Intended for healthcare professionals

Clinical Review State of the Art Review

Diagnosis and treatment of cancer using genomics

BMJ 2015; 350 doi: (Published 28 May 2015) Cite this as: BMJ 2015;350:h1832
  1. Joseph G Vockley , chief scientific officer, professor of pediatrics 1 2,
  2. John E Niederhuber , chief executive officer, professor 1 3
  1. 1Inova Translational Medicine Institute, Inova Fairfax Medical Center, Falls Church, VA 22042, USA
  2. 2Virginia Commonwealth University, School of Medicine, Richmond, VA, USA
  3. 3Johns Hopkins University, School of Medicine, Baltimore, MD, USA
  1. Correspondence to: J Vockley Joe.Vockley{at}


The 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.


  • Contributors: JGV performed the literature searches and was the main writer. JEN generated the initial outline for the review, provided feedback on the article’s content, and reviewed the article before submission. JGV is guarantor.

  • Competing interests: We have read and understood BMJ policy on declaration of interests and declare the following interests: none.

  • Provenance and peer review: Commissioned; externally peer reviewed.

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