By Diagnostics World Staff
October 2, 2019 | Congenica today announced the integration of new reference data sources into its clinical decision support platform: data from DECIPHER and a partnership with Genomenon and its Mastermind solution. 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.
Congenica’s software accelerates the interpretation of complex genomic data into actionable information to aid disease diagnosis.
“The addition of DECIPHER and Mastermind significantly enhances the already comprehensive range of data sources available in Congenica,” said Rob Denison, CIO of Congenica, in a statement. “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.”
DECIPHER is an interactive, web-based platform providing contextualized and phenotypic information on pseudonymized, plausibly disease-causing variants from over 33,000 rare disease patients.
“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,” said 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 in the announcement. “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.”
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.
Mastermind Integration
Congenica also announced a partnership with Genomenon today 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.
Congenica users will be able to quickly access the genetic evidence associated with their patients’ variants and, with a single click, gain access to the full list of articles within Mastermind to shorten the search time required to clinically interpret a variant and support its pathogenicity. Mastermind has indexed nearly 7 million full text articles and 500,000 supplemental data sets and covers over 4.9 million variants found in the medical literature.
“Mastermind brings a new dimension to the Congenica platform, aiding variant interpretation by reducing the manual effort required to curate the rapidly growing body of genomic research, improving the likelihood of finding key genetic insights that could be critical for diagnosis,” said David Atkins, CEO of Congenica, an the announcement. “We believe that our growing number of global users will find a great deal of benefit from having Mastermind available with the Congenica platform.”
“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.” said Mike Klein, CEO of Genomenon in the same statement. “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.”