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Genetic blood tests could revolutionise cancer care

NHS England have announced that liquid biopsy genomic tests for cancer are now available across England. The tests have the potential to accelerate diagnosis, improve use of tailored treatments and reduce healthcare costs.

The innovative liquid biopsy tests detect cancer by looking for fragments of circulating tumour DNA (ctDNA) in blood samples. They are now available through the NHS genomic medicine service.

This is a welcome innovation for patients with cancer across the UK. Using techniques pioneered in our region, we can detect genetic changes in cancer through a simple blood test. This means faster results, reducing the time our patients spend worrying and helping them to access the best treatments sooner.

Dr Brent O'Carrigan, Consultant Medical Oncologist, Addenbrooke’s Hospital and Clinical Cancer Lead, East Genomics

Around 15,000 people a year could have liquid biopsy tests to inform diagnosis and treatment of non-small cell lung cancer (NSCLC; Test M4.14) cancer.

A further 5,000 liquid biopsies could be used to guide the use of targeted treatments in people with advanced breast cancer (Test M3.13).

These tests have specialist referral requirements. Find out how to order.

Breast and lung cancers are two of the most common cancers in England – with around 50,000 breast cancer diagnoses and around 40,000 lung cancer diagnoses per year.

This represents a real step-change in care for eligible lung and breast cancer patients on the NHS… This test is a great example of the NHS harnessing the power of genomic technological advances to enable the latest groundbreaking treatment to be delivered to patients.

Professor Dame Sue Hill, Chief Scientific Officer for England

Liquid biopsies work because cancerous tumours release fragments of their DNA into the blood. Performing genetic tests using a blood sample is faster and less invasive than collecting a tissue biopsy.

In lung cancer diagnosis, speed is key and liquid biopsies can be run alongside existing tissue biopsies, potentially returning results much faster, allowing treatment to start sooner.

A successful pilot of 10,000 people with NSCLC included over 176 NHS Trusts and showed that liquid biopsies could significantly improve quality of life for many patients. Almost one in five patients (18%) tested received targeted therapies based on the genetic results.

In the pilot, patients were able to start treatment up to two weeks earlier than is possible using traditional tissue biopsies. Liquid biopsies also helped them to avoid additional tests or treatments, such as chemotherapy, where test results show they offer no additional benefits.

We have seen first-hand how the implementation of a simple blood-draw and testing in our laboratory has revolutionised treatment for lung cancer patients… Earlier access to highly effective targeted medicines allows more patients to avoid delays, start treatment early, and start the best treatment for their type of cancer.

Professor Sanjay Popat, Consultant Medical Oncologist at The Royal Marsden and Clinical-Co-Lead of the pilot

The NHS is exploring how the approach could be used for other cancers including pancreatic and gallbladder cancers.

Liquid biopsy tests detect genetic changes in ctDNA. These changes can inform the use of targeted therapies that are only effective in tumours that carry specific genetic drivers.

Rebeca Proctor, 41, from Carlisle, was diagnosed with stage 4 non-small-cell lung cancer. A liquid biopsy showed she had an ALK genetic mutation, which made her eligible for treatment with brigatinib.

When I found out I had stage 4 cancer it felt like I’d been punched in the gut… The medication has given me my life back and my kids have got their mum back – I’m taking it day-by-day and for now the treatment is doing what it’s meant to be doing and shrinking the tumour, and I’ve got my energy back.

Rebeca Proctor, living with NSCLC

Liquid biopsy tests for breast cancer can be used to inform use of targeted therapies, such as capivasertib, alpelesib and elacestrant, for eligible patients who do not respond to standard first-line treatment.

Read the full announcement from NHS England