A timely arrival for genomic medicine

  title={A timely arrival for genomic medicine},
  author={Alan N. Mayer and D. Dimmock and M. Arca and D. Bick and J. Verbsky and E. Worthey and H. Jacob and D. Margolis},
  journal={Genetics in Medicine},
In this issue of GIM,1 we describe a young boy who presented with unusually aggressive inflammatory bowel disease refractory to medical and surgical treatment. To reach a diagnosis, we were compelled to use genomic technology that, at the time, was not a clinically validated test. This case stimulated many discussions within our group and institution on the boundary between research and clinical care. Many of the same issues were raised again during review of the manuscript, further shaping our… Expand
78 Citations

Paper Mentions

Whole genomes, small children, big questions.
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Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
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