Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience-Reference-Cited by-同舟云学术

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

Published:2018-08-21 Issue:6 Volume:6 Page:898-909
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Porter Kathryn M.¹^ORCID,Kauffman Tia L.²^ORCID,Koenig Barbara A.³,Lewis Katie L.⁴,Rehm Heidi L.⁵⁶⁷⁸,Richards Carolyn Sue⁹,Strande Natasha T.¹⁰,Tabor Holly K.¹¹,Wolf Susan M.¹²,Yang Yaping¹³,Amendola Laura M.¹⁴,Azzariti Danielle R.⁸,Berg Jonathan S.¹⁰,Bergstrom Katie¹⁵,Biesecker Leslie G.⁴,Biswas Sawona¹⁶,Bowling Kevin M.¹⁷,Chung Wendy K.¹⁸¹⁹,Clayton Ellen W.²⁰,Conlin Laura K.²¹,Cooper Gregory M.¹⁷,Dulik Matthew C.²¹,Garraway Levi A.²²,Ghazani Arezou A.⁵⁶²³²⁴,Green Robert C.⁵⁶⁷²⁵^ORCID,Hiatt Susan M.¹⁷,Jamal Seema M.²⁶,Jarvik Gail P.¹⁴²⁷,Goddard Katrina A. B.²,Wilfond Benjamin S.¹²⁸,

Affiliation:

1. Treuman Katz Center for Pediatric Bioethics; Seattle Children's Research Institute; Seattle Washington

2. Center for Health Research; Kaiser Permanente Northwest; Portland Oregon

3. Institute for Health and Aging; University of California; San Francisco California

4. Medical Genomics and Metabolic Genetics Branch of the National Human Genome Research Institute; Bethesda Maryland

5. Broad Institute of MIT and Harvard; Cambridge Massachusetts

6. Harvard Medical School; Boston Massachusetts

7. Partners Personalized Medicine; Boston Massachusetts

8. Laboratory for Molecular Medicine; Partners Healthcare Personalized Medicine; Cambridge Massachusetts

9. Knight Diagnostic Laboratories and Department of Molecular and Medical Genetics; Oregon Health and Science University; Portland Oregon

10. Department of Genetics; The University of North Carolina at Chapel Hill; Chapel Hill North Carolina

11. Stanford Center for Biomedical Ethics; Palo Alto California

12. University of Minnesota Law School; Medical School and Consortium on Law and Values in Health, Environment & the Life Sciences; Minneapolis Minnesota

13. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

14. Department of Medicine; Division of Medical Genetics; University of Washington; Seattle Washington

15. Texas Children's Cancer Center and the Department of Pediatrics; Texas Children's Hospital; Baylor College of Medicine; Houston Texas

16. Department of Pediatrics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

17. Hudson Alpha Institute for Biotechnology; Huntsville Alabama

18. Department of Pediatrics; Columbia University; New York New York

19. Department of Medicine; Columbia University Medical Center; New York New York

20. Center for Biomedical Ethics and Society; Vanderbilt University Medical Center; Nashville Tennessee

21. Division of Genomic Diagnostics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

22. Eli Lilly and Company; Indianapolis Indiana

23. Department of Medical Oncology and Center for Cancer Precision Medicine; Dana-Farber Cancer Institute; Boston Massachusetts

24. Department of Medicine; Brigham and Women's Hospital; Boston Massachusetts

25. Division of Genetics; Department of Medicine; Brigham and Women's Hospital; Boston Massachusetts

26. Department of Molecular Genetics; University of Toronto; Toronto Ontario

27. Department of Genome Sciences; University of Washington; Seattle Washington

28. Department of Pediatrics; University of Washington School of Medicine; Seattle Washington

Funder

National Human Genome Research Institute

Intramural Research Program of the National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.453/fullpdf

Reference44 articles.

1. ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent;ACOG Committee on Genetics;Obstetrics and Gynecology,2004

2. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium;Amendola;American Journal of Human Genetics,2016

3. ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis;American College of Obstetricians and Gynecologists Committee on Genetics;Obstetrics and Gynecology,2011

4. Uptake of cystic fibrosis testing in primary care: Supply push or demand pull?;Bekker;BMJ,1993

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