Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.
Carla G. van El,Martina C. Cornel,Pascal Borry,Ros Hastings,Florence Fellmann,Shirley Hodgson,Heidi Howard,Heidi Howard,Anne Cambon-Thomsen,Anne Cambon-Thomsen,Bartha Maria Knoppers,Hanne Meijers-Heijboer,Hans Scheffer,Lisbeth Tranebjærg,Lisbeth Tranebjærg,Lisbeth Tranebjærg,Wybo Dondorp,Guido de Wert +17 more
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TLDR
Focusing on the clinical diagnostics setting, this paper is intended to contribute to the discussion and the development of guidelines in this fast-moving field, and provide recommendations for health-care professionals.Abstract:
In recent years, the cost of generating genome information has shown a rapid decline.1, 2 High-throughput genomic technologies make it possible to sequence the whole exome or genome of a person at a price that is affordable for some health-care systems. More services based on these technologies are now becoming available for patients, raising the issue of how to ensure that these are provided appropriately. In order to determine both the clinical utility of genetic testing and assure a high quality of the analysis, the interpretation and communication of the results must be discussed so that patients can receive appropriate advice and genetic testing. The Public and Professional Policy Committee (PPPC) and the Quality Committee of the European Society of Human Genetics (ESHG) addressed these challenges at a joint workshop in Gothenburg, Sweden, in 2010.3 PPPC also organised workshops in Amsterdam, the Netherlands (January 2011 in collaboration with the EU-funded project TECHGENE, January 2012). A report for the Health Council of the Netherlands served as a background document for the PPPC's reflections.4 Focusing on the clinical diagnostics setting, this paper is intended to contribute to the discussion and the development of guidelines in this fast-moving field, and provide recommendations for health-care professionals. The paper and recommendations were posted on the ESHG website from 20 June to 1 August 2012 for comment by the membership. The final version was approved by the ESHG Board in December 2012.read more
Citations
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Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol
Sophie E. Bouffler,Ling-hui Lee,Fiona Lynch,Melissa Martyn,Elly Lynch,Ivan Macciocca,Lisette Curnow,Giulia McCorkell,Sebastian Lunke,Belinda Chong,Justine E. Marum,Martin B. Delatycki,Lilian Downie,Ilias Goranitis,Danya F. Vears,Stephanie Best,Marc Clausen,Yvonne Bombard,Zornitza Stark,Clara Gaff +19 more
TL;DR: In this paper , the authors evaluated the impact of additional findings (AF) on families undergoing genomic testing, focusing on parental preferences, uptake, decision support use and understanding of AF.
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Next Generation Sequencing in Dysmorphology
Robert Smigiel,Urszula Demkow +1 more
TL;DR: It is proposed that unexplained dysmorphic patients should be subjected to NGS testing once a genomic imbalance has been ruled out by aCGH, and the power of NGS together with interactive web-based databases allows us to recognize novel genotype–phenotype correlations.
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Strategies to Guide the Return of Genomic Research Findings: An Australian Perspective
Lisa Eckstein,Margaret Otlowski +1 more
TL;DR: A pyramid of decision-making support is proposed: decision- making guidelines, technical and interpretative assistance, and ethical assistance for intractable “tough” cases that would facilitate a growing evidence base for return of finding decisions and improve the quality of participant outcomes.
INDIVIDUAL GENETIC RESEARCH RESULTS : Uncertainties, Conceptions, and Preferences
TL;DR: In this article, the authors contribute to the ethical discussion on how to handle incidental findings in biomedical research using sequencing technologies from a theoretical and an empirical perspective from both a legal and an ethical perspective.
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Informed Consent Template and Guidelines on the Ethical Practice in Human Genetics and Human Genomic Research; Initiatives of the Universiti Sains Malaysia.
TL;DR: The Universiti Sains Malaysia recently created in-house guidelines and an informed consent template for genetic and genomic research andRecommendations pertaining to local social studies and regulatory arrangements are proposed.
References
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Exome sequencing identifies the cause of a Mendelian disorder
Sarah B H Ng,Kati J. Buckingham,Choli Lee,Abigail W. Bigham,Holly K. Tabor,Holly K. Tabor,Karin M. Dent,Chad D. Huff,Paul Shannon,Ethylin Wang Jabs,Ethylin Wang Jabs,Deborah A. Nickerson,Jay Shendure,Michael J. Bamshad,Michael J. Bamshad +14 more
TL;DR: Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits.
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The complete genome of an individual by massively parallel DNA sequencing
David A. Wheeler,Maithreyan Srinivasan,Michael Egholm,Yufeng Shen,Lei Chen,Amy L. McGuire,Wen He,Yi-Ju Chen,Vinod Makhijani,G. Thomas Roth,Xavier V. Gomes,Karrie R. Tartaro,Karrie R. Tartaro,Faheem Niazi,Cynthia L. Turcotte,Gerard P. Irzyk,James R. Lupski,James R. Lupski,Craig Chinault,Xingzhi Song,Yue Liu,Ye Yuan,Lynne V. Nazareth,Xiang Qin,Donna M. Muzny,Marcel Margulies,George M. Weinstock,George M. Weinstock,Richard A. Gibbs,Richard A. Gibbs,Jonathan M. Rothberg,Jonathan M. Rothberg +31 more
TL;DR: This sequence was completed in two months at approximately one-hundredth of the cost of traditional capillary electrophoresis methods and demonstrated the acquisition of novel human sequence, including novel genes not previously identified by traditional genomic sequencing, which is the first genome sequenced by next-generation technologies.
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