Danielle Bertout

Helios Scholar

Acute myeloid leukemia (AML) is a rapidly developing and progressive blood cancer of the bone marrow characterized by the accelerated proliferation of myeloid blast cells with an average five-year survival rate of approximately 30%. This abnormal cellular expansion severely inhibits the production of healthy blood cells leading to anemia and infection. Treatment must often be started immediately to prevent a life-threatening situation. General chemo and or radiation therapies are started prior to identifying the best personalized treatments via genetic classification. To identify the right targeted therapies, three gold standard classification tests are run: cytogenetics, fluorescent in situ hybridization (FISH), and targeted sequencing. These three tests, however, can take two to four weeks or longer to return results. During this time the patient is enduring rigorous treatments that weaken their body along with the stress of waiting for a specific prognosis and treatment plan. Using a whole genome sequencing clinical test called ALTseq, AML patients can receive results in just 48 hours. Along with a quick turnaround time, the assay is often more precise than the current gold standard test due to its superior resolution. By providing results so quickly we hope to reduce the stress of waiting for genetic testing, decrease the patient’s hospital stay, and get targeted therapies to patients sooner. Ultimately, we hope this test will increase survival rates of patients with AML.