The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe
(2012) In European Journal of Human Genetics 20(9). p.6-911- 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... (More)
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.
(Less)
- author
- publishing date
- 2012-09
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Biomedical Research/ethics, Delivery of Health Care/ethics, Genetic Testing/ethics, High-Throughput Nucleotide Sequencing, Humans, Laboratories/ethics, Practice Guidelines as Topic
- in
- European Journal of Human Genetics
- volume
- 20
- issue
- 9
- pages
- 6 - 911
- publisher
- Nature Publishing Group
- external identifiers
-
- pmid:22453292
- scopus:84865275654
- ISSN
- 1476-5438
- DOI
- 10.1038/ejhg.2012.56
- language
- English
- LU publication?
- no
- id
- f16187bf-fda8-4666-bb6f-3063058bcf4e
- date added to LUP
- 2021-11-02 08:43:48
- date last changed
- 2024-01-05 19:41:51
@article{f16187bf-fda8-4666-bb6f-3063058bcf4e,
abstract = {{<p>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.</p>}},
author = {{Hastings, Ros and de Wert, Guido and Fowler, Brian and Krawczak, Michael and Vermeulen, Eric and Bakker, Egbert and Borry, Pascal and Dondorp, Wybo and Nijsingh, Niels and Barton, David and Schmidtke, Jörg and van El, Carla G and Vermeesch, Joris and Stol, Yrrah and Carmen Howard, Heidi and Cornel, Martina C}},
issn = {{1476-5438}},
keywords = {{Biomedical Research/ethics; Delivery of Health Care/ethics; Genetic Testing/ethics; High-Throughput Nucleotide Sequencing; Humans; Laboratories/ethics; Practice Guidelines as Topic}},
language = {{eng}},
number = {{9}},
pages = {{6--911}},
publisher = {{Nature Publishing Group}},
series = {{European Journal of Human Genetics}},
title = {{The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe}},
url = {{http://dx.doi.org/10.1038/ejhg.2012.56}},
doi = {{10.1038/ejhg.2012.56}},
volume = {{20}},
year = {{2012}},
}