title: The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.
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.
authors.affiliation: CEQA and UK NEQAS for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK. ros.hastings@ouh.nhs.uk
authors.forename: Ros
authors.initials: R
authors.lastname: Hastings
authors.forename: Guido
authors.initials: G
authors.lastname: de Wert
authors.forename: Brian
authors.initials: B
authors.lastname: Fowler
authors.forename: Michael
authors.initials: M
authors.lastname: Krawczak
authors.forename: Eric
authors.initials: E
authors.lastname: Vermeulen
authors.forename: Egbert
authors.initials: E
authors.lastname: Bakker
authors.forename: Pascal
authors.initials: P
authors.lastname: Borry
authors.forename: Wybo
authors.initials: W
authors.lastname: Dondorp
authors.forename: Niels
authors.initials: N
authors.lastname: Nijsingh
authors.forename: David
authors.initials: D
authors.lastname: Barton
authors.forename: Jörg
authors.initials: J
authors.lastname: Schmidtke
authors.forename: Carla G
authors.initials: CG
authors.lastname: van El
authors.forename: Joris
authors.initials: J
authors.lastname: Vermeesch
authors.forename: Yrrah
authors.initials: Y
authors.lastname: Stol
authors.forename: Heidi
authors.initials: H
authors.lastname: Carmen Howard
authors.forename: Martina C
authors.initials: MC
authors.lastname: Cornel
mesh_terms: D035843:Biomedical Research / Q000941:ethics / Q000331:legislation & jurisprudence / Q000379:methods / Q000639:trends*; D003695:Delivery of Health Care / Q000941:ethics; D005820:Genetic Testing / Q000941:ethics / Q000331:legislation & jurisprudence / Q000379:methods / Q000639:trends*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007753:Laboratories / Q000941:ethics; D017410:Practice Guidelines as Topic