Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).
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.
Molecular Genetics of Rare Disorders, University Hospital of Montpellier and INSERM U827, IURC (Institut Universitaire de Recherche Clinique), Montpellier, France.
Mireille
M
Claustres
First Faculty of Medicine, Charles University in Prague, Institute of Inherited Metabolic Disorders, Prague, Czech Republic.
Viktor
V
Kožich
Biomedical Quality Assurance Research Unit, Department of Human Genetics, University of Leuven, Leuven, Belgium.
Els
E
Dequeker
Department of Paediatrics, Universitäts-Kinderspital beider Basel (UKBB), Basel, Switzerland.
Brain
B
Fowler
Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Jayne Y
JY
Hehir-Kwa
Hannover Medical School, Institute of Human Genetics, Hannover, Germany.
Konstantin
K
Miller
VSOP-National Patient Alliance for Rare and Genetic Disorders, Soest, The Netherlands.
Cor
C
Oosterwijk
Division of Obstetrics and Gynecology, Clinical Institute of Medical Genetics, University Medical Center, Ljubljana, Slovenia.
Borut
B
Peterlin
Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
Conny
C
van Ravenswaaij-Arts
Division 3 Health/Forensics, Deutsche Akkreditierungsstelle GmbH (DAkkS), Office Frankfurt am Main, Germany.
Uwe
U
Zimmermann
Department of Medical Genetics, University of Pavia, Pavia, Italy.
Orsetta
O
Zuffardi
CEQA/UK NEQAS for Clinical Cytogenetics, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK.
Ros J
RJ
Hastings
National Centre for Medical Genetics, School of Medicine & Medical Sciences, University College Dublin, Our Lady's Children's Hospital, Dublin, Ireland.
David E
DE
Barton
D020732:Cytogenetic Analysis; D030881:Disclosure / Q000592:standards*; D005817:Genetic Counseling; D005820:Genetic Testing / Q000592:standards*; D006801:Humans; D025202:Molecular Diagnostic Techniques; D011296:Prenatal Diagnosis; D011785:Quality Assurance, Health Care