FOR IMMEDIATE RELEASE
August 2, 2022 Ann Arbor, MI

Genomenon Partners with Rady Children’s Institute for Genomic Medicine on Newborn Screening by Next Generation Sequencing

Genomenon’s AI-driven genomic data provides comprehensive, actionable insight into treatable rare diseases

Genomenon^®Inc., an AI-driven genomics company, announced a partnership with Rady Children’s Institute for Genomic Medicine (RCIGM) that will help clinicians make better diagnosis and treatment decisions. Genomenon will fully curate all genes included in RCIGM’s recently announced BeginNGS™ (pronounced “beginnings”) newborn screening panel and deliver comprehensive data on disease-causing variants within these genes. The goal of BeginNGS is to improve infant patient outcomes by providing clinicians with powerful insight on both how these diseases form and how to treat them.

As one of the most successful public health programs in the United States, newborn screening tests 98 percent of the nearly 4 million babies born annually. However, of the hundreds of childhood genetic diseases with available treatments, a small portion—typically up to 50—are included in this screening. And adding a new disease to the screening protocol is labor-intensive, expensive, and slow. For each condition, the process takes close to five years.

BeginNGS uses RCIGM’s rapid whole genome sequencing (rWGS^®) to diagnose genetic diseases and identify potential treatment options for children while they are asymptomatic. 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.

As part of their mission to curate the entire human genome, Genomenon combines AI-powered genomics with expert review to curate all the variants that have been published in all the genes in the BeginNGS screening panel—genes tied to over 400 diseases. Genomenon then provides a comprehensive, actionable dataset for the variants that are found to cause disease. The ability to put this information in the hands of clinicians with speed and accuracy—and at an early stage in life—is an inspiring step forward in the mission to diagnose and treat life-threatening rare diseases before they cause irreversible damage.

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“The goal of BeginNGS and GTRx is to help ensure each baby is screened for treatable genetic conditions, and to help physicians provide effective treatment in a timely manner,” said Dr. Stephen Kingsmore, President & CEO, Rady Children’s Institute for Genomic Medicine. “Genomenon’s essential role in curating actionable genomic information and making it easily accessible to these professionals is helping transform that goal into a reality.”

“We are excited to announce our partnership with Rady Children’s Institute for Genomic Medicine to diagnose and treat critically ill babies with genetic diseases,” said Mike Klein, CEO of Genomenon. “By screening for over 400 treatable conditions and providing treatment guidelines to doctors and other clinicians before symptoms start, BeginNGS is creating life-saving opportunities for patients and their families at very early stages. Genomenon is honored to play a part in this important mission.”

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