Genomenon CEO, Mike Klein, shares how Mastermind’s new Disease-Specific Curated Content is helping clinicians discover new treatment options for rare diseases.

Disease-Specific Curated Content Shortens the Diagnostic Odyssey

Genomenon has developed a new feature in the Mastermind Genomic Search Engine that enables faster and more accurate diagnosis of rare diseases. Disease-Specific Curated Content gives clinical laboratories, genetic counselors, and clinicians access to the comprehensive evidence they need to interpret genetic variants for rare diseases and promote awareness of available clinical trials and treatment options.

For the 30 million Americans afflicted with as many as 7,000 rare diseases[1], this curated content for variants leading to rare disease is a significant breakthrough that can shorten the time needed to reach an accurate diagnosis. Known as a “diagnostic odyssey”, this experience can consume years of valuable time getting to a diagnosis, where early identification and intervention is crucial for maximizing treatment effectiveness for rare diseases[2]. Mastermind’s Disease-Specific Curated Content can shorten the diagnostic odyssey through provision of evidence for every known variant associated with a given rare disease.

Genomenon’s AI-driven Mastermind Genomic Search Engine is currently used by thousands of genetic testing labs in over 140 countries. By integrating variant interpretations and their corresponding evidence into Mastermind, Genomenon’s curated content allows users to access relevant evidence much faster—and with significantly more sensitivity—than traditional methods.

Genomic Language Processing Turns Data into Options

Our AI-driven Genomic Language Processing (GLP) extracts and standardizes genomic and clinical information from the entirety of the medical literature, currently including over 8.5 million full-text articles and over 3 million supplemental datasets with genetic content. The genomic associations between genes, variants, diseases, phenotypes, and treatments that are identified with GLP are made available through Mastermind so a clinician can quickly find the scientific research around a specific variant in the context of a given gene or phenotype.

With Disease-Specific Curated Content, each variant and the corresponding evidence is correlated with additional third-party databases like ClinVar, and manually reviewed and interpreted by expert variant scientists according to clinical-grade standards. The curated variant interpretations for some of these rare diseases are now available in Mastermind to take the user beyond a presentation of literature search results to see all the expertly curated evidence needed to make a clinical diagnosis.

Genomenon has partnered with several pharmaceutical companies working on treatments for rare genetic conditions to present Disease-Specific Curated Content in Mastermind to help assure that rare disease patients get properly diagnosed and treated. These partners include:

  • Alexion for Wilson disease, complement-mediated thrombotic microangiopathy (CM-TMA), lysosomal acid lipase deficiency (LAL-D), and hypophosphatasia
  • Inozyme Pharma for ENPP1 deficiency
  • AstraZeneca for neurofibromatosis type 1 (NF1)

This breakthrough approach in curating every variant for a rare disease is so important that AstraZeneca included the collaboration with Genomenon in their 2021 Annual Report as a key strategy to enhance rare disease diagnosis:

“[We are] collaborating with Genomenon to use its AI-driven genomic technology to produce a complete ‘Genomic Landscape’ for certain rare diseases and enhance its Mastermind Genomic Search Engine used by genetic testing laboratories and medical centres worldwide.”

Our Mission: Driven by AI, Inspired by Patients

Our goal at Genomenon is to curate the entire human genome and provide clinical connections for every rare disease to maximize the number of patients that receive an accurate and timely diagnosis through genomic sequencing. The more comprehensively we understand the genetic drivers of rare disease, the faster we, as a community, can diagnose and find the appropriate treatments for these patients.

Connect with us to learn more about our rare disease mission, or to schedule a meeting with a member of the Genomenon team.

[1] “FAQs about Rare Diseases.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services,
[2] Michaels-Igbokwe, C., McInnes, B., MacDonald, K.V. et al. (Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada. Genet Med 23, 272–279 (2021).