VUS; genetic testing; next generation sequencing; reporting
Abstract :
[en] Over the last decade, next generation sequencing (NGS) has become an essential tool for diagnostic DNA testing in human genetics. To improve the understanding of available genetic testing strategies and to facilitate the request of genetic testing in daily endocrine practice, clinical and laboratory experts in the field have summarized the major issues which should be known and considered. In this joint position paper of the ENDO-ERN, the roles and responsibilities of the health care professionals involved in the diagnostic workflow are described, and the major issues concerning genetic testing workflows are overviewed. These issues encompass all relevant steps, including test request and pre-analytical procedures, laboratory and data processing workflows, quality assurance, and reporting. As NGS procedures result in an increasing number of variants of unknown significance and incidental findings, these aspects are addressed as well. Accompanied by illustrations of the genetic diagnostic workflow and of concise reports for a fast orientation about the major aspects of genetic testing, this joint paper should support the health care professionals during a request for genetic testing.
Precision for document type :
Review article
Disciplines :
Endocrinology, metabolism & nutrition
Author, co-author :
Eggermann, Thomas ; Center for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Aachen
Lildballe, Dorte L; Department of Molecular Medicine (MOMA) Aarhus University Hospital, Denmark
Cools, Martine; Department of Internal Medicine and Paediatrics, Ghent University, Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
von Nesselrooij, Bernadette; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
Neocleous, Vassos; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Fanis, Pavlos; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Stoupa, Athanasia; Paris Regional Newborn Screening Department, Necker Children's University Hospital, Paris Cité University, Cochin and Imagine Institutes, Paris, France
Brandi, Maria Louisa ; FIRMO Foundation and University of Florence, Florence, Italy ; McMaster University Hamilton, Canada
Baronio, Federico; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Barlier, Anne; Aix Marseille Univ, APHM, INSERM, MMG, La Timone University Hospital, Laboratory of Molecular Biology GEnOPé, BIOGENOPOLE, MARMARA Institute, Marseille, France
Grasemann, Corinna; Department of Pediatrics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
Bonomi, Marco ; Department of Medical Biotechnology and Translational Medicine - University of Milan, Milan, Italy ; Department of Endocrine and Metabolic Diseases - IRCCS Istituto Auxologico Italiano, Milan, Italy
de Krijger, Ronald; Princess Máxima Center for pediatric oncology, Utrecht, The Netherlands, Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands
Menabò, Soara; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
Daly, Adrian ; Université de Liège - ULiège > Département des sciences cliniques
Asioli, Sofia; Programma Diagnostica Neuropatologica dei Tumori Cerebrali, IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy ; Department of Biomedical and Neuromotor Sciences (DIBINEM)-Alma Mater Studiorum- University of Bologna, Italy
O Connell, Susan; Children's Health Ireland (CHI) at Crumlin, Crumlin, D12 N512, Ireland
Marques, Pedro; Pituitary Tumor Unit, Hospital CUF Descobertas, Lisbon, Faculty of Medicine, Universidade Católica Portuguesa, Lisbon, Portugal
Raverot, Gérald ; Inserm U1052, Lyon 1 University, Endocrinology Department, Reference Center for Rare Pituitary Diseases HYPO, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France
Gatto, Federico ; IRCC Azienda Ospedaliera Metropolitana - Policlinico San Martino, University of Genoa, Genoa, Italy
Biermaz, Nienke ; Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Pelsma, Iris ; Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
van der Kaay, Danielle; Department of Pediatrics, Subdivision of Endocrinology, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, The Netherlands
Gravholt, Claus H ; Department of Molecular Medicine (MOMA) Aarhus University Hospital, Denmark ; Department of Endocrinology, Aarhus University Hospital, Denmark ; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
Persani, Luca; Department of Medical Biotechnology and Translational Medicine - University of Milan, Milan, Italy ; Department of Endocrine and Metabolic Diseases - IRCCS Istituto Auxologico Italiano, Milan, Italy
Phylactou, Leonidas ; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Prawitt, Dirk; Department of Pediatrics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
European Reference Network on Rare Endocrine Conditions (ENDO-ERN)
