Curated Variants for ACMG Secondary Findings Genes now in Mastermind
ANN ARBOR, Mich., Oct. 3, 2024 /PRNewswire-PRWeb/ -- Genomenon, Inc., a leading genomic intelligence company, announced the curation of evidence for the American College of Medical Genetics and Genomics (ACMG) secondary findings genes within its Mastermind software platform. This significant enhancement enables laboratories to rapidly interpret medically valuable genetic variants that may be unrelated to the primary test purpose.
As the number of labs analyzing whole genome and whole exome tests rises, more variants appear on tests that may be outside the initial focus for the health care provider and patient. The ACMG secondary findings represent genetic variants that may have significant medical implications, even if unrelated to the reason for the initial test. Reporting these findings is highly recommended by ACMG and can be crucial for patients. Variants in these genes can predispose individuals to severe medical conditions, often without initial symptoms. Early detection through testing enables timely diagnosis, empowering healthcare providers to initiate preventative screenings or treatments that can mitigate disease progression and alleviate severe symptoms.
"By integrating curated variants for ACMG secondary findings genes into Mastermind, we're bridging the gap between genetic testing and actionable patient care through genetic risk factors," said Mike Klein, CEO of Genomenon. "Mastermind simplifies variant interpretation and reporting for whole genome sequencing, reduces analysis time and costs, and enhances _compliance with regulatory requirements. This enables laboratories to focus on providing high-quality patient care through timely and informed decision-making."
To curate the ACMG secondary findings, Genomenon reviews all variant details available in the literature, including most disease-causing variants. This approach based on functional studies differs from other available databases, which can over-represent benign variants, including those reported in labs.
The curated data for ACMG secondary findings is available in the Mastermind Professional Edition today.
About Genomenon
Genomenon is a leading genomic intelligence company transforming patient care by uncovering the genomic drivers of genetic disease and cancer. By combining the power of AI built on the world's premier genomic data set with genomic expertise, the company simplifies complex genetic data into actionable insights. Genomenon's integrated software, data, and services solutions empower clients with advanced patient diagnosis and precision medicine development. Please visit http://www.genomenon.com for more information.
Media Contact
Colleen McMillen, Genomenon, 9173449360, [email protected], https://www.genomenon.com/
SOURCE Genomenon
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