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.
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.
This is an astonishing achievement and makes a huge difference to the care of critically ill newborn children suffering from rare disease because of the huge potential to improve the outcome made possible by faster diagnosis.
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.
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.”
A short video can be viewed for further information here.
The full press release can be viewed here.
Note to Editors:
See further information from the Rady Children’s Institute for Genomic Medicine (RCIGM) led consortium at: https://www.rchsd.org/about-us/newsroom/press-releases/new-guinness-world-records-title-set-for-fastest-genetic-diagnosis/