Cambridge, United Kingdom – 22 July 2019 – Congenica, a digital health company enabling
accelerated genomic data interpretation, today announced it has renamed its software platform Congenica® and expanded its capabilities to include CNV calling for exome and gene panel sequencing. The latest software version will continue to streamline and enhance genomic
clinical interpretation and help to reduce time to diagnosis in healthcare systems globally.
Genomic medicine, the use of genetic data to diagnose and characterise disease, is a new but rapidly expanding area. It has the potential to not only help patients receive a diagnosis but also to inform which treatment would be most effective and which lifestyle choices will help
maintain wellness. Congenica’s software helps clinical scientists and physicians rapidly analyse and interpret a patient’s genomic data to make robust and personalised diagnoses.
CNVs are deletions or duplications of a specific region of DNA which are known to cause a range of conditions, including intellectual disability and other neurodevelopmental disorders. The combination of panel or exome sequencing with a powerful algorithmwill deliver the sensitivity
and specificity to detect rare CNVs from sequence data, streamlining the current lab-based approach to CNV detection and reducing time to diagnosis.
As part of the latest release of Congenica, a complete CNV module has been delivered, enabling calling and analysis of CNVs, single-nucleotide variants (SNVs) and Indels in one place, through a simple to implement and streamlined workflow.
Dr David Atkins, CEO of Congenica, said: “Empowering healthcare professionals to make important clinical decisions that transform the lives of patients is at the heart of everything we do at Congenica. That’s why we’ve changed the trade name of our software platform to make it synonymous with our company name and values.
“We collect a wealth of health information, amounting to trillions of data points, then interpret and understand every detail. Already, a diagnosis that could have taken years, can now happen in a matter of hours, providing patients with quick and accurate answers to previously unanswerable questions. Ultimately, we want to enable disease prediction and empower people
to maintain wellness and lead fuller lives.”
Today’s news coincides with the launch of a new company website and logo, which better reflects Congenica’s commitment to enabling genomic medicine and delivering life-changing answers for patients.
Congenica is a digital health company with the world’s leading clinical decision support platform for accelerated genomic data interpretation. Our software enables genomic medicine by integrating genetic data into healthcare, empowering clinicians to provide life-changing answers
that transform the lives of individuals, patients and their families.
Genetic diseases are technically difficult to diagnose, and patients often spend years waiting for a diagnosis. We convert genomic data into actionable information, expediting the process through more efficient and accurate analysis. This supports healthcare professionals in providing patients
with robust diagnoses and precise, personalised care.
Born out of pioneering research from the Wellcome Sanger Institute and the NHS, Congenica is headquartered in Cambridge, UK, with a global footprint across the US and China. Our platform is validated by the pivotal Genomics England 100,000 Genomes Project and we are the exclusive
clinical interpretation partner to the NHS Genomic Medicine Service.
Our visual identity was designed carefully and thoughtfully to represent the unique work we perform. At Congenica, we enable people to see patterns in genomic code that others don’t. We enable identification of unique genetic variants – revealing powerful diagnostic data and turning it into actionable insights to enable clinical decisions that were previously impossible.
Our logo style replicates this data interpretation in action by taking the hidden negative voids within the letterforms of the word ‘Congenica’, bringing them out into the open in bright colours. In effect the design re-interprets letters by finding hidden shapes within the body of the typeface itself – creating interesting, organic shapes that come uniquely from the word ‘Congenica’ – in short, the DNA of our own brand.
CNVs are alterations in the number of copies of specific regions of DNA, which can either be deleted or duplicated. CNVs are a significant source of genetic variation in the human genome, contributing to evolution and intra-human variability and diversity. However, they also contribute to the pathogenicity of a range of human disorders. A notable example is intellectual disability and other neurodevelopmental disorders, in which clinically relevant CNVs have been identified in an estimated 10–20% of patients.
The size of CNVs associated with genomic disorders can vary from as small as the size of an average exon (~100 – 200 bp) or gene (sub-microscopic events), to as large as chromosomal rearrangements of up to millions of base pairs that can be microscopically visible. Many patients
suffering from neurodevelopmental disorders harbour rare sub-microscopic deletions or duplications that, by affecting the copy number of dosage-sensitive genes or disrupting normal gene expression, lead to disease.
Chromosomal microarrays and Multiplex Ligation-dependent Probe Amplification (MLPA) have served as gold standards in molecular diagnostics for CNVs. However, microarray technology is limited to detection of large CNVs and MLPA has only been possible on a restricted number of genes. The range and complexity of possible genomic changes requires an approach that can simultaneously address a wide range of cytogenetic abnormalities and detect smaller CNV events with greater resolution and sensitivity. Exome sequencing, coupled with a robust CNV detection (calling) methodology, is a promising, cost-efficient approach to fulfil this challenge.
Congenica’s CNV Calling is a new module that can be introduced into the existing product with a single process. In addition to the existing Structural Variant and interpretation capabilities, the new version of Congenica provides improved sensitivity to detect rare CNVs and increased resolution to detect small CNVs (e.g. one or two exons).
The new approach means more accurate estimation of CNV boundaries and provides direct evidence for the underlying DNA rearrangement, when compared to chromosomal microarray and MLPA.
The module is simple to implement and configure and will lead to a streamlined workflow process.