Changes to the Cancer Genomic Test Directory
On Monday July 13th, NHS England will be making a series of changes to the Cancer Genomic Test Directory.
We would like to notify you of the following changes;
Key updates included in this version are:
- Addition of ctDNA (M226.7) and DNA & RNA FFPE panels (M226.5 and M226.6) for Carcinoma of Unknown Primary (CUP) – there are very specific eligibility criteria for CUP referrals; please see the appendix below for details. Reporting of variants for CUP will be supported by the South East Genomic Medicine Service and Solid Tumour Genomics Tumour Advisory Board (GTAB). To make a referral please complete this referral form and send it by email it to gstt.gtabsoutheastglh@nhs.net
- Eligibility criteria expansion in Endometrial Cancer (M215.5) to support upfront POLE testing – all endometrial carcinomas are now eligible for POLE testing as part of molecular classification to support diagnosis, risk stratification and clinical management.
- Eligibility / testing criteria clarification in Breast Cancer (M3.13) for ctDNA – the eligibility criteria are:
AT PROGRESSION:
ESR1- As per NICE recommendation (TA1036) to guide treatment decisions in patients with ER positive, HER 2 negative advanced / metastatic breast cancer that are progressing on first line treatment with endocrine therapy plus CDK 4/6 inhibitors (NB. Patients must have received at least 12 months of treatment). Repeat ctDNA for ESR1 testing may be appropriate at subsequent disease progression on an endocrine based therapy as long as the previous test was negative and patient remain eligible as per NICE recommendation.
PIK3CA/AKT1/PTEN – As per NICE recommendations (TA816, TA1063) to guide treatment decisions in patients with ER positive, HER 2 negative advanced / metastatic breast cancer that are progressing on first line treatment with an aromatase inhibitor plus CDK 4/6 inhibitor.
Re-testing may be indicated if previous ctDNA results were non-informative (e.g., low circulating tumour fraction) or if the sample failed technical QC.
In addition, we have previously communicated about implementation of reporting additional clinical trial targets. These will be included on genetic reports from October 2026.
If you have any questions, do not hesitate to contact us.
Dr Nirupa Murugaesu
Clinical Director for Cancer Genomics
Nicola Foot
Head of Service – Cancer Genomics Laboratory
seglhsomaticcancer@synnovis.co.uk
CUP eligibility criteria
M226.7: Carcinoma of Unknown Primary ctDNA
Patients must meet in full the following inclusion criteria:
- ECOG Performance status 0-2
- Diagnosis of carcinoma unknown primary origin (CUP) as per the ESMO / NICE guidelines.
- Discussion at a local CUP MDT confirming diagnosis
- Not currently on treatment
The following exclusion criteria apply:
- Patients with a malignancy of unknown origin are not eligible for testing (i.e. all patients should have a histological or cytological confirmation of malignancy)
- Patients with a non-epithelial/non-neuro-endocrine malignancy of unknown origin are not eligible for testing currently
M226.5, M226.6: Carcinoma of Unknown Primary Tissue
Patients must meet in full the following inclusion criteria:
- ECOG Performance status 0-2
- Diagnosis of carcinoma unknown primary origin (CUP) as per the ESMO / NICE guidelines.
- Discussion at a local CUP MDT confirming diagnosis
- Adequate biopsy material (FFPE) is available for DNA/RNA extraction
The following exclusion criteria apply:
- Patients with a non-epithelial/non-neuro-endocrine malignancy of unknown origin are not eligible for testing currently
M226.4 Carcinoma of Unknown Primary, WGS germline and tumour
Eligibility:
- Adult, paediatric and TYA patients with Cancer of Unknown Primary (CUP) are eligible for WGS
- Adequate fresh tissue is available for DNA extraction
- Not restricted to but permitted where non informative results from ctDNA or tissue and WGS may provide additional actionable information
