Name: Clinithink
Price range: $$

CLiX® focus

Rare disease diagnosis is a hugely challenging, and labour-intensive process. Very few clinicians have specialist knowledge or expertise in this area. With over 7,000 diseases, a definitive diagnosis can take years – the diagnostic odyssey - creating a significant burden of illness for the patient, their family, and the wider health economy.

Clinithink's proven CLiX® intelligence platform uses AI technology to carry out rapid, large-scale automated deep phenotyping, combing hundreds of documents in seconds, looking for any of 12,000 rare disease phenotypes that could indicate an underlying rare genetic disease. In doing so, it helps to accelerate both the diagnosis and treatment of rare disease.

By supporting clinicians, CLiX focus can improve the recognition of rare disease as a potential cause of illness and help shorten the time to diagnosis and treatment - reducing or even eliminating the diagnostic odyssey in some instances. By speeding up definitive diagnosis, CLiX focus can reduce the burden of illness caused by rare disease.

Why use CLiX focus?

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Speeds-up diagnosis

Drastically reduces the time taken to diagnose rare diseases, which helps in expediting the correct treatment pathway.

Reduces care costs

Automatically compares >12,000 phenotypes for 1,000's of rare diseases, and helps to avoid a costly diagnostic odyssey.

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Saves clinical time

Extracts 28 times more phenotypes
compared to manual review.

Key features & benefits

Key Feature:

Automate HPO (Human Phenotype Ontology) code extraction to look for phenotype signatures of rare disease.

Benefit:

Find potentially undiagnosed patients who can be offered genetic testing.

Key Feature:

Operates at scale across very large datasets looking for matches with over 12,000 phenotypes.

Benefit:

Search population datasets for very low prevalence characteristics.

Key Feature:

Search millions of documents in hours.

Benefit:

Reduce time, effort, cost and length of diagnostic odyssey.

What CLiX® focus users say...

“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. 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."

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

“Some people call this artificial intelligence, we call it augmented intelligence. Patient care will always begin and end with the doctor and by harnessing the power of technology we can quickly and accurately determine the root cause of genetic diseases.”

Stephen Kingsmore

President & CEO Rady Children’s Institute for Genomic Medicine, San Diego, USA

“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. 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.”."

Mark Yandell

Professor Mark Yandell, Professor of Human Genetics and Edna Benning Presidential Endowed Chair at University of Utah

“You can’t clone our physicians to cope with increasing demand... Each operator comes up with different terms... Manual phenotype extraction is not scalable – there is a huge urgency to move to semi-automatic processes...”

Stephen Kingsmore

President & CEO Rady Children’s Institute for Genomic Medicine, San Diego, USA

CLiX focus

CLiX® focus

Why use CLiX focus?

Speeds-up diagnosis

Reduces care costs

Saves clinical time

Key features & benefits

Key Feature:

Benefit:

Key Feature:

Benefit:

Key Feature:

Benefit:

What CLiX® focus users say...

Luca Brunelli

Stephen Kingsmore

Mark Yandell

Stephen Kingsmore

Ready to talk?