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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Next generation sequencing for newborn screening: are we there yet?
TL;DR: Screening programs for asymptomatic newborns (newborn screening - NBS) have increasingly been implemented in many westernized countries since the end of the 20th century and have led to the saving of lives and improving quality of life as well as posing less financial burden on the health care system.
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Use of an Electronic Medical Record to Create the Marshfield Clinic Twin/Multiple Birth Cohort
TL;DR: The use of the Marshfield Clinic electronic medical record (EMR) to identify a cohort of 19,226 patients enriched for twins or multiples and indicates that both MD and fragile‐X syndrome are highly correlated among affected twins in the MCTC suggest that EMR systems may not only be an effective resource for predicting families of twins, but can also be rapidly applied to epidemiologic research.
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Whether, when, how, and how much? General public's and cancer patients' views about the disclosure of genomic secondary findings.
Jude Emmanuel Cléophat,Michel Dorval,Zaki El Haffaf,Jocelyne Chiquette,Stephanie Collins,Benjamin Malo,Vincent Fradet,Yann Joly,Hermann Nabi +8 more
TL;DR: The authors explored cancer patients' and the general public's perspectives about disclosing genomic secondary findings (SFs) and the modalities of such disclosure and found that cancer patients and members of the public were open to receiving genomic SFs considering their potential clinical and personal utility.
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Biobanking strategies and regulative approaches in the eU: recent perspectives
Katharina Beier,Christian Lenk +1 more
TL;DR: In this article, the authors discuss selected ethical and legal issues in research biobanking in the European context by looking at population biobanks, new participation models, the cross-border sharing of samples, the participation of minors, the handling of incidental health findings, whole genome sequencing, and commercialization.
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Measuring clinical utility in the context of genetic testing: a scoping review.
Shantel E. Walcott,Fiona A. Miller,Kourtney Dunsmore,Tanya Lazor,Brian M. Feldman,Robin Z. Hayeems +5 more
TL;DR: Results suggest that the FT Model is suitable for the genetics context however domain refinements may be warranted, and more diverse clinical settings, robust study designs, and novel strategies for measuring clinical utility are needed.
References
More filters
Journal ArticleDOI
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.
Journal ArticleDOI
Intratumor heterogeneity and branched evolution revealed by multiregion sequencing.
Marco Gerlinger,Andrew Rowan,Stuart Horswell,James Larkin,David Endesfelder,Eva Grönroos,Pierre Martinez,Nicholas Matthews,Aengus Stewart,Patrick S. Tarpey,Ignacio Varela,Benjamin Phillimore,Sharmin Begum,Neil Q. McDonald,Adam Butler,David T. Jones,Keiran Raine,Calli Latimer,Claudio R. Santos,Mahrokh Nohadani,Aron Charles Eklund,Bradley Spencer-Dene,Graham Clark,Lisa Pickering,Gordon Stamp,Martin Gore,Zoltan Szallasi,Zoltan Szallasi,Julian Downward,P. Andrew Futreal,Charles Swanton +30 more
TL;DR: Intratumor heterogeneity can lead to underestimation of the tumor genomics landscape portrayed from single tumor-biopsy samples and may present major challenges to personalized-medicine and biomarker development.
Journal ArticleDOI
Table S2: Trans-factors and trinucleotide repeat instability Trans-factor
Journal ArticleDOI
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.
Journal ArticleDOI
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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