Brief description of problem addressed by product (250)

Sapientia enables faster diagnoses and raises diagnostic yields for patients suffering from monogenic rare diseases.

There are more than half a billion people living with a rare disease. Seven percent of the world’s population. Eighty percent of their diseases have a genetic component, some with only one mutation amongst 3.2 billion nucleotides. These may be inherited, or be de-novo mutations and others may be mutations so rare that they have never been seen before.

The unfortunate fact is that rare disease is not that rare and 95% of these diseases have no treatment available and tragically, most rare disease patients won’t reach their fifth birthday.

Whole genome and whole exome sequencing, tantalisingly, offers humanity’s best chance to take the initiative in the battle against disease and it was this opportunity that galvanised five of the world’s leading geneticists to found Congenica and develop Sapientia.

Spun out of the pioneering Deciphering Developmental Disorders (DDD) research project at the Sanger Institute, Sapientia provides variant calling pipelines and an interpretation interface that enables identification of causal variants and gives users the power to bring the average diagnostic odyssey down from 7.3 clinicians over 4.8 years to just 1 clinician and 5 days.

In addition to the reduction in clinical costs, this rapid diagnosis provides some peace of mind for the affected individual and their family, which also enabling treatment plans to be implemented at the earliest possible opportunity.

Brief product description & technical specifications (250)

Sapientia integrates a suite of powerful analytical tools, enabling rapid, accurate and scalable interpretation of a patient’s whole genome, whole exome or gene panel data facilitating a swift, actionable and comprehensive diagnosis.

Central to Sapientia is the fully integrated Genome Browser, which allows customers to thoroughly interrogate and visualise the patient’s variants. It includes a karyogram display to navigate chromosomes, alongside SNPs, small insertions and deletions, CNVs and larger structural variants.

The system integrates leading tools such as Exomiser, which allows users to prioritise variants according to their relevance to patients’ phenotypes whilst filtering out common and synonymous variants. It leverages reference databases including ClinVAR and DECIPHER, unified alongside Congenica’s own internal knowledgebase of HPO annotated variants curated by clinical experts through routine use of the platform, and users’ own databases.

Powerful bioinformatics pipelines underpin these systems and are developed by Congenica’s world-class bioinformaticians. Clinical diagnoses and reports are signed-off by a team of leading registered clinical scientists. The easily scalable, secure and ISO certified cloud based platform of Sapientia allows for effortless asynchronous multi-disciplinary meetings with complete confidence.

Sapientia is easy to adapt and consolidate into a wide range of instantly scalable workflows; from a lab deeply interrogating an individual sample or labs processing population wide studies. Congenica has proven this through our role as an official interpretation partner for the UK 100K Genomes Project.

Sapientia enables clinicians to interpret a patient’s genome in as little as 30 minutes, empowering doctors and clinicians to diagnose the previously undiagnosable.

Brief description of innovative technology (250)

Sapientia facilitates rapid, accurate diagnosis of rare diseases by integrating a suite of ‘best in class’ analytical tools in an intuitive User Interface. Comprehensive diagnosis is simplified by enabling users to view and interpret patients’ genotypic and phenotypic data while delivering supporting information via the Sapientia knowledgebase.

Sapientia presents whole genome, exome or gene panel data in a single integrated platform. This allows for quick and easy interrogation and annotation of genes and their pathogenicity using HPO terms, and supported by an ever expanding knowledge base drawn from gold-standard variant databases and academic publications.

Furthermore, Sapientia provides clinicians with a secure, ISO certified platform to share their diagnoses and discoveries for mutual benefit. Users are able to connect with other organisations to see if their patient’s variant has been seen before and with those that have diagnosed similar cases in the past.

These decisions and diagnoses provide valuable peace of mind, closure and reproductive knowledge to the families of patients avoiding an arduous and dehumanising diagnostic odyssey.

By using Sapientia, the Manchester Centre for Genomic Medicine (MCGM), UK, has been able to scale up the genetic testing in its ophthalmology department from undertaking single gene sequencing for 10 - 15% of patients to being able to offer gene panels of up to 170 genes to 100% of patients.

Congenica’s platform is also deployed at St.George's University Hospital in Tooting, southwest London. Here, Sapientia was used to reach clinical diagnoses in just 3 weeks, an impressive 13 weeks earlier than through traditional methods.