Cambridge, United Kingdom - 02 October, 2019 - Congenica Ltd, a digital health technology company enabling accelerated interpretation of complex genomic data to improve disease diagnosis, has announced significant developments to its software solution, with the integration of powerful new reference data sources, DECIPHER and Mastermind® into its clinical decision support platform.
Congenica® is state-of-the-art software accelerating the interpretation of complex genomic data into actionable information to aid disease diagnosis. The platform is empowering healthcare professionals around the world to work through more cases with greater efficiency, increase diagnostic yield and have greater confidence in their diagnostic decisions.
Next Generation Sequencing (NGS) yields up to five million variants per patient, making it challenging to quickly identify and properly evidence the disease-causing variants. Diverse reference datasets are increasingly being utilised to aid the clinical interpretation of patient NGS data.
DECIPHER is an interactive, web-based platform providing contextualized and phenotypic information on pseudonymised, plausibly disease-causing variants from over 33,000 rare disease patients. Integration of DECIPHER data, containing sequence variants and copy number variants (CNVs), complements Congenica’s existing offering of curated variants to reduce the chance of disease-relevant variants going undetected and improve the assignment of variant pathogenicity to optimize diagnostic yield.
Dr Matthew Hurles, FMedSci, FRS, Head of Human Genetics and Senior Group Leader at Wellcome Sanger Institute and a leader in the Deciphering Developmental Disorders (DDD) and DECIPHER projects: “DECIPHER is an invaluable scientific and clinical resource widely used by the clinical genetics and research community. The integration of DECIPHER curated variants and phenotypes into Congenica will greatly aid the identification of diagnostic variants in patients with rare disorders.
“Ultimately, this will help to establish whether the observed variant is likely causal for the phenotype of the patient, allowing clinical scientists and clinicians to make quicker diagnoses with greater confidence.”
Congenica also announced a partnership with Genomenon® to incorporate its Mastermind® Genomic Search Engine into the Congenica platform. Mastermind contains the largest most up-to-date collection of genomic literature, providing immediate access to the genetic research associated with patient variants.
The addition of Mastermind will enable Congenica users to quickly access the genetic evidence associated with their patients’ variants, shortening the search time required to clinically interpret a variant and support its pathogenicity.
DECIPHER and Mastermind data will be available to all Congenica GRCh37 and GRCh38 customers, including the UK’s National Health Service (NHS) as part of Congenica’s arrangement as the exclusive decision support platform provider for the NHS Genomic Medicine Service.
Mike Klein, CEO of Genomenon: “We’re thrilled to partner with Congenica to put the most comprehensive and up-to-date genetic research in the hands of geneticists making clinical diagnoses. Our relationship extends Mastermind’s global reach, and coupled with Congenica, provides significant value in cutting turnaround time and increasing diagnostic yield for genetic labs.”
Rob Denison, CIO of Congenica: “The addition of DECIPHER and Mastermind significantly enhances the already comprehensive range of data sources available in Congenica. We are committed to empowering healthcare professionals everywhere with access to the best reference datasets in a single platform so that Congenica users can make better diagnostic decisions, faster and with complete confidence, to improve the lives of patients and their families."