About Cartagenia

Genetics is one of medicine’s fastest growing fields as man’s ability to capture, store and interpret genetic data expands exponentially. Applications and demand are set to rise dramatically over the next 20 years.

This presents four major challenges.

1. To reduce laboratory throughput time, i.e. lab technician time between when genetic assay data becomes ready and when the lab report goes out to the clinician. Unless this time can be slashed, laboratories face mounting backlogs, frustrated clients and soaring costs.
2. To optimize the analysis function, at both lab and, critically, clinician level. Genotype-phenotype matching can be a complex and time-consuming process, especially for rare and complex disorders. Analysis tools are essential to speed up the search for relevant genetic variants and interpret these in a clinically relevant context for the ultimate benefit of patients and carers.
3. To standardize the communications flow, cutting out paper traffic, reporting in standard, easy-to-use formats and optimizing access to reference case data and relevant research, while maintaining privacy and integrity.
4. Knowledge sharing. No one clinic’s case history base is large enough to reliably interpret genetic data when dealing with rarer and more complex disorders. Clinicians need to draw on outside data they know to be reliably sourced, well organized and population-specific. Active data-sharing in a consortium or community optimizes the interpretation capacity of each participant institution.

Cartagenia is an integrated response to these challenges.