The throughput and quality of next generation DNA sequencing brings DNA-based personalised diagnostics within reach. Routine application in medical diagnostics and treatment strategies will soon become possible.
These technological improvements help us study genetic germline variation and somatic mutations. Such changes have a large impact
on human diseases and on human response to environmental conditions, but are as yet poorly accounted for in our healthcare system.
The Centre for Genome Diagnostics (CGD) aims to change this within the next five years. Implementation of NGS based diagnostics as
a routine clinical decision making tool in healthcare will significantly improve diagnostics as well as downstream opportunities for prevention and efficacy of treatment.
To this end, a medical genome sequencing infrastructure for nation wide implementation will be developed, as well as bio-informatics tools for data analysis and interpretation. Practical guidelines for clinical decision making based on personal genome information will be implemented. Also, utility in routine medical care approaches will be validated and novel medical applications developed. Finally, CGD wants to educate clinical experts, health care professionals and the general public.
Centre for Genome Diagnostics factsheet