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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Journal ArticleDOI
Prenatal diagnosis of chromosomal imbalances
Diana Wellesley,Anneke Lucassen +1 more
TL;DR: Prenatal array comparative genome hybridisation (aCGH) testing has by and large replaced routine karyotyping in many healthcare settings, but the particular challenges the prenatal setting generates are discussed.
Journal ArticleDOI
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.
Mullin H.C. Yu,Christopher C.Y. Mak,Jasmine L.F. Fung,Mianne Lee,Mandy H.Y. Tsang,Jeffrey Fong Ting Chau,Patrick Ho Yu Chung,Wanling Yang,Godfrey Chi-Fung Chan,Godfrey Chi-Fung Chan,Godfrey Chi-Fung Chan,So Lun Lee,So Lun Lee,Yu-Lung Lau,Yu-Lung Lau,Yu-Lung Lau,Paul K.H. Tam,Paul K.H. Tam,Clara S. Tang,Clara S. Tang,Kit San Yeung,Brian H.Y. Chung,Brian H.Y. Chung,Brian H.Y. Chung +23 more
TL;DR: Although 20 individuals harboured pathogenic or likely pathogenic variants in recessive conditions, none carried bi-allelic mutations in the same gene, in accordance with the estimation from the American College of Medical Genetics and Genomics that about 1% individuals harbour secondary findings.
Book ChapterDOI
Opportunistic Genomic Screening: Ethical Exploration
Guido de Wert,Wybo Dondorp +1 more
TL;DR: An ethical reflection on next-generation sequencing aims to stimulate a wider normative debate on OGS, aimed at identifying central ethical issues for further debate and analysis, thereby contributing to moral agenda-setting.
Journal ArticleDOI
A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.
Marlies Saelaert,Heidi Mertes,Tania Moerenhout,Tania Moerenhout,Caroline Van Cauwenbergh,Caroline Van Cauwenbergh,Bart P. Leroy,Ignaas Devisch,Elfride De Baere,Elfride De Baere +9 more
TL;DR: In this paper, a qualitative study was conducted and an interpretative phenomenological analysis was made of 14 interviews with patients with an inherited retinal disease, including three main components: result-specific qualities, i.e., the characteristics of an UF (inclusive of actionability, penetrance, severity and age of onset), the second component applies to a patient's lived illness experiences and to the way these contrast with reflections on presymptomatic UFs; the third component addresses a patient’s family embedding and its effect on concerns about disease prognosis and genetic information
References
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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.
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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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