGS service for phase 1 and 2 solid tumour patients. Please continue to refer for NTRK testing all patients eligible for treatment with Larotrectinib or Entrectinib.

Please do not hesitate to contact the laboratory should you have any queries regarding solid tumour services by contacting the Head of Solid Tumour Services: This email address is being protected from spambots. You need JavaScript enabled to view it.  or Head of Cancer Services: This email address is being protected from spambots. You need JavaScript enabled to view it..

Alternatively, you may find this Frequently Asked Questions document useful to answer any questions you may have.

We will inform you when the laboratory is able to offer NTRK testing using RNA-NGS for all patients. 

To support RNA service changes we have developed the solid tumour area of our website. If you have any feedback, suggestions or comments on the updated website information please send them to This email address is being protected from spambots. You need JavaScript enabled to view it..