Monday 26th November 2012
Time: 12.40pm tea/coffee, 1.00pm start
Kennedy Lecture Theatre, UCL Institute of Child Health.
If you would like to suggest someone as a speaker, please contact the OWL Committee Chair, Professor Christine Kinnon.
For any administrative questions, please contact Nicole Hofmans.
Precision Medicine: Only Precise With Deep Phenotyping
Part of the Otto Wolff Lecture series 2012
Professor Raoul Hennekam
Professor of Pediatrics and Translational Genetics, Department of Pediatrics, Academic Medical Center, University of Amsterdam
The introduction of Next-generation sequencing (NGS) offers us the most powerful diagnostic tool since the advent of Xrays. NGS will facilitate diagnosis on a massive scale, allowing interrogation of all genes in a single assay. This way it will form the backbone of medicine exactly targeted for each individual (precision medicine). It has been suggested repeatedly that NGS will decrease the need for phenotyping in general and in genetics in particular. I argue that NGS will shift focus and approach of phenotyping, both in genetics as in medicine in general.
I predict that NGS performed for diagnostic purposes will yield variants in several genes, and consequences of these variants will need to be analyzed and integrated with clinical findings to make a diagnosis. Diagnostic skills of medical specialists will shift from a pre-NGS-test differential diagnostic mode to a post-NGS-test diagnostic assessment mode.
In research phenotyping and medical 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. After all, monogenic disorders do not exist. 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.
My conclusion is that there will be a critical need for phenotyping and clinical analysis if we want to use the full potential of NGS, and that geneticists are uniquely positioned to address this need.
Raoul Hennekam received his specialty trainings in Paediatrics and in Clinical Genetics at Utrecht University. He was appointed as professor of Paediatrics and Clinical Genetics in 2002 at the AMC 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 Translational Genetics in Amsterdam. Main scientific interests include intellectual disabilities, autism, connective tissue disorders, and (molecular) dysmorphology. He is member of the Dutch Health Council, European Editor of American Journal of Medical Genetics and of European Journal of Medical Genetics, author of >400 papers in peer-reviewed journals (H-index 63) and 12 chapters in international texts, co-chair of the international Morphology Nomenclature Committee, and senior editor of ‘Gorlin’s Syndromes of the Head and Neck’.