Toward clinical genomics in everyday medicine: perspectives and recommendations.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Delaney, SK; Hultner, ML; Jacob, HJ; Ledbetter, DH; McCarthy, JJ; Ball, M; Beckman, KB; Belmont, JW; Bloss, CS; Christman, MF; Cosgrove, A; Damiani, SA; Danis, T; Delledonne, M; Dougherty, MJ; Dudley, JT; Faucett, WA; Friedman, JR; Haase, DH; Hays, TS; Heilsberg, S; Huber, J; Kaminsky, L; Ledbetter, N; Lee, WH; Levin, E; Libiger, O; Linderman, M; Love, RL; Magnus, DC; Martland, A; McClure, SL; Megill, SE; Messier, H; Nussbaum, RL; Palaniappan, L; Patay, BA; Popovich, BW; Quackenbush, J; Savant, MJ; Su, MM; Terry, SF; Tucker, S; Wong, WT; Green, RC

Published Date

  • 2016

Published In

Volume / Issue

  • 16 / 5

Start / End Page

  • 521 - 532

PubMed ID

  • 26810587

Pubmed Central ID

  • PMC4841021

Electronic International Standard Serial Number (EISSN)

  • 1744-8352

Digital Object Identifier (DOI)

  • 10.1586/14737159.2016.1146593


  • eng

Conference Location

  • England