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Clinithink has helped to achieve a GUINNESS WORLD RECORDS title for the Fastest genetic diagnosis.

The project successfully compressed the time needed to diagnose rare genetic disorders in newborns through DNA sequencing to 19.5 hours, setting a new GUINNESS WORLD RECORDS title in a seamless end-to-end process and provided further evidence of its patented CLiX natural language processing (NLP) solution used in clinical trials.

Clinithink participated in this exciting project with Rady Children’s Institute of Genomic Medicine (RCIGM), San Diego, California and its partners, including Alexion, Illumina, Edico Genome and Diploid.

Clinithink’s patented CLiX natural language processing (NLP) solution was needed for two key activities in the process: quickly combing through electronic medical records to extract crucial phenotype information to then compare with over 12,000 phenotypes (plus an additional 15,000 synonyms) describing the characteristics of thousands of rare diseases. The solution can perform both of these tasks in seconds compared to the hours or days it would take a highly skilled specialist physician to do.

Sarah Beeby SVP, Life Sciences said: “Not only did this exciting project prove the value of our technology, the humbling reality is that this work can help save the lives of children with rare diseases.”

Narrative data is a valuable asset in healthcare but is largely inaccessible due to its lack of structure as existing technologies rely on structured data or key word searches. CLiX can ‘read’ thousands of clinical documents an hour and extract the information they contain. This has significant benefit, as shown with the Rady collaboration, in the clinical setting and is also very powerful for clinical trials as it can optimize the development process along the entire continuum – site selection, protocol optimization and enrolment. In simple terms our software can automate the bulk of pre-screening and site feasibility which is still undertaken manually. By targeting very specific patient inclusion/exclusion criteria, even down to specific start and stop events, key symptoms, medications and thousands of other variable criteria software can be used to speed up clinical trials.

Sarah Beeby, continued: “As well as being an incredibly empowering project to be involved with it also enabled us to put CLiX through its paces and be even more confident in its ability. By using CLiX in the clinical trial setting we can offer significant de-risking for the program and potentially significant savings in development time by decreasing the total enrolment time, reducing protocol amendments, improving data robustness for the next development stage, etc. As we all know time is a big factor with a significant number of trials failing to meet enrolment timelines.”

Clinithink CEO, Dr Chris Tackaberry said: “We are absolutely delighted that our patented CLiX natural language processing (NLP) solution played a key role in this success. Not only did this exciting project prove the value of our technology, the humbling reality is that this pioneering work can help save the lives of children with rare diseases. We are extremely proud of the contribution our solution can make to the care of those children.”

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