Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential

Authors

Gburek-Augustat J^{1 2 3}, Schoene-Bake JC^{2 4}, Bültmann E⁵, Haack T⁶, Buchert R⁶, Synofzik M⁷, Biskup S;⁸, Feuerhake F⁹, Sorge I¹⁰, Hartmann H²

Division of Neuropediatrics, University Hospital, Hospital for Children and Adolescents, Leipzig, Germany.
Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
Department of Neuropediatrics, Developmental Neurology, Social Paediatrics, University Children’s Hospital Tuebingen, Tuebingen, Germany.
Gemeinschaftspraxis fuer Humangenetik, Hamburg, Germany.
Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
Department of Medical Genetics and Applied Genomics, Rare Disease Center Tübingen, University of Tübingen, Tübingen, Germany.
Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.
Institute for Pathology, Hannover Medical School, Hannover, Germany.
Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Germany.

Abstract

New genetic testing technologies have revolutionized medicine within the past years. It is foreseeable that the development will continue with the introduction of new techniques. Nevertheless, despite improved technology, an exact clinical description of the phenotype is still necessary and it is important to critically question findings, both before initiating genetic testing and when interpreting the results. We present four brief case vignettes to point out difficulties associated with correctly interpreting genetic findings.

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