Developing a Next Generation Sequencing Assay for the Clinic

Acute Myeloid Leukemia (AML) is a malignancy of bone marrow stem/progenitor cells, and accounts for ~20,000 new cases per year in the United States. The 5 year survival rate is ~26%.  The mutation burden in many AML cases is... [ view full abstract ]

Acute Myeloid Leukemia (AML) is a malignancy of bone marrow stem/progenitor cells, and accounts for ~20,000 new cases per year in the United States. The 5 year survival rate is ~26%.  The mutation burden in many AML cases is very low,  and risk stratification of AML patients is still highly uncertain for most patients, making treatment decisions difficult.  In this presentation, we will describe methods utilizing next generation sequencing technologies, including hybrid capture, deep short read Illumina-based sequencing, and clonality analyses empowered by deep digital read counts, to better understand the evolution or clearance of disease after initial treatment.   Additionally, we will compare two exome sequencing methods as we work towards the development of a rapid turnaround clinical assay that is designed to improve risk assessment for difficult to classify patients.