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Expert Rev Mol Diagn DOI:10.1586/14737159.2016.1146593

Toward clinical genomics in everyday medicine: perspectives and recommendations.

Publication TypeJournal Article
Year of Publication2016
AuthorsDelaney, 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, W Faucett, A, 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, AM, 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
JournalExpert Rev Mol Diagn
Date Published2016
KeywordsDelivery of Health Care, Genetic Testing, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Precision Medicine, Reagent Kits, Diagnostic

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.


Alternate JournalExpert Rev. Mol. Diagn.
PubMed ID26810587
PubMed Central IDPMC4841021
Grant List2P50 CA127003 / CA / NCI NIH HHS / United States
5R01 HL090506 / HL / NHLBI NIH HHS / United States
U41-HG006834 / HG / NHGRI NIH HHS / United States
R01-HG005092 / HG / NHGRI NIH HHS / United States
U19-HD077671 / HD / NICHD NIH HHS / United States
R01GM44757 / GM / NIGMS NIH HHS / United States
U01-HG006500 / HG / NHGRI NIH HHS / United States
5P01HL105339 / HL / NHLBI NIH HHS / United States
U01-HG008685 / HG / NHGRI NIH HHS / United States