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
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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
Kym M. Boycott,Taila Hartley,Shelin Adam,Francois P. Bernier,Karen Chong,Karen Chong,Bridget A. Fernandez,Jan M. Friedman,Michael T. Geraghty,Stacey Hume,Bartha Maria Knoppers,Anne-Marie Laberge,Jacek Majewski,Roberto Mendoza-Londono,M. Stephen Meyn,M. Stephen Meyn,Jacques L. Michaud,Tanya N. Nelson,Julie Richer,Bekim Sadikovic,David Skidmore,Tracy Stockley,Sherry Taylor,Clara D.M. van Karnebeek,Ma'n H. Zawati,Julie Lauzon,Christine M. Armour +26 more
TL;DR: Clinical genome-wide sequencing is an appropriate approach in the diagnostic assessment of a patient for whom there is suspicion of a significant monogenic disease that is associated with a high degree of genetic heterogeneity, or where specific genetic tests have failed to provide a diagnosis.
Journal ArticleDOI
Genetic advances in sarcomeric cardiomyopathies: state of the art
Carolyn Y. Ho,Philippe Charron,Pascale Richard,Francesca Girolami,Karin Y. van Spaendonck-Zwarts,Yigal M. Pinto +5 more
TL;DR: The current application of genetics in clinical management is reviewed, focusing on hypertrophic cardiomyopathy as a paradigm; state-of-the-art genetic testing technology is discussed; emerging knowledge of gene expression in sarcomeric cardiomeopathies is reviewed; and both the prospects, as well as the challenges, of bringing genetics to medicine are discussed.
Journal ArticleDOI
Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).
S Faisal Ahmed,John C. Achermann,Wiebke Arlt,Adam H. Balen,G. S. Conway,Zoe Edwards,Sue Elford,Ieuan A. Hughes,Louise Izatt,Nils Krone,Harriet L Miles,Stuart O'Toole,Les Perry,Caroline Sanders,Margaret Simmonds,Andrew Watt,Debbie S. Willis +16 more
TL;DR: It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD.
Journal ArticleDOI
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.
Anna Middleton,Katherine I. Morley,Katherine I. Morley,Eugene Bragin,Helen V. Firth,Matthew E. Hurles,Caroline F. Wright,Michael Parker +7 more
TL;DR: A disconnect between the views of those handling the findings of research and those participating in research is demonstrated, and Exploring, evaluating and ultimately addressing this disconnect should form a priority for researchers and clinicians alike.
Journal ArticleDOI
The challenges, advantages and future of phenome-wide association studies.
TL;DR: Although the PheWAS approach is in its infancy, this method has already demonstrated its capacity to rediscover important genetic associations related to immunological diseases/conditions and has the advantage of identifying genetic variants with pleiotropic properties.
References
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A Map of Human Genome Variation From Population-Scale Sequencing
Gonçalo R. Abecasis,David Altshuler,David Altshuler,Adam Auton,Lisa D Brooks,Richard Durbin,Richard A. Gibbs,Matthew E. Hurles,Gil McVean +8 more
TL;DR: The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype as mentioned in this paper, and the results of the pilot phase of the project, designed to develop and compare different strategies for genomewide sequencing with high-throughput platforms.
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Table S2: Trans-factors and trinucleotide repeat instability Trans-factor
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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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