Interview: Acute myeloid leukemia patient genome interview

The anonymous patient (AML2) who took part in this interview is one of approximately 180 patients that Dr Timothy J Ley from the Washington University School of Medicine (St. Louis, MO, USA) and his leukemia colleagues accrued for their study investigating the genetics of acute myeloid leukemia (AML) from the beginning of the year 2000. His team of researchers used a fledgling PCR-based re-sequencing pipeline to target and sequence various suspect/candidate genes in AML. However, this search for new genes that are frequently mutated in AML proved to be largely unsuccessful and led to the notion of whole-genome re-sequencing (e.g., that of an unbiased look at all genes and structural changes). Therefore, the sequencing of this interviewee's genome followed the researchers' first AML genome case, published in Nature on 6 November 2008 [1] , and since the first patient that they sequenced was a female (now deceased of her disease), they decided to choose a male patient in remission from the disease but with the same AML subtype (M1). Hence, AML2 was sequenced and analyzed - they identified recurring mutations that may be relevant for the pathogenesis of the disease. They subsequently published their results in the New England Journal of Medicine on 10 September 2009 [2] . The ultimate goal of their research is to change the 'standard of care' for AML patients, since for the last 25 years, doctors have been treating every AML patient in basically the same way, never knowing who will respond and go into remission, or who will not respond and will need a bone marrow transplant.