Expert Rev Mol Diagn. 2016;16(5):521-32. doi: 10.1586/14737159.2016.1146593. Epub 2016 Feb 24.

Toward clinical genomics in everyday medicine: perspectives and recommendations.

Delaney SK¹, Hultner ML², Jacob HJ³, Ledbetter DH⁴, McCarthy JJ⁵, Ball M⁶, Beckman KB⁷, Belmont JW⁸, Bloss CS⁹, Christman MF¹, Cosgrove A¹⁰, Damiani SA^11,¹², Danis T¹³, Delledonne M¹⁴, Dougherty MJ^15,¹⁶, Dudley JT¹⁷, Faucett WA⁴, Friedman JR¹⁸, Haase DH¹⁹, Hays TS²⁰, Heilsberg S¹⁰, Huber J²¹, Kaminsky L²², Ledbetter N⁴, Lee WH²³, Levin E¹⁷, Libiger O²⁴, Linderman M¹⁷, Love RL¹³, Magnus DC²⁵, Martland A²⁴, McClure SL²⁶, Megill SE²⁷, Messier H²⁸, Nussbaum RL²⁹, Palaniappan L³⁰, Patay BA³¹, Popovich BW³², Quackenbush J³³, Savant MJ³⁴, Su MM³⁵, Terry SF³⁶, Tucker S³⁷, Wong WT³⁸, Green RC³⁹.

Author information

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.

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.