Circulating Tumour DNA (ctDNA)

Enabling early lung cancer diagnosis for patients who cannot have a tumour biopsy

What are we trying to do?

Cancerous cells and tumours leak DNA into the bloodstream as the tumour grows. It is possible to look for these fragments of DNA as a way to determine if a tumour is present and so confirm a diagnosis.

This project aims to provide evidence, including the health economics, for the expansion of ctDNA testing in the NHS to support early diagnosis of cancer, diagnosis of cancer for patients who currently cannot have a tumour biopsy, or do not yet have a confirmed diagnosis​.

This form of testing could lead to much earlier diagnosis of cancer leading to faster and more effective treatment. This could save the lives of patients living with cancer.

What are we doing?

Starting with non-small cell lung cancer patients as an exemplar, we will provide evidence for the expansion of ctDNA testing to support early diagnosis of cancer and diagnosis of cancer for patients who currently cannot have a tumour biopsy or do not yet have a confirmed diagnosis.

Samples are being taken from patients with non-small cell lung cancer. A sample of blood can be used to look for and measure the amount of ctDNA and identify specific mutations (changes) in the DNA.

Why is this important?

The NHS has a clear ambition to prevent cancer wherever possible.

If we can identify people who have lung cancer without the need for surgery, this will greatly benefit patients.

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.