Toward Clinical Genomics in Everyday Medicine: Perspectives and Recommendations

Expert Rev Mol Diagn. 2016;16(5):521-32. doi: 10.1586/14737159.2016.1146593. Epub 2016 Feb 24.

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.

Keywords: Personalized medicine; clinical genomics; exome; genetic testing; genome; genomic data; practice standards; precision medicine; sequencing.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Delivery of Health Care / methods
  • Delivery of Health Care / organization & administration*
  • Genetic Testing
  • Genome, Human*
  • Genomics / instrumentation
  • Genomics / methods*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Precision Medicine / trends*
  • Reagent Kits, Diagnostic

Substances

  • Reagent Kits, Diagnostic