TY - JOUR
T1 - Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)
AU - Claustres, Mireille
AU - Kožich, Viktor
AU - Dequeker, Els
AU - Fowler, Brain
AU - Hehir-Kwa, Jayne Y.
AU - Miller, Konstantin
AU - Oosterwijk, Cor
AU - Peterlin, Borut
AU - Van Ravenswaaij-Arts, Conny
AU - Zimmermann, Uwe
AU - Zuffardi, Orsetta
AU - Hastings, Ros J.
AU - Barton, David E.
N1 - Funding Information:
1Molecular Genetics of Rare Disorders, University Hospital of Montpellier and INSERM U827, IURC (Institut Universitaire de Recherche Clinique), Montpellier, France; 2First Faculty of Medicine, Charles University in Prague, Institute of Inherited Metabolic Disorders, Prague, Czech Republic; 3Biomedical Quality Assurance Research Unit, Department of Human Genetics, University of Leuven, Leuven, Belgium; 4Department of Paediatrics, Universitäts-Kinderspital beider Basel (UKBB), Basel, Switzerland; 5Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; 6Hannover Medical School, Institute of Human Genetics, Hannover, Germany; 7VSOP— National Patient Alliance for Rare and Genetic Disorders, Soest, The Netherlands; 8Division of Obstetrics and Gynecology, Clinical Institute of Medical Genetics, University Medical Center, Ljubljana, Slovenia; 9Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands; 10Division 3 Health/ Forensics, Deutsche Akkreditierungsstelle GmbH (DAkkS), Office Frankfurt am Main, Germany; 11Department of Medical Genetics, University of Pavia, Pavia, Italy; 12CEQA/UK NEQAS for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK; 13National Centre for Medical Genetics, School of Medicine & Medical Sciences, University College Dublin, Our Lady’s Children’s Hospital, Dublin, Ireland *Correspondence: Dr RJ Hastings, CEQA/UK NEQAS for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 9DU, UK. E-mail: [email protected]
PY - 2014/2
Y1 - 2014/2
N2 - Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question. The need for harmonizing reporting practice of genetic tests has been recognised by the External Quality Assessment (EQA), providers and laboratories. The ESHG Genetic Services Quality Committee has produced reporting guidelines for the genetic disciplines (biochemical, cytogenetic and molecular genetic). These guidelines give assistance on report content, including the interpretation of results. Selected examples of genetic test reports for all three disciplines are provided in an annexe.
AB - Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question. The need for harmonizing reporting practice of genetic tests has been recognised by the External Quality Assessment (EQA), providers and laboratories. The ESHG Genetic Services Quality Committee has produced reporting guidelines for the genetic disciplines (biochemical, cytogenetic and molecular genetic). These guidelines give assistance on report content, including the interpretation of results. Selected examples of genetic test reports for all three disciplines are provided in an annexe.
UR - https://www.scopus.com/pages/publications/84892821784
U2 - 10.1038/ejhg.2013.125
DO - 10.1038/ejhg.2013.125
M3 - Article
C2 - 23942201
AN - SCOPUS:84892821784
SN - 1018-4813
VL - 22
SP - 160
EP - 170
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - 2
ER -