Blood test could pick up risk of cancer five years in advance, say Harvard scientists

"People often think about disease in black and white - that there's 'healthy' and there's 'disease' - but in reality most disease develops gradually over months or years, said assistant professor and senior author Steven McCarroll at Harvard Medical School.

The mutations are thought to originate in blood stem cells, which then produce mutated cells which reproduce at an accelerated rate until they account for a large fraction of the cells in a person's blood.

"Cancer is the end-stage of the process," said Siddhartha Jaiswal, a Broad associated scientist and clinical fellow from Massachusetts General Hospital who was first author of Ebert's paper.

"By the time a cancer has become clinically detectable it has accumulated several mutations that have evolved over many years. What we are primarily detecting here is an early, pre-malignant stage in which the cells have acquired just one initiating mutation."

Individuals with these mutations had a higher risk of Type 2 diabetes, coronary heart disease, and ischemic stroke as well.

The researchers involved emphasised that there is no clinical benefit today for testing for the mutations as there are currently no treatments that can prevent blood cancer.

However, they say the results open the door to entirely new directions for blood cancer research, toward early detection and even prevention.

"The results demonstrate a way to identify high-risk cohorts - people who are at much higher than average risk of progressing to cancer - which could be a population for clinical trials of future prevention strategies," added Prof McCarroll.

"The abundance of these mutated cells could also serve as a biomarker - like LDL cholesterol is for cardiovascular disease - to test the effects of potential prevention therapies in clinical trials."

The research was published in New England Journal of Medicine.

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Blood test could pick up risk of cancer five years in advance, say Harvard scientists