TY - JOUR
T1 - The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe
AU - Hastings, Ros
AU - de Wert, Guido
AU - Fowler, Brian
AU - Krawczak, Michael
AU - Vermeulen, Eric
AU - Bakker, Egbert
AU - Borry, Pascal
AU - Dondorp, Wybo
AU - Nijsingh, Niels
AU - Barton, David
AU - Schmidtke, Joerg
AU - van El, Carla G.
AU - Vermeesch, Joris
AU - Stol, Yrrah
AU - Howard, Heidi Carmen
AU - Cornel, Martina C.
PY - 2012/9
Y1 - 2012/9
N2 - 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. European Journal of Human Genetics (2012) 20, 911-916; doi:10.1038/ejhg.2012.56; published online 28 March 2012
AB - 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. European Journal of Human Genetics (2012) 20, 911-916; doi:10.1038/ejhg.2012.56; published online 28 March 2012
U2 - 10.1038/ejhg.2012.56
DO - 10.1038/ejhg.2012.56
M3 - Article
C2 - 22453292
SN - 1018-4813
VL - 20
SP - 911
EP - 916
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 9
ER -