Mastermind Genomic Search Engine Now Filters Evidence by Phenotype – Critical for the Genetic Interpretation of Rare Diseases
Genomenon® announced the release of Mastermind® version 2.0. The Genomic Search Engine now includes the ability to search the entirety of the genomic literature by phenotypes (symptoms). This new functionality will further accelerate diagnosis of patients with genetic and rare diseases.
Patients, particularly those with rare diseases, don’t always have a name for their condition. This makes it very difficult to diagnose and treat their disease. The ability to search the genetic literature by symptoms (following the Human Phenotype Ontology, or HPO) helps clinicians narrow their diagnosis to the appropriate disease and treatment.
Genomenon’s Mastermind Genomic Search Engine is the world’s largest and most complete source of genomic evidence. Doctors and researchers use Mastermind to find the scientific evidence relevant to their patients’ DNA profile for diagnostic and therapeutic recommendations. The new release of Mastermind includes a more streamlined search function to help doctors more quickly scour through the millions of research articles to find cases that match their patients’ genomic profile and symptoms.
The ability to search by phenotype was the top feature requested by the children’s hospitals and genetic testing labs that use Mastermind for variant interpretation. A preview of the new version was well received at the American Society for Human Genetics annual meeting in October.
“We are world-renowned for the speed of our WGS (whole genome sequencing) interpretations, and using Mastermind has been a crucial step in accelerating our progress.” said Shareef Nahas, Senior Director of Clinical Operations for Rady Children’s Institute for Genomic Medicine. “This new functionality will be invaluable in our ongoing work to diagnose and treat babies with rare diseases.”
“The ability to search by phenotype gives Mastermind users even more power to discover which genes in a patient’s DNA are most likely to be relevant based on empirical data in the medical literature.” Said Dr. Mark Kiel, co-founder and Chief Science Officer of Genomenon.
Genomenon connects patient DNA with the billions of dollars spent on research to help doctors diagnose and cure cancer patients and babies with rare diseases. Our flagship product, the Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield and assure repeatability in reporting genetic testing results. We license our Mastermind Curated Genomic Datasets to pharmaceutical and bio-pharma companies to inform precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.