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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“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project
Elizabeth Ormondroyd,Elizabeth Ormondroyd,Michael P Mackley,Edward Blair,Judith Craft,Julian C. Knight,Julian C. Knight,Jenny C. Taylor,Jenny C. Taylor,John Taylor,Hugh Watkins,Hugh Watkins,Hugh Watkins +12 more
TL;DR: UK experts believe that evidence to inform policy toward secondary findings is lacking, arguing for caution; at present, mainstreaming of genomics may be premature.
Journal ArticleDOI
Points to consider for laboratories reporting results from diagnostic genomic sequencing
Danya F. Vears,Danya F. Vears,Karine Sénécal,Angus John Clarke,Leigh Jackson,Anne-Marie Laberge,Luca Lovrečić,Amélie Piton,K.L.I. van Gassen,Helger G. Yntema,Bartha Maria Knoppers,Pascal Borry,Pascal Borry +12 more
TL;DR: An interdisciplinary working group considered the current guidelines, their own experiences, and data from a recent qualitative study to develop a set of points to consider for laboratories reporting results from diagnostic NGS.
Journal ArticleDOI
Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges.
Catriona Hippman,Corey Nislow +1 more
TL;DR: Multidisciplinary teams will need to combine their expertise to deliver optimal pharmacogenomically-informed care, as rates of genomic literacy remain low, resulting in a widening gap in knowledge translation to the patient.
Journal ArticleDOI
ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues
Wybo Dondorp,G. de Wert,Guido Pennings,Françoise Shenfield,Paul Devroey,Basil C. Tarlatzis,Pedro N. Barri,Klaus Diedrich,Ursula Eichenlaub-Ritter,Frank Tüttelmann,Veerle Provoost +10 more
TL;DR: The ethical issues involved in the debate about the scope of genetic screening of gamete donors are explored, with calls for expanded donor screening arise against the background of both occasional findings of serious but rare genetic conditions in donors or donor offspring.
Journal ArticleDOI
Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics
Tessel Rigter,Lidewij Henneman,Ulf Kristoffersson,Alison Hall,Helger G. Yntema,Pascal Borry,Holger Tönnies,Quinten Waisfisz,Mariet W. Elting,Wybo Dondorp,Martina C. Cornel +10 more
TL;DR: The ethical and practical dilemmas encountered when contemplating informed consent for NGS in diagnostics from a multidisciplinary point of view are discussed to provide a sound basis for developing guidelines for optimizing the informed consent procedure.
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
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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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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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