Machine Learning to Predict Disease Etiology and Treatment Decisions

Acquired bone marrow failure (BMF) is caused by immune-mediated destruction of hematopoietic stem and progenitor cells. Inherited BMF is caused by pathogenic germline variants in a range of genes critical for the maintenance, self-renewal, differentiation and genomic stability; examples include telomere biology disorders or phonconia anemia. A machine learning model was developed using 25 clinical and laboratory variables available at diagnosis to help guide treatment decisions. It correctly predicted inherited and likely immune BMF in 79% to 92% of cases respectively.