Two new reference data sources, Mastermind and DECIPHER, are being added to Congenica’s clinical decision support platform for genomic data interpretation. Genomenon’s Mastermind, which is used by hundreds of genetic labs worldwide, 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. DECIPHER contains disease-causing variants from over 33,000 rare disease patients.
“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. “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. “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.”
DECIPHER, meanwhile, is a scientific and clinical resource widely used by the clinical genetics and research community to help diagnose novel or extremely rare variants. It is a web-based platform for secure deposition, analysis, and sharing of plausibly pathogenic genomic variants from well-phenotyped patients suffering from rare genetic disorders. The DECIPHER database has been built by an international community of academic departments of clinical genetics and rare disease genomics that now includes more than 250 projects and more than 19,000 cases. DECIPHER has contributed to matchmaking efforts by enabling the global clinical genetics community to identify many previously undiagnosed syndromes and new disease genes, and has facilitated the publication of over 800 peer-reviewed scientific publications since 2004.
“The integration of DECIPHER curated variants and phenotypes into Congenica will greatly aid the identification of diagnostic variants in patients with rare disorders,” says 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. “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.”
Mastermind and DECIPHER will both be available to all Congenica users, 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. Each Congenica user at the national network of UK laboratories that provide genetic testing for NHS patients will be given access to Mastermind Professional Edition, directly integrated within the Congenica platform.
“The addition of DECIPHER and Mastermind significantly enhances the already comprehensive range of data sources available in Congenica,” says Rob Denison, Congenica’s CIO. “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.”