I learned this week of the tragic death of an old childhood friend called Julie of myeloid leukaemia.

It reminded me of one of the research studies I worked on during my stint at the media office in the Wellcome Trust Sanger Institute this summer. Most scientific research projects require further studies as they lead to more discoveries that need to be made before their findings can be used for clinical benefits.

However, in this case, the findings can be used very soon by doctors who can take a simple blood test instead of a bone marrow biopsy to make a diagnosis. You can read the press release here. It describes how a genomic study of chronic blood cancer – a precursor to leukaemia – has discovered gene mutations that could enable diagnosis using only a blood test, avoiding the need for an invasive and painful bone marrow biopsy.

The findings have significant potential for clinical benefit as the disease is often under-diagnosed. It is hoped that patients will soon be able to be screened for mutations in the SF3B1 gene through a single blood test.

If only poor Julie could have benefited from this….