Disease-Specific Curated Content, now available to everyone in the Mastermind Genomic Search Engine, presents comprehensive and expertly curated variant data to provide clinical diagnostic labs with certainty, consistency, and confidence. This blog will guide you through the key benefits of this new offering, including an informative video tutorial.
Rare diseases can be devastating to live with, and the diagnostic process can be complex and time-consuming. On average, a patient’s diagnostic journey can last seven years due to the lack of information on these conditions, which can result in missed intervention opportunities.
As part of Genomenon’s mission to ensure that no rare disease patient goes undiagnosed and untreated, Disease-Specific Curated Content has been integrated into Mastermind. This curated content empowers genetic testing labs with the data they need to diagnose patients suffering from rare diseases.
Specifically, we have used a combination of AI and expert curation to produce a complete Genomic Landscape for Wilson disease, a progressive rare genetic disorder characterized by excess copper stored in various body tissues which, if left untreated, can be deadly. The comprehensive genetic dataset for this disease is now available to clinical decision-makers through Mastermind.
So how does it work? When you search a variant for which there is curated content, Mastermind will let you know with a notification ribbon across the top of the screen.
You will see a provisional pathogenicity call (based on ACMG criteria) along with a link to a trusted source for additional information about the disease. From there, you’ll be prompted to explore further with the option to “View Interpretation,” which opens detailed variant data in a new window, including:
- ClinGen classification
- Population data
- ACMG calls with relevant literature citations
- In silico prediction models
- Data intrinsic to the gene
For ease in reporting, these results can be copied, exported, and/or printed by selecting the “Export to Report” button on the bottom left of the detail page.
To see a live example of how to navigate Disease-Specific Curated Content in Mastermind, check out the video tutorial below:
Mastermind is used by more than 1,000 genetic testing laboratories and medical centers across the globe, connecting patient DNA to relevant scientific research in order to make better diagnosis and treatment decisions. Disease-Specific Curated Content provides a deeper level of information, including whether certain genetic variations are known to be pathogenic for the disease.
And Wilson disease is just the beginning…soon you will see additional diseases, treatment, and trial information added to Mastermind. We hope this new resource will expedite variant review.
Stay tuned on Monday for the press release in collaboration with Alexion Pharmaceuticals.
The Mastermind Genomic Search Engine identifies every genomic association supported by the medical evidence, drawing informative connections between genes, variants, copy number variants (CNVs), diseases, phenotypes, therapies, and categorical keywords to inform both clinical care and drug discovery. By allowing users to find, connect, explore, and understand the links between genomic concepts of interest, Mastermind elevates the efficiency and accuracy of the clinical decision-making process.