Literature DB >> 22453292

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.

Ros Hastings1, Guido de Wert, Brian Fowler, Michael Krawczak, Eric Vermeulen, Egbert Bakker, Pascal Borry, Wybo Dondorp, Niels Nijsingh, David Barton, Jörg Schmidtke, Carla G van El, Joris Vermeesch, Yrrah Stol, Heidi Carmen Howard, Martina C Cornel.   

Abstract

The arrival of new genetic technologies that allow efficient examination of the whole human genome (microarray, next-generation sequencing) will impact upon both laboratories (cytogenetic and molecular genetics in the first instance) and clinical/medical genetic services. The interpretation of analytical results in terms of their clinical relevance and the predicted health status poses a challenge to both laboratory and clinical geneticists, due to the wealth and complexity of the information obtained. There is a need to discuss how to best restructure the genetic services logistically and to determine the clinical utility of genetic testing so that patients can receive appropriate advice and genetic testing. To weigh up the questions and challenges of the new genetic technologies, the European Society of Human Genetics (ESHG) held a series of workshops on 10 June 2010 in Gothenburg. This was part of an ESHG satellite symposium on the 'Changing landscape of genetic testing', co-organized by the ESHG Genetic Services Quality and Public and Professional Policy Committees. The audience consisted of a mix of geneticists, ethicists, social scientists and lawyers. In this paper, we summarize the discussions during the workshops and present some of the identified ways forward to improve and adapt the genetic services so that patients receive accurate and relevant information. This paper covers ethics, clinical utility, primary care, genetic services and the blurring boundaries between healthcare and research.

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Year:  2012        PMID: 22453292      PMCID: PMC3421130          DOI: 10.1038/ejhg.2012.56

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  11 in total

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2.  Ethical review of research into rare genetic disorders.

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Review 3.  The evaluation of genetic tests.

Authors:  Ron L Zimmern; Mark Kroese
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4.  Common genetic variation and human traits.

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Journal:  Soc Sci Med       Date:  2009-04-05       Impact factor: 4.634

Review 6.  Tilting at quixotic trait loci (QTL): an evolutionary perspective on genetic causation.

Authors:  Kenneth M Weiss
Journal:  Genetics       Date:  2008-08       Impact factor: 4.562

7.  Social networkers' attitudes toward direct-to-consumer personal genome testing.

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Review 9.  Genetic screening for low-penetrance variants in protein-coding genes.

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  15 in total

1.  Quality assurance practices in Europe: a survey of molecular genetic testing laboratories.

Authors:  Sarah Berwouts; Katrina Fanning; Michael A Morris; David E Barton; Elisabeth Dequeker
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

2.  Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

Authors:  Carla G van El; Martina C Cornel; Pascal Borry; Ros J Hastings; Florence Fellmann; Shirley V Hodgson; Heidi C Howard; Anne Cambon-Thomsen; Bartha M Knoppers; Hanne Meijers-Heijboer; Hans Scheffer; Lisbeth Tranebjaerg; Wybo Dondorp; Guido M W R de Wert
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3.  Scanning the human genome and the horizon: the potential and pitfalls of pharmacogenetics and stratified medicine.

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4.  A theory-informed systematic review of clinicians' genetic testing practices.

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Journal:  Eur J Hum Genet       Date:  2018-06-11       Impact factor: 4.246

5.  Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.

Authors:  Carla G van El; Martina C Cornel; Pascal Borry; Ros J Hastings; Florence Fellmann; Shirley V Hodgson; Heidi C Howard; Anne Cambon-Thomsen; Bartha M Knoppers; Hanne Meijers-Heijboer; Hans Scheffer; Lisbeth Tranebjaerg; Wybo Dondorp; Guido M W R de Wert
Journal:  Eur J Hum Genet       Date:  2013-06       Impact factor: 4.246

6.  Genetic counselors' views and experiences with the clinical integration of genome sequencing.

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Journal:  J Genet Couns       Date:  2014-03-28       Impact factor: 2.537

7.  Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process.

Authors:  Carmen Ayuso; José M Millán; Marta Mancheño; Rafael Dal-Ré
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

8.  Genetics specialists' perspectives on disclosure of genomic incidental findings in the clinical setting.

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Journal:  Patient Educ Couns       Date:  2012-10-12

Review 9.  Current state of pediatric sarcoma biology and opportunities for future discovery: A report from the sarcoma translational research workshop.

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Journal:  Cancer Genet       Date:  2016-04-05

Review 10.  Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.

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Journal:  Genet Med       Date:  2014-12-11       Impact factor: 8.822

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