Toward clinical genomics in everyday medicine: perspectives and recommendations

Author:

Delaney Susan K.1,Hultner Michael L.2,Jacob Howard J.3,Ledbetter David H.4,McCarthy Jeanette J.5,Ball Michael6,Beckman Kenneth B.7,Belmont John W.8,Bloss Cinnamon S.9,Christman Michael F.1,Cosgrove Andy10,Damiani Stephen A.1112,Danis Timothy13,Delledonne Massimo14,Dougherty Michael J.1516,Dudley Joel T.17,Faucett W. Andrew4,Friedman Jennifer R.18,Haase David H.19,Hays Tom S.20,Heilsberg Stu10,Huber Jeff21,Kaminsky Leah22,Ledbetter Nikki4,Lee Warren H.23,Levin Elissa17,Libiger Ondrej24,Linderman Michael17,Love Richard L.13,Magnus David C.25,Martland AnneMarie24,McClure Susan L.26,Megill Scott E.27,Messier Helen28,Nussbaum Robert L.29,Palaniappan Latha30,Patay Bradley A.31,Popovich Bradley W.32,Quackenbush John33,Savant Mark J.34,Su Michael M.35,Terry Sharon F.36,Tucker Steven37,Wong William T.38,Green Robert C.39

Affiliation:

1. Coriell Institute for Medical Research, Camden, NJ, USA

2. Lockheed Martin, Information Systems & Global Solutions, Rockville, MD, USA

3. HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA

4. Geisinger Health System, Danville, PA, USA

5. Duke University, Center for Applied Genomics and Precision Medicine, Durham, NC, USA

6. GenoLogics, Redwood City, CA, USA

7. University of Minnesota, Genomics Center,, Minneapolis, MN, USA

8. Baylor College of Medicine, Children’s Nutrition Research Center, Houston, TX, USA

9. University of California, San Diego, School of Medicine, La Jolla, CA, USA

10. Medullan Inc., Cambridge, MA, USA

11. Mission Massimo Foundation, Elsternwick, VIC, Australia.

12. Mission Massimo Foundation Inc., Westlake Village, CA, USA

13. PMed Management, LLC, Phoenix, AZ USA

14. University of Verona, 37134 Verona, Italy

15. The American Society of Human Genetics, Bethesda, MD, USA

16. Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA

17. Icahn School of Medicine at Mount Sinai, New York, NY, USA

18. University of California, San Diego, Departments of Neurosciences and Pediatrics and Rady Children’s Hospital, San Diego, CA, USA

19. Maxwell Clinic, Clarksville, TN, USA

20. University of Minnesota, Department of Genetics, Cell Biology and Development, Minneapolis, MN, USA

21. Google Inc., Mountain View, CA, USA

22. Elwood Family Clinic, Elwood, VIC, Australia

23. Life Letters, Sydney, NSW, Australia

24. MD Revolution, San Diego, CA, USA

25. Stanford Center for Biomedical Ethics, Stanford School of Medicine, Stanford, CA, USA

26. Genome magazine, Big Science Media, Plano, TX, USA

27. Coriell Life Sciences, Camden, NJ, USA

28. Healix Health, Ltd, West Vancouver, BC, Canada

29. Invitae Corp., San Francisco, CA, USA

30. Stanford University, Palo Alto, CA, USA

31. Scripps Clinic Medical Group, La Jolla, CA, USA

32. Genome British Columbia, Vancouver, BC, Canada

33. Dana-Farber Cancer Institute, Boston, MA, USA

34. Savant Wellness, San Francisco, CA, USA

35. Anthem Blue Cross, Woodland Hills, CA, USA

36. Genetic Alliance, Washington, DC, USA

37. Novena Specialist Center, Singapore, Republic of Singapore

38. Cancer Commons, Palo Alto, CA, USA

39. 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

Funder

Illumina, Inc

Publisher

Informa UK Limited

Subject

Genetics,Molecular Biology,Molecular Medicine,Pathology and Forensic Medicine

Reference74 articles.

1. What Is Genetic Testing? Genetics Home Reference. Bethesda (MD): NIH/U.S. National Library of Medicine 2016. [cited 2016 Jan 16]. Available from: http://ghr.nlm.nih.gov/handbook/testing/genetictesting

2. Resistance to Therapy in Acute Promyelocytic Leukemia

3. Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

4. The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

5. Exome sequencing in undiagnosed inherited and sporadic ataxias

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