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.
authors.affiliation: a Coriell Institute for Medical Research , Camden , NJ , USA.
authors.forename: Susan K
authors.initials: SK
authors.lastname: Delaney
authors.affiliation: b Lockheed Martin , Information Systems & Global Solutions , Rockville , MD , USA.
authors.forename: Michael L
authors.initials: ML
authors.lastname: Hultner
authors.affiliation: c HudsonAlpha Institute for Biotechnology , Huntsville , AL , USA.
authors.forename: Howard J
authors.initials: HJ
authors.lastname: Jacob
authors.affiliation: d Geisinger Health System , Danville , PA , USA.
authors.forename: David H
authors.initials: DH
authors.lastname: Ledbetter
authors.affiliation: e Duke University , Center for Applied Genomics and Precision Medicine , Durham , NC , USA.
authors.forename: Jeanette J
authors.initials: JJ
authors.lastname: McCarthy
authors.affiliation: f GenoLogics , Redwood City , CA , USA.
authors.forename: Michael
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authors.lastname: Ball
authors.affiliation: g University of Minnesota , Genomics Center ,, Minneapolis , MN , USA.
authors.forename: Kenneth B
authors.initials: KB
authors.lastname: Beckman
authors.affiliation: h Baylor College of Medicine , Children's Nutrition Research Center , Houston , TX , USA.
authors.forename: John W
authors.initials: JW
authors.lastname: Belmont
authors.affiliation: i University of California, San Diego , School of Medicine , La Jolla , CA , USA.
authors.forename: Cinnamon S
authors.initials: CS
authors.lastname: Bloss
authors.affiliation: a Coriell Institute for Medical Research , Camden , NJ , USA.
authors.forename: Michael F
authors.initials: MF
authors.lastname: Christman
authors.affiliation: j Medullan Inc ., Cambridge , MA , USA.
authors.forename: Andy
authors.initials: A
authors.lastname: Cosgrove
authors.affiliation: k Mission Massimo Foundation , Elsternwick , VIC , Australia .|l Mission Massimo Foundation Inc ., Westlake Village , CA , USA.
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Damiani
authors.affiliation: m PMed Management, LLC , Phoenix , AZ USA.
authors.forename: Timothy
authors.initials: T
authors.lastname: Danis
authors.affiliation: n University of Verona , 37134 Verona , Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Delledonne
authors.affiliation: o The American Society of Human Genetics , Bethesda , MD , USA.|p Department of Pediatrics , University of Colorado School of Medicine , Aurora , CO , USA.
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authors.affiliation: q Icahn School of Medicine at Mount Sinai , New York , NY , USA.
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authors.forename: W Andrew
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authors.affiliation: r University of California, San Diego , Departments of Neurosciences and Pediatrics and Rady Children's Hospital , San Diego , CA , USA.
authors.forename: Jennifer R
authors.initials: JR
authors.lastname: Friedman
authors.affiliation: s Maxwell Clinic , Clarksville , TN , USA.
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authors.initials: DH
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authors.affiliation: t University of Minnesota , Department of Genetics, Cell Biology and Development , Minneapolis , MN , USA.
authors.forename: Tom S
authors.initials: TS
authors.lastname: Hays
authors.affiliation: j Medullan Inc ., Cambridge , MA , USA.
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authors.affiliation: u Google Inc ., Mountain View , CA , USA.
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authors.lastname: Kaminsky
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authors.forename: Nikki
authors.initials: N
authors.lastname: Ledbetter
authors.affiliation: w Life Letters , Sydney , NSW , Australia.
authors.forename: Warren H
authors.initials: WH
authors.lastname: Lee
authors.affiliation: q Icahn School of Medicine at Mount Sinai , New York , NY , USA.
authors.forename: Elissa
authors.initials: E
authors.lastname: Levin
authors.affiliation: x MD Revolution , San Diego , CA , USA.
authors.forename: Ondrej
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authors.lastname: Libiger
authors.affiliation: q Icahn School of Medicine at Mount Sinai , New York , NY , USA.
authors.forename: Michael
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authors.lastname: Linderman
authors.affiliation: m PMed Management, LLC , Phoenix , AZ USA.
authors.forename: Richard L
authors.initials: RL
authors.lastname: Love
authors.affiliation: y Stanford Center for Biomedical Ethics , Stanford School of Medicine , Stanford , CA , USA.
authors.forename: David C
authors.initials: DC
authors.lastname: Magnus
authors.affiliation: x MD Revolution , San Diego , CA , USA.
authors.forename: AnneMarie
authors.initials: A
authors.lastname: Martland
authors.affiliation: z Genome magazine , Big Science Media , Plano , TX , USA.
authors.forename: Susan L
authors.initials: SL
authors.lastname: McClure
authors.affiliation: aa Coriell Life Sciences , Camden , NJ , USA.
authors.forename: Scott E
authors.initials: SE
authors.lastname: Megill
authors.affiliation: ab Healix Health, Ltd , West Vancouver , BC , Canada.
authors.forename: Helen
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authors.lastname: Messier
authors.affiliation: ac Invitae Corp ., San Francisco , CA , USA.
authors.forename: Robert L
authors.initials: RL
authors.lastname: Nussbaum
authors.affiliation: ad Stanford University , Palo Alto , CA , USA.
authors.forename: Latha
authors.initials: L
authors.lastname: Palaniappan
authors.affiliation: ae Scripps Clinic Medical Group , La Jolla , CA , USA.
authors.forename: Bradley A
authors.initials: BA
authors.lastname: Patay
authors.affiliation: af Genome British Columbia , Vancouver , BC , Canada.
authors.forename: Bradley W
authors.initials: BW
authors.lastname: Popovich
authors.affiliation: ag Dana-Farber Cancer Institute , Boston , MA , USA.
authors.forename: John
authors.initials: J
authors.lastname: Quackenbush
authors.affiliation: ah Savant Wellness , San Francisco , CA , USA.
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Savant
authors.affiliation: ai Anthem Blue Cross , Woodland Hills , CA , USA.
authors.forename: Michael M
authors.initials: MM
authors.lastname: Su
authors.affiliation: aj Genetic Alliance , Washington , DC , USA.
authors.forename: Sharon F
authors.initials: SF
authors.lastname: Terry
authors.affiliation: ak Novena Specialist Center , Singapore , Republic of Singapore.
authors.forename: Steven
authors.initials: S
authors.lastname: Tucker
authors.affiliation: al Cancer Commons , Palo Alto , CA , USA.
authors.forename: William T
authors.initials: WT
authors.lastname: Wong
authors.affiliation: 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.
authors.forename: Robert C
authors.initials: RC
authors.lastname: Green
mesh_terms: D003695:Delivery of Health Care / Q000379:methods / Q000458:organization & administration*; D005820:Genetic Testing; D015894:Genome, Human; D023281:Genomics / Q000295:instrumentation / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D057285:Precision Medicine / Q000639:trends*; D011933:Reagent Kits, Diagnostic
chemical_list: D011933:Reagent Kits, Diagnostic
keywords: Personalized medicine; clinical genomics; exome; genetic testing; genome; genomic data; practice standards; precision medicine; sequencing
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