Blood test may detect 10 types of cancer before tumour develops

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A blood test able to detect 10 types of cancer years before a person falls ill could become available on the UK’s National Health Service (NHS) within five years, scientists say. The Daily Telegraph reports that the breakthrough is being hailed as a major step towards the “holy grail” of curing cancer after trials on 1,400 patients found the simple procedure worked with up to 90% accuracy.

Experts said the findings could pave the way for an almost universal NHS screening programme that could detect warning signs of disease long before it developed, vastly improving survival chances.

Simon Stevens, CEO of NHS England, said such breakthroughs were part of major changes which “would unlock enormous survival gains” across the health service. “As the NHS marks its 70th anniversary, we stand on the cusp of a new era of personalised medicine that will dramatically transform care for cancer and for inherited and rare diseases. In particular, new techniques for precision early diagnosis would unlock enormous survival gains, as well as dramatic productivity benefits in the practice of medicine,” he said.

The report says US scientists found the simple test was able to identify genetic traces of cancers including those which are notoriously hard to detect – such as pancreatic and ovarian disease. The new approach promises to transform outcomes by looking for fragments of DNA released into the blood stream by fast-growing cancer cells.

Dr Eric Klein, the lead author, from the Cleveland Centre in Ohio, said: “This is potentially the holy grail of cancer research, to find cancers that are currently hard to cure at an earlier stage when they are easier to cure, and we hope this test could save many lives.

“Most cancers are detected at a late stage, but this ‘liquid biopsy’ gives us the opportunity to find them months or years before someone would develop symptoms and be diagnosed.”

The results, presented at the annual conference of the American Society of Clinical Oncology in Chicago, come from research on more than 1,600 adults, of whom 749 were cancer-free, while 878 had been newly diagnosed with the disease.

The tests found early warning signs in the blood for 10 types of cancer with accuracy of more than 50%. The best results were for ovarian and pancreatic cancer, diagnosing 90% and 80% of people with these diseases.

Four out of five people were also successfully diagnosed with liver and gall bladder cancers. For blood cancers lymphoma and myeloma, it was 77% and 73% accurate, while it correctly diagnosed two-thirds of people with bowel cancer.

The results for triple-negative breast cancer were 58% and the test also detects lung, gullet and head and neck cancers with more than 50% accuracy. It was less successful in picking up stomach, uterine and early-stage low-grade prostate cancer.

Klein, whose research team also involved Stanford University, said: “Potentially this test could be used for everybody, regardless of their family history. “It is several steps away, and more research is needed, but it could be given to healthy adults of a certain age, such as those over 40, to see if they have early signs of cancer.”

The report says the test uses whole genome sequencing, of the type people use to check their family trees and chances of illness on websites like 23 and Me. But experts say it is much more sensitive than previous tests.

Currently, for cancer, there is just one blood test available to diagnose people before they find a lump or initial symptom. This is the notoriously unreliable PSA test for prostate cancer.

The new test has three parts, testing the whole genome for DNA fragments first, then searching for specific genetic mutations and finally DNA methylation – a process which changes the way genes work when someone has cancer. Scientists said the tests – likely to cost between £500 and £1,000 – would be able to deliver results in less than two weeks.

It is part of a new generation of “liquid biopsies” which have advantages for early detection of cancer over traditional biopsies which remove tissue, such as part of the breast or lung, from someone’s body.

Professor Nicholas Turner, from the Institute of Cancer Research in London, described the findings as “really exciting” – and said the tests could form part of a “universal screening programme”. He said: “Far too many cancers are picked up too late, when it is no longer possible to operate and the chances of survival are slim.

“The goal is to develop a blood test, such as this one, that can accurately identify cancers in their earliest stages.

“This particular test is really exciting but it is likely to be a few years before it is ready for clinical use.”

Fiona Osgun, from Cancer Research UK, said: “The idea that we could one day offer people a blood test that could find cancer earlier is certainly exciting. Detecting cancer early, before it has spread, is one of the most powerful ways to ensure more people are offered treatments which give them a better chance of beating the disease.

“There’s still a lot more research needed to achieve this goal. This blood test was better at picking up certain cancers than others so we need further trials to test its accuracy and also determine whether it will help save lives.”

Background: Globally most cancers are detected at advanced stages with high treatment burden and low cure rates. A noninvasive cfDNA blood test detecting multiple cancers at early stages when curative treatment is more likely to succeed is desirable. CCGA (NCT02889978) is a prospective multi-center observational study for development of a noninvasive cfDNA-based multi-cancer detection assay.
Methods: Prospectively collected samples (N = 1627) from 749 controls (no cancer diagnosis, C) and 878 participants (pts) with newly diagnosed untreated cancer (20 tumor types, all stages) were analyzed in a preplanned substudy. 3 prototype sequencing assays were performed: paired cfDNA and white blood cell (WBC, 60,000X) targeted sequencing (507 genes) for single nucleotide variants/indels; paired cfDNA and WBC whole genome sequencing (WGS, 30X) for copy number variation; cfDNA whole genome bisulfite sequencing (WGBS, 30X) for methylation. For each assay a detection model was developed for all cancer pts; sensitivity was estimated at 95% specificity.
Results: Pts w/cancer and C had similar age, smoking status and gender. WGBS had the highest sensitivity and is reported here; results were consistent across assays. Detected (sensitivity [95% CI]) cancers (stage I-III) included 28 colorectal (66% [48-84]), 19 esophageal (63% [38-84]), 5 head and neck (56% [21-86]), 5 hepatobiliary (80% [28-99]), 73 lung (59% [47-70]), 17 lymphoma (77% [50-93]), 11 multiple myeloma (73% [39-94]), 10 ovarian (90% [56-99]), and 10 pancreatic (80% [44-98]). Breast cancer-specific assay results are reported separately. Cancers with low signal ( < 10% sensitivity) include low gleason score prostate cancer, thyroid, uterine, melanoma, and renal. Comparison to tumor WGS and multi-assay classification will be reported.
Conclusions: A cfDNA-based blood test detected multiple cancers at various stages with high specificity, indicating this approach is promising as a multi-cancer screening test, including for lethal unscreened cancers where stage shift can impact mortality. Further assay and clinical development of a multi-cancer cfDNA test in an asymptomatic population is ongoing.

Eric A Klein, Earl Hubbell, Tara Maddala, Alex Aravanis, John F Beausang, Darya Filippova, Samuel Gross, Arash Jamshidi, Kathryn Kurtzman, Ling Shen, Anton Valouev, Oliver Venn, Nan Zhang, David A Smith, Timothy Joseph Yeatman, Robert Tibshirani, Richard Thomas Williams, Anne-Renee Hartman, Michael Seiden, Minetta C Liu

The Daily Telegraph report
ASCO 2018 abstract

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