*Location: Auditorium, Level 6, Bancroft Building, QIMR Berghofer
*Date: 07/08/2017
*Time: 14:00

Speaker #1 details
*Title of talk: Next Generation Sequencing demands Next Generation Phenotyping
*Speaker's name: Professor Raoul Hennekam
*Speaker's organisation: University of Amsterdam
Speaker's city/state/country: The Netherlands
Talk Abstract: Next-generation sequencing (NGS) facilitates diagnosis on a massive scale, allowing interrogation of all genes in a single assay. It is suggested that NGS will decrease the need for phenotyping by medical specialists. I argue that NGS is only shifting focus and approach of phenotyping. NGS performed for diagnostic purposes, especially when using panels of genes targeted for a sign or symptom, is yielding variants in several genes, and consequences of these variants need each time to be analyzed and integrated with clinical findings to make a diagnosis. Diagnostic skills of medical specialists are shifting from a pre-NGS-test differential diagnostic mode to a post-NGS-test diagnostic assessment mode. In research phenotyping and other genetic assessments will remain essential as well. NGS can identify primary causative variants in phenotypes inherited in a Mendelian pattern, but biology is much more complex. Phenotypes are caused by the actions of several genes and epigenetic and environmental influences. Dissecting all influences necessitates ongoing and detailed phenotyping, refinement of clinical diagnostic assignments, and iterative analyses of NGS data. We conclude that there was, is and still will be a critical need for phenotyping and clinical analysis, and medical specialists are uniquely positioned to address this need.
Speaker's bio: Raoul Hennekam received his specialty trainings in Paediatrics and in Clinical Genetics at Utrecht University. He was appointed as professor of Paediatrics and of Clinical Genetics in 2002 at the Academic Medical Center of University of Amsterdam. During 2005-2010 he worked in London at Institute of Child Health and Great Ormond Street Hospital as professor of Clinical Genetics and Dysmorphology. He is presently working as professor of Paediatrics and of Translational Genetics in Amsterdam. Main scientific interests include intellectual disabilities, autism, aging, connective tissue disorders, and (molecular) dysmorphology. He is member of the Dutch Health Council, EUCERD, European Research Council, Editor of American Journal of Medical Genetics, of the European Journal of Medical Genetics and of European Journal of Pediatrics, author of 500 papers in peer-reviewed journals (H-index 68) and 24 chapters in international texts, co- chair of the international Morphology Nomenclature Committee, and senior editor of 'Gorlin's Syndromes of the Head and Neck'.

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*Host name: QIMR Berghofer
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*Host email: events@qimrberghofer.edu.au