Cancer detection using whole-genome sequencing of cell free DNA

Biomarkers are molecules whose detection provide valuable information regarding human disease. They may herald the presence of a disease or provide information regarding the course of disease and response to treatment. Historically, cancer biomarkers have been based on aberrant protein expression in a subset of tumor types (e.g. CEA in colorectal cancer, PSA in prostate cancer, and CA19-9 in ovarian cancer). Although protein biomarkers have been useful in cancer over the past several decades, their correlation with disease could be improved by the development of more sensitive, specific, and widely applicable cancer biomarkers. We have recently developed a non-invasive approach using whole-genome sequencing to identify chromosomal alterations in the circulation of cancer patients [1]. Cell-free DNA