. 2016;16(5):521-32.

doi: 10.1586/14737159.2016.1146593. Epub 2016 Feb 24.

Toward clinical genomics in everyday medicine: perspectives and recommendations

Susan K Delaney¹, Michael L Hultner², Howard J Jacob³, David H Ledbetter⁴, Jeanette J McCarthy⁵, Michael Ball⁶, Kenneth B Beckman⁷, John W Belmont⁸, Cinnamon S Bloss⁹, Michael F Christman¹, Andy Cosgrove¹⁰, Stephen A Damiani^{11

12}, Timothy Danis¹³, Massimo Delledonne¹⁴, Michael J Dougherty^{15

16}, Joel T Dudley¹⁷, W Andrew Faucett⁴, Jennifer R Friedman¹⁸, David H Haase¹⁹, Tom S Hays²⁰, Stu Heilsberg¹⁰, Jeff Huber²¹, Leah Kaminsky²², Nikki Ledbetter⁴, Warren H Lee²³, Elissa Levin¹⁷, Ondrej Libiger²⁴, Michael Linderman¹⁷, Richard L Love¹³, David C Magnus²⁵, AnneMarie Martland²⁴, Susan L McClure²⁶, Scott E Megill²⁷, Helen Messier²⁸, Robert L Nussbaum²⁹, Latha Palaniappan³⁰, Bradley A Patay³¹, Bradley W Popovich³², John Quackenbush³³, Mark J Savant³⁴, Michael M Su³⁵, Sharon F Terry³⁶, Steven Tucker³⁷, William T Wong³⁸, Robert C Green³⁹

Affiliations

¹ a Coriell Institute for Medical Research , Camden , NJ , USA.
² b Lockheed Martin , Information Systems & Global Solutions , Rockville , MD , USA.
³ c HudsonAlpha Institute for Biotechnology , Huntsville , AL , USA.
⁴ d Geisinger Health System , Danville , PA , USA.
⁵ e Duke University , Center for Applied Genomics and Precision Medicine , Durham , NC , USA.
⁶ f GenoLogics , Redwood City , CA , USA.
⁷ g University of Minnesota , Genomics Center ,, Minneapolis , MN , USA.
⁸ h Baylor College of Medicine , Children's Nutrition Research Center , Houston , TX , USA.
⁹ i University of California, San Diego , School of Medicine , La Jolla , CA , USA.
¹⁰ j Medullan Inc ., Cambridge , MA , USA.
¹¹ k Mission Massimo Foundation , Elsternwick , VIC , Australia .
¹² l Mission Massimo Foundation Inc ., Westlake Village , CA , USA.
¹³ m PMed Management, LLC , Phoenix , AZ USA.
¹⁴ n University of Verona , 37134 Verona , Italy.
¹⁵ o The American Society of Human Genetics , Bethesda , MD , USA.
¹⁶ p Department of Pediatrics , University of Colorado School of Medicine , Aurora , CO , USA.
¹⁷ q Icahn School of Medicine at Mount Sinai , New York , NY , USA.
¹⁸ r University of California, San Diego , Departments of Neurosciences and Pediatrics and Rady Children's Hospital , San Diego , CA , USA.
¹⁹ s Maxwell Clinic , Clarksville , TN , USA.
²⁰ t University of Minnesota , Department of Genetics, Cell Biology and Development , Minneapolis , MN , USA.
²¹ u Google Inc ., Mountain View , CA , USA.
²² v Elwood Family Clinic , Elwood , VIC , Australia.
²³ w Life Letters , Sydney , NSW , Australia.
²⁴ x MD Revolution , San Diego , CA , USA.
²⁵ y Stanford Center for Biomedical Ethics , Stanford School of Medicine , Stanford , CA , USA.
²⁶ z Genome magazine , Big Science Media , Plano , TX , USA.
²⁷ aa Coriell Life Sciences , Camden , NJ , USA.
²⁸ ab Healix Health, Ltd , West Vancouver , BC , Canada.
²⁹ ac Invitae Corp ., San Francisco , CA , USA.
³⁰ ad Stanford University , Palo Alto , CA , USA.
³¹ ae Scripps Clinic Medical Group , La Jolla , CA , USA.
³² af Genome British Columbia , Vancouver , BC , Canada.
³³ ag Dana-Farber Cancer Institute , Boston , MA , USA.
³⁴ ah Savant Wellness , San Francisco , CA , USA.
³⁵ ai Anthem Blue Cross , Woodland Hills , CA , USA.
³⁶ aj Genetic Alliance , Washington , DC , USA.
³⁷ ak Novena Specialist Center , Singapore , Republic of Singapore.
³⁸ al Cancer Commons , Palo Alto , CA , USA.
³⁹ am Division of Genetics, Department of Medicine, Brigham and Women's Hospital , the Broad Institute, Harvard Medical School and Partners Healthcare Personalized Medicine , Boston , MA , USA.

PMID: 26810587
PMCID: PMC4841021
DOI: 10.1586/14737159.2016.1146593

Toward clinical genomics in everyday medicine: perspectives and recommendations

Susan K Delaney et al. Expert Rev Mol Diagn. 2016.

. 2016;16(5):521-32.

doi: 10.1586/14737159.2016.1146593. Epub 2016 Feb 24.

Authors

Affiliations

¹ a Coriell Institute for Medical Research , Camden , NJ , USA.
² b Lockheed Martin , Information Systems & Global Solutions , Rockville , MD , USA.
³ c HudsonAlpha Institute for Biotechnology , Huntsville , AL , USA.
⁴ d Geisinger Health System , Danville , PA , USA.
⁵ e Duke University , Center for Applied Genomics and Precision Medicine , Durham , NC , USA.
⁶ f GenoLogics , Redwood City , CA , USA.
⁷ g University of Minnesota , Genomics Center ,, Minneapolis , MN , USA.
⁸ h Baylor College of Medicine , Children's Nutrition Research Center , Houston , TX , USA.
⁹ i University of California, San Diego , School of Medicine , La Jolla , CA , USA.
¹⁰ j Medullan Inc ., Cambridge , MA , USA.
¹¹ k Mission Massimo Foundation , Elsternwick , VIC , Australia .
¹² l Mission Massimo Foundation Inc ., Westlake Village , CA , USA.
¹³ m PMed Management, LLC , Phoenix , AZ USA.
¹⁴ n University of Verona , 37134 Verona , Italy.
¹⁵ o The American Society of Human Genetics , Bethesda , MD , USA.
¹⁶ p Department of Pediatrics , University of Colorado School of Medicine , Aurora , CO , USA.
¹⁷ q Icahn School of Medicine at Mount Sinai , New York , NY , USA.
¹⁸ r University of California, San Diego , Departments of Neurosciences and Pediatrics and Rady Children's Hospital , San Diego , CA , USA.
¹⁹ s Maxwell Clinic , Clarksville , TN , USA.
²⁰ t University of Minnesota , Department of Genetics, Cell Biology and Development , Minneapolis , MN , USA.
²¹ u Google Inc ., Mountain View , CA , USA.
²² v Elwood Family Clinic , Elwood , VIC , Australia.
²³ w Life Letters , Sydney , NSW , Australia.
²⁴ x MD Revolution , San Diego , CA , USA.
²⁵ y Stanford Center for Biomedical Ethics , Stanford School of Medicine , Stanford , CA , USA.
²⁶ z Genome magazine , Big Science Media , Plano , TX , USA.
²⁷ aa Coriell Life Sciences , Camden , NJ , USA.
²⁸ ab Healix Health, Ltd , West Vancouver , BC , Canada.
²⁹ ac Invitae Corp ., San Francisco , CA , USA.
³⁰ ad Stanford University , Palo Alto , CA , USA.
³¹ ae Scripps Clinic Medical Group , La Jolla , CA , USA.
³² af Genome British Columbia , Vancouver , BC , Canada.
³³ ag Dana-Farber Cancer Institute , Boston , MA , USA.
³⁴ ah Savant Wellness , San Francisco , CA , USA.
³⁵ ai Anthem Blue Cross , Woodland Hills , CA , USA.
³⁶ aj Genetic Alliance , Washington , DC , USA.
³⁷ ak Novena Specialist Center , Singapore , Republic of Singapore.
³⁸ al Cancer Commons , Palo Alto , CA , USA.
³⁹ am Division of Genetics, Department of Medicine, Brigham and Women's Hospital , the Broad Institute, Harvard Medical School and Partners Healthcare Personalized Medicine , Boston , MA , USA.

PMID: 26810587
PMCID: PMC4841021
DOI: 10.1586/14737159.2016.1146593

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.

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Figures

**Figure 1.**
Defining CGES use cases along the clinical care continuum and appropriate evidentiary thresholds for each.

**Figure 2.**
Harnessing the network effect of genome sequencing.

**Figure 3.**
Virtuous cycles possible for genomic data.

**Figure 4.**
Stakeholders collaborating to catalyze precision medicine.

See this image and copyright information in PMC

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References

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Toward clinical genomics in everyday medicine: perspectives and recommendations

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