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A web focus from European Journal of Human Genetics and Oncogene.
Next generation sequencing is rapidly pervading all areas of Human genetics: improving speed, precision, and last but not least breadth of diagnostics; opening up new avenues of screening; are screening and testing still different or is there a confluence? In parallel, it profoundly affects basic biology discovery by unravelling mutation mechanisms and causes and consequences in gene regulation and what goes wrong in genetic disease and cancer. Besides many insights, the data deluge also brings questions: on how to handle this, internally and towards the patients; the role of geneticists in the process; how - and if - to integrate direct to consumer services; how to maintain a proper public-private balance to allow therapy development but avoid undue restrictions in data access.Follow the contributions to this debate in European Journal of Human Genetics and Oncogene.