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. Hays; Stu 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

doi:10.1586/14737159.2016.1146593

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 journal › Review article › peer-review

53 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 language	English (US)
Pages (from-to)	521-532
Number of pages	12
Journal	Expert Review of Molecular Diagnostics
Volume	16
Issue number	5
DOIs	https://doi.org/10.1586/14737159.2016.1146593
State	Published - May 3 2016

Bibliographical note

Publisher Copyright:
© 2016 The Author(s). Published by Taylor & Francis.

Keywords

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access

10.1586/14737159.2016.1146593

OpenUrl availability

Full text

Cite this

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

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 2016, 'Toward clinical genomics in everyday medicine: Perspectives and recommendations', Expert Review of Molecular Diagnostics, vol. 16, no. 5, pp. 521-532. https://doi.org/10.1586/14737159.2016.1146593

@article{12bd297c99cd4aa8810304af1585338e,

title = "Toward clinical genomics in everyday medicine: Perspectives and recommendations",

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 sequencing, genomic data, practice standards, precision medicine",

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

note = "Publisher Copyright: {\textcopyright} 2016 The Author(s). Published by Taylor & Francis.",

year = "2016",

month = may,

day = "3",

doi = "10.1586/14737159.2016.1146593",

language = "English (US)",

volume = "16",

pages = "521--532",

journal = "Expert Review of Molecular Diagnostics",

issn = "1473-7159",

publisher = "Expert Reviews Ltd.",

number = "5",

}

TY - JOUR

T1 - Toward clinical genomics in everyday medicine

T2 - Perspectives and recommendations

AU - Delaney, Susan K.

AU - Hultner, Michael L.

AU - Jacob, Howard J.

AU - Ledbetter, David H.

AU - McCarthy, Jeanette J.

AU - Ball, Michael

AU - Beckman, Kenneth B.

AU - Belmont, John W.

AU - Bloss, Cinnamon S.

AU - Christman, Michael F.

AU - Cosgrove, Andy

AU - Damiani, Stephen A.

AU - Danis, Timothy

AU - Delledonne, Massimo

AU - Dougherty, Michael J.

AU - Dudley, Joel T.

AU - Faucett, W. Andrew

AU - Friedman, Jennifer R.

AU - Haase, David H.

AU - Hays, Tom S.

AU - Heilsberg, Stu

AU - Huber, Jeff

AU - Kaminsky, Leah

AU - Ledbetter, Nikki

AU - Lee, Warren H.

AU - Levin, Elissa

AU - Libiger, Ondrej

AU - Linderman, Michael

AU - Love, Richard L.

AU - Magnus, David C.

AU - Martland, Annemarie

AU - McClure, Susan L.

AU - Megill, Scott E.

AU - Messier, Helen

AU - Nussbaum, Robert L.

AU - Palaniappan, Latha

AU - Patay, Bradley A.

AU - Popovich, Bradley W.

AU - Quackenbush, John

AU - Savant, Mark J.

AU - Su, Michael M.

AU - Terry, Sharon F.

AU - Tucker, Steven

AU - Wong, William T.

AU - Green, Robert C.

PY - 2016/5/3

Y1 - 2016/5/3

N2 - 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.

AB - 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.

KW - Personalized medicine

KW - clinical genomics

KW - exome

KW - genetic testing

KW - genome sequencing

KW - genomic data

KW - practice standards

KW - precision medicine

UR - http://www.scopus.com/inward/record.url?scp=84959048335&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84959048335&partnerID=8YFLogxK

U2 - 10.1586/14737159.2016.1146593

DO - 10.1586/14737159.2016.1146593

M3 - Review article

C2 - 26810587

AN - SCOPUS:84959048335

SN - 1473-7159

VL - 16

SP - 521

EP - 532

JO - Expert Review of Molecular Diagnostics

JF - Expert Review of Molecular Diagnostics

IS - 5

ER -

Toward clinical genomics in everyday medicine: Perspectives and recommendations

Abstract

Bibliographical note

Keywords

UN SDGs

Access

OpenUrl availability

Other files and links

Fingerprint

Cite this