Delivering clinically relevant genomic annotation at scale

Developing a deployment environment and managed component architecture for genomic annotation services, and incorporating a range of quality, performance and audit metrics, information governance and regulatory requirements.

As the world of genomic medicine becomes an increasingly important and affordable part of the future of medicine, so genomic annotation is emerging as an necessary complement to clinical decision making. Not only does it enable the interpretation of data from DNA sequencing based on current scientific and medical knowledge, but it can also inform the likelihood of disease progression and prognosis for a patient, and can identify potential treatment response. It therefore has the potential to improve treatment efficacy and reduce unnecessary side effects in patient populations.

Genomic annotation is currently a limited add-on to clinical diagnostics and whole genome sequencing is predominantly a research activity; however, this is changing and pioneering healthcare and research collaborations are increasingly looking at ways of using genomic data are provided to support patient care, research use and stimulate innovation. This requires data emerging from next generation sequencers to be interpreted and presented to clinicians in a meaningful, actionable way. The real challenge is how genetic material is usefully presented to the clinical community in order to become a routine part of clinical decision making, given their currently limited knowledge and skills in this emerging area.

Aridhia is leading a collaboration which aims to develop a deployment environment and managed component architecture for annotation services which will address the challenges of standardising data outputs required to deliver clinically relevant reports, as well as the operational challenges in storing and linking genomic and phenotype data on the same platform to support annotation, and in identifying the best way to present this information to clinicians in an easily interpreted format.

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