RARE Daily

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

November 15, 2022

Rare Daily Staff

AI-driven genomics company Genomenon provided more details on their plan to curate the genes associated with more than 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.

“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,” said Mike Klein, CEO of Genomenon. “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 more than 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.

“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.

Photo: Mike Klein, CEO of Genomenon

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