Managing incidental findings and research results in genomic research involving biobanks and archived data sets.
Susan M. Wolf,Brittney N. Crock,Brian G Van Ness,Frances P Lawrenz,Jeffrey P. Kahn,Laura M. Beskow,Mildred K. Cho,Michael F. Christman,Robert C. Green,Ralph F. Hall,Judy Illes,Moira A. Keane,Bartha Maria Knoppers,Barbara A. Koenig,Isaac S. Kohane,Bonnie S. LeRoy,Karen J. Maschke,William McGeveran,Pilar N. Ossorio,Lisa S. Parker,Gloria M. Petersen,Henry S. Richardson,Joan Scott,Sharon F. Terry,Benjamin S. Wilfond,Wendy A. Wolf +25 more
TLDR
It is suggested that findings that are analytically valid, reveal an established and substantial risk of a serious health condition, and are clinically actionable should generally be offered to consenting contributors.About:
This article is published in Genetics in Medicine.The article was published on 2012-04-01 and is currently open access. It has received 423 citations till now. The article focuses on the topics: Return of results & Biobank.read more
Citations
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Journal ArticleDOI
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C. Green,Robert C. Green,Jonathan S. Berg,Wayne W. Grody,Sarah S. Kalia,Bruce R. Korf,Christa Lese Martin,Amy L. McGuire,Robert L. Nussbaum,Julianne M. O’Daniel,Kelly E. Ormond,Heidi L. Rehm,Heidi L. Rehm,Michael S. Watson,Marc S. Williams,Leslie G. Biesecker +15 more
TL;DR: It is recommended that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here and encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.
Journal ArticleDOI
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
Caroline F. Wright,Tomas W Fitzgerald,Wendy D Jones,Stephen Clayton,Jeremy F. McRae,Margriet van Kogelenberg,Daniel A. King,Kirsty Ambridge,Daniel M Barrett,Tanya Bayzetinova,A. Paul Bevan,Eugene Bragin,Eleni A. Chatzimichali,Susan M. Gribble,Philip Jones,Netravathi Krishnappa,Laura E Mason,Ray Miller,Katherine I. Morley,Katherine I. Morley,Katherine I. Morley,Vijaya Parthiban,Elena Prigmore,Diana Rajan,Alejandro Sifrim,G. Jawahar Swaminathan,Adrian Tivey,Anna Middleton,Michael Parker,Nigel P. Carter,Jeffrey C. Barrett,Matthew E. Hurles,David R. FitzPatrick,Helen V. Firth,Helen V. Firth +34 more
TL;DR: In families with developmentally normal parents, whole exome sequencing of the child and both parents resulted in a 10-fold reduction in the number of potential causal variants that needed clinical evaluation compared to sequencing only the child.
Journal ArticleDOI
Paediatric genomics: diagnosing rare disease in children.
TL;DR: For affected families, a better understanding of the genetic basis of rare disease translates to more accurate prognosis, management, surveillance and genetic advice; stimulates research into new therapies; and enables provision of better support.
Journal ArticleDOI
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
Gail P. Jarvik,Laura M. Amendola,Jonathan S. Berg,Ellen Wright Clayton,Wendy K. Chung,Barbara J. Evans,James P. Evans,Stephanie M. Fullerton,Carlos J. Gallego,Nanibaa’ A. Garrison,Stacy W. Gray,Ingrid A. Holm,Iftikhar J. Kullo,Lisa Soleymani Lehmann,Catherine A. McCarty,Cynthia A. Prows,Heidi L. Rehm,Richard R. Sharp,Joseph Salama,Saskia C. Sanderson,Sara L. Van Driest,Marc S. Williams,Susan M. Wolf,Wendy A. Wolf,Wylie Burke +24 more
TL;DR: Research investigators should be prepared to return research results and incidental findings discovered in the course of their research and meeting an actionability threshold, but they have no ethical obligation to actively search for such results.
Journal ArticleDOI
Genetic studies of quantitative MCI and AD phenotypes in ADNI: Progress, opportunities, and plans
Andrew J. Saykin,Li Shen,Xiaohui Yao,Xiaohui Yao,Sungeun Kim,Kwangsik Nho,Shannon L. Risacher,Vijay K. Ramanan,Tatiana Foroud,Kelley Faber,Nadeem Sarwar,Leanne Munsie,Xiaolan Hu,Holly Soares,Steven G. Potkin,Paul M. Thompson,John S. K. Kauwe,Rima Kaddurah-Daouk,Robert C. Green,Arthur W. Toga,Michael W. Weiner +20 more
TL;DR: An update on sample collection, scientific progress and opportunities, conceptual issues, and future plans from the ADNI is provided.
References
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Egg science and technology
TL;DR: This book discusses the egg industry, the Microbiology of Eggs, the Chemistry of Eggs and Egg Products, and the Nutritive Value of the Egg.
Journal ArticleDOI
Managing incidental findings in human subjects research: Analysis and recommendations
Susan M. Wolf,Frances P Lawrenz,Charles A. Nelson,Jeffrey P. Kahn,Mildred K. Cho,Ellen Wright Clayton,Joel G. Fletcher,Michael K. Georgieff,Dale E. Hammerschmidt,Kathy Hudson,Judy Illes,Vivek Kapur,Moira A. Keane,Barbara A. Koenig,Bonnie S. LeRoy,Elizabeth G. McFarland,Jordan Paradise,Lisa S. Parker,Sharon F. Terry,Brian G Van Ness,Benjamin S. Wilfond +20 more
TL;DR: Recommendations of a two-year project group funded by NIH to study how to manageIFs in genetic and genomic research, as well as imaging research are reported, which conclude that researchers have an obligation to address the possibility of discovering IFs in their protocol and communications with the IRB and research participants.
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The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies.
Catherine A. McCarty,Rex L. Chisholm,Christopher G. Chute,Iftikhar J. Kullo,Gail P. Jarvik,Eric B. Larson,Rongling Li,Daniel R. Masys,Marylyn D. Ritchie,Dan M. Roden,Jeffery P. Struewing,Wendy A. Wolf +11 more
TL;DR: By combining advanced clinical informatics, genome science, and community consultation, eMERGE represents a first step in the development of data-driven approaches to incorporate genomic information into routine healthcare delivery.
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Protection of human subjects.
TL;DR: Page 1 of 8 Office/Contact: Office of Research Assurance and Sponsored Programs Source: Federal Policy for the Protection of human Subjects (also referred to as the Common Rule) – codified at 45 CFR 46, Protection of Human Subjects, Subparts A-D.
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Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
TL;DR: Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time.
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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
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Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
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