University of Utah Health, a world class healthcare provider and research institution has partnered with Clinithink to use its CLiX focus solution to improve the diagnosis and treatment of rare disease.
With specialist expertise in genetics, precision medicine and population health, University of Utah Health is a leading innovator in pushing the frontiers of rare disease management.
Clinithink’s patented CLiX technology lies behind the ground-breaking clinical natural language processing (NLP) ability of its solutions. CLiX focus automates deep phenotyping to support diagnosis in rare disease. CLiX focus has been optimized to identify any one of the 12,000 phenotypes associated with rare diseases by matching clinical findings recorded by physicians in a patient record with the rare disease phenotypes.
Conventionally, deep phenotype analysis is achieved through manual review of patient information by a specialist geneticist and can take days or even weeks. CLiX focus can identify potentially relevant phenotypes in seconds, paving the way to a transformation of this part of the diagnosis process through automation.
The Neonatal Intensive Care Unit (NICU), where sick newborn children are cared for, is an environment where speed of diagnosis really counts. Rare genetic disorders are a relatively common cause of admission to the NICU. Rapid diagnosis and then treatment can make a huge difference.
“Treatments are increasingly becoming available for rare genetic disorders. I and many of my colleagues in the field think that screening for rare disease should be routine for all admissions in high-acuity NICUs” said Luca Brunelli, MD, PhD, Professor of Pediatrics, and Director of the Neonatal Genomics Program in the Division of Neonatology at the University of Utah School of Medicine. “However, using traditional methods for deep phenotyping, our service could not scale to meet that demand. Using automated deep phenotyping as part of the diagnostic process is a game changer. We are now routinely screening our admissions for rare disease and CLiX focus is an essential component of that process. I believe that all high-acuity NICUs should be doing this.”
Professor Mark Yandell, Professor of Human Genetics and Edna Benning Presidential Endowed Chair at University of Utah, added:
“We have extensive experience with technology in the genetic disease space. NLP is a vital component of the diagnostic process because it allows us to automate deep phenotyping. We evaluated a number of vendors thoroughly before selecting Clinithink’s CLiX focus. It is the best we have seen for deep phenotyping in rare disease. We have now added CLiX focus to our existing analysis pipeline comprising software we have developed in house and demonstrated very powerful deep phenotyping capability as a result. Combining these capabilities with genotype analysis using Fabric Genomics has enabled us to provide rapid rare disease diagnosis for NICU admissions which can be done on a repeatable and scalable basis. This is very exciting.”
“Naturally we are delighted that the University of Utah has chosen Clinithink to provide the NLP capability they require for automated deep phenotyping in rare disease. We are thrilled to be collaborating with the University of Utah team and we are extremely proud to know that our software is helping to improve care for children with rare genetic disease.” said Chris Tackaberry, CEO and Co-founder, Clinithink.
Clinithink’s platform delivers the deepest, fastest and most accurate analysis of unstructured data across patient populations currently possible. Whether it’s to better understand a vulnerable population, to highlight important phenotypes or to reduce the risk of denied claims for providers, Clinithink’s solutions provide healthcare decision-makers with better information and insight. Through automation, these insights can be gained in a fraction of the time of that manual processing would require and at reduced cost. For further information contact firstname.lastname@example.org