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Diverse perspectives on the current state of genomic medicine: has the revolution begun?

Genome Medicine
Springer (Biomed Central Ltd.)
Publication Date
DOI: 10.1186/gm241
  • Meeting Report
  • Biology
  • Medicine


MacDermed.indd Scripps Translational Science Institute (STSI, La Jolla, USA) hosted its 4th ‘Future of Genomic Medicine’ meeting, to promote the transformation of medicine using genomics. Th e conference focused on recent advances in whole genome and exome sequencing, gene expression tests for routine medical practice, and consumer genomics. Clinically relevant genomic advances in cancer, diabetes and heart disease were discussed. ‘Views from the Outside’ sessions featured journalists, entrepreneurs and public fi gures presenting their perspectives on genomic medicine. Th e speakers provided evidence that a revolution in genomic medicine is underway and involves not only medical doctors and scientists, but also those outside of the traditional scientifi c community. Here, we summarize some of the highlights of the medical advances and social implications discussed at this extraordinary meeting. Advances in genomic medicine are already at the bedside Genetic diagnostic tests, including whole genome sequencing, are already improving patient care. Gene expression profi ling in peripheral blood constitutes the basis for an FDA-approved, cost-eff ective heart transplant rejection risk test. Matthew Price (Scripps Clinic, USA) described the use of the rapid point of care CYP2C19 genotyping test to identify patients with cardiac stents who will benefi t from clopidogrel, and the use of gene expression signatures such as CorusTM CAD (CardioDX®, Palo Alto, CA, USA) to detect coronary artery disease (CAD). Along the same lines, oncology experts described gene-profi ling-based diagnostic and prognostic tests such as MammaPrint® (Agendia, Amsterdam, Th e Netherlands), Pathwork® Tissue of Origin (Pathwork Diagnostics, Redwood City, CA, USA), and Oncotype DX® (Genomic Health, Inc., Redwood City, CA, USA). Steven Shak (Genomic Health, Inc.), a developer of Oncotype DX®, pointed to a road map for developing similar tests by fi rst identifying a clear clinical dilemma

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