New Test Detects Difficult-to-Diagnose Chronic Blood Cancer

Scientists have developed a new blood test that can accurately diagnose certain types of blood cancers that were hard-to-detect till date. The new test will also help patients avoid undergoing multiple, invasive and painful methods involved with diagnosing certain types of chronic blood cancers.

"Diagnosing these chronic blood cancers is currently difficult and requires multiple tests, some of which are invasive and painful. Now, most patients with a suspected blood cancer will be able to be given a diagnosis after a simple blood test," Professor Tony Green, who led the research, said in a news release.

Of the total blood cancer cases, nearly 60 percent is caused by mutations in a gene called JAK2. The current blood test used to diagnose blood cancer works by identifying mutation in the gene.  However, it is not necessary that the gene should be present in every patient. So getting a negative JAK2 test report means, the person has to undergo more invasive types of tests to decide whether he/she is suffering from the disease.

To make the whole process easy and simple, a team of researchers from the University of Cambridge and Wellcome Trust Sanger Institute in the UK joined hands and tried to identify factors that played a major role in rest of the blood cancers.  For the study, researchers selected a group of patients suffering from chronic blood disorders. On sequencing the patients' DNA, the researchers identified a new gene called CALR, mutation in which was associated with chronic blood cancer.  They also noticed a rise in platelet counts and a decline in hemoglobin levels associated with JAK2 mutation.

The new test will be available within one or two years.  "There is now a sense of completeness with these disorders - the vast majority of our patients can now have a definitive genetic diagnosis made. In the next year or two, we will see these genetic technologies increasingly used in the diagnosis of all cancers, especially blood cancers," Peter Campbell from the Sanger Institute, who co-led the research, said.

The study has been reported in the New England Journal of Medicine.