Centre for Genome Diagnostics: Next-generation sequencing-based diagnostics as a routine clinical decision making tool in health care


General Background
Genetic germ-line variation and somatic mutations have a great impact on human diseases and response to environmental conditions (including drug treatment). The impact of these genetic variations is poorly accounted for in the current healthcare system. The throughput and quality of next-generation DNA sequencing technology now brings DNA-based personalized diagnostics within immediate reach for routine application in medical diagnostics and treatment strategies.

Objective
Our primary objective as Centre for Genome Diagnostics is implementation of NGS-based diagnostics as a routine clinical decision making tool in health care within the next 5 years in The Netherlands. To this end, we will 1) develop a medical genome sequencing infrastructure for nation-wide implementation, 2) develop bioinformatic tools for data analysis and interpretation, and implement practical guidelines for clinical decision making based on personal genome information 3) validate utility in routine medical care approaches and develop novel medical applications, 4) educate clinical experts, health care professionals, and the general public.

Project description
NGS-based personalized diagnostics will result in significantly improved diagnostics (speed, completeness) as well as downstream opportunities for prevention and efficiency of treatment. DNA-guided treatment affects a broad range of clinical disciplines and is therefore of immediate relevance to patients and the public health care system in general.

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