Blood test for AML genetic changes is expected to help predict the disease. Credit: Wheeler Cowperthwaite.

Researchers from Wellcome Sanger Institute and European Bioinformatics Institute (EMBL-EBI) have revealed that a blood test for changes in the DNA code can help predict a patient’s risk of developing acute myeloid leukaemia (AML) years before a positive diagnosis.

During a study conducted in collaboration with international scientists, the UK researchers observed genetic changes in the blood of AML patients, years prior to their abrupt development of the cancer.

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The researchers hope to conduct additional research to enable the earlier identification and monitoring of people who are at future risk of AML, and pave way for approaches to decrease the likelihood of this leukaemia.

“As the majority of the acute myeloid leukaemia (AML) patients had specific genetic changes that were unique from those without the disease, the researchers plan to develop a predictive test based on these mutations.”

Study first author Dr Grace Collord said: “Acute myeloid leukaemia often appears very suddenly in patients, so we were surprised to discover that its origins are generally detectable more than five years before the disease develops.

“This provides proof-of-principle that it may be possible to develop tests to identify people at a high risk of developing AML.”

The blood samples for the study were from people who enrolled in the European Prospective Investigation into Cancer and Nutrition (EPIC) study initiated in 1992 to collect cancer development and lifestyle data.

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During the latest research, blood DNA of 124 people who went on to develop AML was compared to that from 676 who remained free from AML or a related cancer.

As the majority of the AML patients had specific genetic changes that were unique from those without the disease, the researchers plan to develop a predictive test based on these mutations.

However, further research is necessary to improve the accuracy of the predictive test for clinical use and to aid in creating preventive treatments for the cancer.

Project joint leader Dr George Vassiliou said: “Our study provides for the first time evidence that we can identify people at risk of developing AML many years before they actually develop this life-threatening disease.

“We hope to build on these findings to develop robust screening tests for identifying those at risk and drive research into how to prevent or stall progression towards AML.”