Toward clinical genomics in everyday medicine: Perspectives and recommendations

Susan K. Delaney, Michael L. Hultner, Howard J. Jacob, David H. Ledbetter, Jeanette J. McCarthy, Michael Ball, Kenneth B. Beckman, John W. Belmont, Cinnamon S. Bloss, Michael F. Christman, Andy Cosgrove, Stephen A. Damiani, Timothy Danis, Massimo Delledonne, Michael J. Dougherty, Joel T. Dudley, W. Andrew Faucett, Jennifer R. Friedman, David H. Haase, Tom S. HaysStu Heilsberg, Jeff Huber, Leah Kaminsky, Nikki Ledbetter, Warren H. Lee, Elissa Levin, Ondrej Libiger, Michael Linderman, Richard L. Love, David C. Magnus, Annemarie Martland, Susan L. McClure, Scott E. Megill, Helen Messier, Robert L. Nussbaum, Latha Palaniappan, Bradley A. Patay, Bradley W. Popovich, John Quackenbush, Mark J. Savant, Michael M. Su, Sharon F. Terry, Steven Tucker, William T. Wong, Robert C. Green

Research output: Contribution to journalReview article

40 Scopus citations

Abstract

Precision or personalized medicine through clinical genome and exome sequencing has been described by some as a revolution that could transform healthcare delivery, yet it is currently used in only a small fraction of patients, principally for the diagnosis of suspected Mendelian conditions and for targeting cancer treatments. Given the burden of illness in our society, it is of interest to ask how clinical genome and exome sequencing can be constructively integrated more broadly into the routine practice of medicine for the betterment of public health. In November 2014, 46 experts from academia, industry, policy and patient advocacy gathered in a conference sponsored by Illumina, Inc. To discuss this question, share viewpoints and propose recommendations. This perspective summarizes that work and identifies some of the obstacles and opportunities that must be considered in translating advances in genomics more widely into the practice of medicine.

Original languageEnglish (US)
Pages (from-to)521-532
Number of pages12
JournalExpert Review of Molecular Diagnostics
Volume16
Issue number5
DOIs
StatePublished - May 3 2016

Keywords

  • Personalized medicine
  • clinical genomics
  • exome
  • genetic testing
  • genome sequencing
  • genomic data
  • practice standards
  • precision medicine

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    Delaney, S. K., Hultner, M. L., Jacob, H. J., Ledbetter, D. H., McCarthy, J. J., Ball, M., Beckman, K. B., Belmont, J. W., Bloss, C. S., Christman, M. F., Cosgrove, A., Damiani, S. A., Danis, T., Delledonne, M., Dougherty, M. J., Dudley, J. T., Faucett, W. A., Friedman, J. R., Haase, D. H., ... Green, R. C. (2016). Toward clinical genomics in everyday medicine: Perspectives and recommendations. Expert Review of Molecular Diagnostics, 16(5), 521-532. https://doi.org/10.1586/14737159.2016.1146593