Clinical data specialists Clinithink have helped to achieve a Guinness World Record 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 title. The company participated in the project with Rady Children’s Institute of Genomic Medicine (RCIGM) in San Diego, California and its partners, including Alexion, Illumina, Edico Genome and Diploid.
Sarah Beeby SVP, of Life Sciences at Clinithink 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.”
Clinithink’s 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 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.
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.
“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, said Beeby. “As we all know time is a big factor with a significant number of trials failing to meet enrolment timelines.”