Genomenon Wins Best of Show at Bio-IT World Conference & Expo 2022

Mastermind’s Disease-Specific Curated Content Recognized for Providing Increased Access to Diagnosis, Clinical Trial, and Treatment Information

Genomenon^® Inc., an AI-driven genomics company, today announced that Bio-IT World has awarded them Best of Show for Disease-Specific Curated Content, now in the Mastermind^® Genomic Search Engine. Genomenon’s offering was one of 27 products considered for this prestigious award at last week’s Bio-IT World Conference & Expo in Boston.

Bio-IT World’s Best of Show awards program recognizes the best of the innovative product solutions for the life sciences industry. A panel of experts from academia, pharma, and biotech chose outstanding products based on their technical merit, functionality, innovation, and in-person presentations at the show. During the awards ceremony on May 4th, Mastermind’s Disease-Specific Curated Content was recognized as a product that was uniquely suited to solve an industry problem for clinical diagnostic laboratories and pharmaceutical companies, with a compelling return on investment.

Solving suspected rare disease cases involves performing DNA sequencing and analyzing the results—a process known as variant interpretation. Interpreting these results requires investigation of evidence in the medical and scientific literature. This is challenging, as traditional search tools are not designed to account for the many ways a disease, gene, or variant may be referred to, making identification of the relevant evidence labor-intensive and error-prone. Access to the most comprehensive source of evidence is essential since a single article can potentially change the way a variant is interpreted, the way a patient is diagnosed, the way a treatment is determined, and the way a life may be saved.

Genomenon addresses this challenge with a combination of artificial intelligence (AI) and expert curation to provide the most accurate interpretation of disease-causing variants. This information is now made available with Disease-Specific Curated Content. When Mastermind users search for a variant for which there is curated disease content, they are presented with information about that variant’s pathogenicity and links to trusted sources for additional resources—including information about open clinical trials. By providing this information, Disease-Specific Curated Content increases the chances of accurate diagnosis, treatment, and placement of patients in relevant clinical trials.

“We are honored to be recognized as Best of Show at Bio-IT this year,” said Mike Klein, CEO of Genomenon. “Disease-Specific Curated Content is a product that is uniquely suited to support the diagnosis and treatment of patients with rare diseases and cancer. This recognition is essential to forwarding our mission to make genomic information actionable by putting it at the fingertips of doctors and researchers.”

The Mastermind Genomic Search Engine is used by over 2,000 diagnostic labs and integrated into 18 clinical-grade decision support platforms across the globe and is part of the suite of genomic data services Genomenon provides to pharma, clinical, and biotech companies. By improving access to actionable genomic information, as well as highlighting available clinical trials and therapies, Disease-Specific Curated Content has the potential to not only increase clinician awareness of disease, but also provide hope for patients and their families.

Your Best Source of Genomic Evidence. Mastermind now includes over 8.5 million articles, 15 million variants, and over 3 million supplemental datasets. Not a Mastermind user yet? Make a free account here to join a global community of users who have access to the most comprehensive source of genomic evidence.