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NHS to benefit as Congenica adds two major data sources to genomic medicine platform

Congenica is integrating two powerful sources of data into its genomic medicine platform, which will help clinicians in the NHS using it to diagnose disease.

The Wellcome Genome Campus-based digital health technology company is adding data from DECIPHER and Mastermind to its software.

Used to support clinical decisions, Congenica’s software accelerates the interpretation of complex genomic data.

Dr Matthew Hurles, Congenica co-founder and scientific director (18405681)
Dr Matthew Hurles, Congenica co-founder and scientific director (18405681)

Next generation sequencing yields up to five million genetic variants per patient, which makes it challenging to identify quickly and with confidence what is causing disease. This means that using diverse reference datasets can be vital in the clinical interpretation of a patient’s sequencing data.

Adding DECIPHER, an interactive, web-based platform, gives Congenica customers access to contextualised and phenotypic information on pseudonymised variants that can cause disease from more than 33,000 patients with rare conditions.

The DECIPHER data contains sequence variants and copy number variants (CNVs), which complements Congenica’s existing catalogue of curated variants.

The company says this will aid diagnosis by reducing the chance of variants relevant to disease going undetected.

Congenica’s co-founder Dr Matthew Hurles, head of human genetics and senior group leader at Wellcome Sanger Institute and a leader in the Deciphering Developmental Disorders (DDD) and DECIPHER projects, said: “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.”

Meanwhile, Congenica has entered into a partnership with Genomenon to incorporate its Mastermind Genomic Search Engine into the software.

Containing the largest, most up-to-date collection of genomic literature, it gives users immediate access to the genetic research associated with patient variants, cutting down the time needed to interpret a variant.

Mike Klein, CEO of Genomenon, said: “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, added: “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.”

Congenca’s contract with Genomics England, through which it became the exclusive interpretation partner for the NHS Genomic Medicine Service, helped it earn nominations for Medtech Company of the Year and Life Science Company of the Year in the Cambridge Independent Science and Technology Awards, being held on October 30.

Also competing in the medtech category are Cambridge Epigenetix, Endomag and PredictImmune. Vying with Congencia in the life science category, sponsored by BioStrata, are Abcam, Owlstone Medical and Phoremost.

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