Genomenon Provides Genomic Data on 450 Diseases to Advance Early Identification of Rare Disease in Newborns

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AI-driven genomic engine combined with expert curation provides actionable insights for rare disease diagnosis and treatment

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“Genomenon’s essential role in curating actionable genomic information and making it easily accessible...is critical to making newborn screening for a broad set of rare diseases a reality.” – Dr. Stephen Kingsmore, President & CEO, Rady Children’s Institute for Genomic Medicine

Genomenon, Inc., an AI-driven genomics company, announced more details on their plan to curate the genes associated with over 450 rare diseases for the purpose of newborn screening via next generation DNA sequencing. The program is the first initiative in Genomenon’s mission to curate the entire human genome and is an essential part of the BeginNGS™ newborn sequencing project led by Rady Children’s Institute for Genomic Medicine (RCIGM).

BeginNGS uses RCIGM’s rapid whole genome sequencing (rWGS®) to diagnose genetic diseases in infants just days after birth. Once patients are diagnosed, a virtual patient care guidance tool called Genome-to-Treatment (GTRx™) helps clinicians understand genetic conditions and access available treatment options. This type of program is a necessary step toward more comprehensive newborn screening, which currently only checks for an average of 50 diseases.

Mike Klein, CEO of Genomenon, explains the importance of this work: “A seismic shift is required to make newborn screening by next-generation sequencing (NGS) possible on a large scale. To make the tests both cost-effective and timely, the variant interpretation bottleneck needs to be removed from the equation. Rather than examining and interpreting each variant in real time against the evidence found in the medical literature, newborn sequencing requires every variant found in the medical literature to have been pre-curated and readily comparable to each newborn’s DNA.”

Genomenon is using its combination of AI-driven technology and expert scientific review to comprehensively assess and classify every variant seen across the 450+ rare diseases to be included in the BeginNGS panel. Each variant published in the medical literature, ClinVar, or disease-specific databases is reviewed, classified, and captured in a knowledgebase that can be used to identify variants that may be connected to a rare disease.

The knowledgebase allows for rapid assessment of the results of whole genome sequencing for newborns and identifies babies that are at risk for developing a rare disease. When identified early, many rare diseases can be treated preemptively to head-off disastrous consequences of later stage diagnosis. Genomenon’s goal is to expand the knowledgebase to cover all 7,000 rare diseases and make the data available to labs and testing centers wishing to expand their rare disease testing.

Genomenon is releasing the curated variant content as it is completed into the Mastermind® Genomic Search Engine, along with the supporting evidence used to classify each variant. Mastermind is used by over 2,000 laboratories and hospitals across the world, including leading international diagnostic providers like Australia’s Victorian Clinical Genetics Services (VCGS). Variant scientists, geneticists, and treating physicians rely on Mastermind to provide the most comprehensive view of the genomics of human disease to support their diagnosis and treatment decisions.

“Genomenon’s essential role in curating actionable genomic information and making it easily accessible from the Mastermind knowledgebase is critical to making newborn screening for a broad set of rare diseases a reality,” said Dr. Stephen Kingsmore, President & CEO, Rady Children’s Institute for Genomic Medicine.

“We’ve been working with Genomenon since the very early creation of the Mastermind Genomic Search Engine,” said A/Prof. Sebastian Lunke, Head of the Division of Genetics and Genomics at VCGS. “Their expansion into curating genes and variants is a welcome advancement toward realizing our vision for newborn screening by NGS for rare diseases.”

“We see a fully curated genome as a game-changer for precision medicine. The move to curating the genes around these 450+ rare treatable conditions is a natural extension and acceleration of the work Genomenon has been doing with our pharma and biopharma partners for the last 4 years,” said Mike Klein, CEO of Genomenon. “With that experience, we’ve built the engine and the team of expert curators that puts us on the path to realistically curating the entire genome over the next several years.”

Genomenon will host an expert-led webinar on their work to curate the genome on Wednesday, November 16 at 8:30am Eastern. Learn more and register.

About Genomenon

Genomenon is an AI-driven genomics company focused on making genomic information actionable for patients with rare genetic diseases and cancer. Keeping pace with the ever-evolving body of knowledge within genomics, Genomenon connects current research with patient DNA to accelerate clinical decision-making and pharmaceutical drug discovery.

For more information, visit Genomenon.com and follow us on LinkedIn and Twitter.

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Candace Chapman
Genomenon
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