GenePanelsAidDecision- Making for Hereditary MDS/AL Patients Myelodysplastic syndrome (MDS) and acute leukemia (AL) are both caused by blood cell abnormalities in the bone marrow. Inherited forms of these hematological malignancies, or blood cancers, have become more prevalent in recent years. Identifying patients with hereditary predisposition is important for stem cell transplantation, particularly during the donor selection process. The University of Chicago Med­ icine has the first laboratory to provide comprehensive clinical testing to evaluate genetic pre- disposition to MDS/AL. In a study led by Zejuan Li, MD, PhD, assis- tant professor of human genetics, and including Jane Churpek, MD, assistant professor of medicine, and Lucy Godley, MD, PhD, profes- sor of medicine, the researchers analyzed the prevalence of genetic variants in 197 adult and pediat- ric patients using a gene panel between October 2014 and June 2016. The study allowed researchers to identify the most common genetic mutations linked to hereditary MDS/AL, while demonstrating the important role genetic test- ing can play in the development of treatment plans. For example, one patient’s testing revealed a mutation that led to a diagnosis of Fanconi anemia. This revela- tion prompted significant changes to the patient’s chemotherapy regimen. In another instance, a patient’s sister was ruled out as a potential bone marrow donor when it was revealed that she too carried the same disease-causing genetic variant as her sibling. In addition, 44 percent of patients had negative testing results, sug- gesting that a considerable por- tion of genetic abnormalities in patients with a history of MDS/ AL predisposition have yet to be identified. Godley received funding from the Janet D. Rowley Discovery Fund, and Churpek’s research will be supported by the University of Chicago Cancer Research Foundation Auxiliary Board in Spring 2018. Churpek also received developmental funds from the UChicago Cancer Center Support Grant. 12 Powered by Innovation