Congenica was recently announced as a finalist for the Bio-IT World 2017 Best Practices Award for the submission of the NIHR BioResource (NBR-Rhttp://www.bio-itworld.com/2017/04/14/bio-it-world-announces-finalists-for-best-practices-awards.aspxD) case study, as an example of how Sapientia was implemented to support the launch of a new, cost-effective genetic test for thrombotic and platelet disorders (BPDs). Sapientia, used for clinical interpretation and reporting, was a key part of making the project a success.

The Bio-IT World Best Practices Awards were first established in 2003 to recognize excellence in bioinformatics, clinical research and the IT infrastructure supporting biology and drug discovery. Past winners have included Amgen, AstraZeneca, DNAnexus, Biogen, University of California and many others.

NIHR BioResource and the new ThromboGenomics Test

The NIHR BioResource – Rare Diseases (NBR-RD) has been established to identify genetic causes of rare diseases, improve rates of diagnosis and to enable studies to develop and validate treatments, improving care for those with rare diseases and their families.

Bleeding, thrombotic and platelet disorders (BPDs) are a group of rare diseases that affect around 300 individuals per million births. There are 80 genes recognised as being associated with BPDs but genetic testing for such patients is not routinely offered, partly due to the cost of sequencing, and patients often have to wait several years and undergo several tests to get a conclusive diagnosis.

The NBR-RD team in Cambridge, UK, has developed ThromboGenomics, an affordable high throughput sequencing platform that screens simultaneously for all the genes known to be associated with bleeding, thrombotic and platelet disorders, replacing the traditional single gene-based Sanger sequencing approach. It is available to clinicians in the NHS and beyond.

Congenica has supported the NIHR BioResource – Rare Diseases in making this test successful.  Sapientia helps in the interpretation by linking variants identified through the test to external resources (reference datasets, curated variant lists, ClinVar, HGMD, PubMed…) and to an internal dataset of patients. The information is accessible through a single web browser for consideration by a multi-disciplinary team comprising consultant haematologists, clinical scientists and bioinformaticians. The meetings can be held remotely, bringing together experts who may be located anywhere in the world, improving accuracy and speed of interpretation. Reports can then be automatically generated and e-mailed to the clinicians.

Dr Karyn Mégy, Clinical Feedback Lead in the NBR-RD team, commented: “Sapientia’s web interface is a brilliant tool to bring the different experts in our multidisciplinary teams together. We involve clinicians working with the patients, and they come from all over the world, mostly the UK and the EU, but also the US, Canada and Israel. The web browser means everyone can have access to the same data at the same time without having to install anything; this has really facilitated our collaborations.”

For patients, this new genetic test is already making a huge difference to their quality of life, allowing rapid diagnosis and access, where available, to appropriate treatment.

The Award Winners will be announced LIVE on May 25th at 8am during the plenary keynote session.

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