• Joseph G Vockley and John E Niederhuber.
• Inova Translational Medicine Institute, Inova Fairfax Medical Center, Falls Church, VA 22042, USA Virginia Commonwealth University, School of Medicine, Richmond, VA, USA Joe.Vockley@inova.org.
• BMJ. 2015 May 28; 350: h1832.

AbstractThe field of cancer diagnostics is in constant flux as a result of the rapid discovery of new genes associated with cancer, improvements in laboratory techniques for identifying disease causing events, and novel analytic methods that enable the integration of many different types of data. These advances have helped in the identification of novel, informative biomarkers. As more whole genome sequence data are generated and analyzed, emerging information on the baseline variability of the human genome has shown the importance of the ancestral genomic background in patients with a potential disease causing variant. The recent discovery of many novel DNA sequence variants, advances in sequencing and genomic technology, and improved analytic methods enable the impact of germline and somatic genome variation on tumorigenesis and metastasis to be determined. New molecular targets and companion diagnostics are changing the way geneticists and oncologists think about the causes, diagnosis, and treatment of cancer. © BMJ Publishing Group Ltd 2015.

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