Last month’s World Orphan Drug Congress brought together more than 250 insightful speakers, including a key leader from Rady Children’s Hospital who focused on the new new BeginNGS™ (pronounced “beginnings”) program, based at the Rady Children’s Institute for Genomic Medicine (RCIGM).

BeginNGS is a novel health care delivery system designed to screen newborns for genetic diseases and connect their doctors with effective treatment options. It stands to improve infant patient outcomes by providing clinicians with powerful insight on how these diseases form, and how to treat them.

We are proud to share that Genomenon is a key partner in this bold new program.

As part of our mission to curate the entire human genome, Genomenon will combine AI-powered genomic data indexing and expert manual review to fully curate all the genes in the BeginNGS screening panel—genes tied to over 400 diseases—and produce a comprehensive, actionable dataset of variants that cause these diseases accompanied by annotated evidence to support these determinations. All of this data will be available in the Mastermind Genomic Search Engine in addition to being the data driving the panel.

The ability to put this information in the hands of clinicians with speed and accuracy at an early stage in a patient’s life is an inspiring step forward in the mission to end what is on average a 7-year diagnostic odyssey for rare disease patients and their families.

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, only 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. Incorporating genome sequencing into the screening process promises to increase the number of diseases that can be identified early and to facilitate incorporation of new diseases onto screening panels by streamlining data collection and analysis.

As part of the BeginNGS program, RCIGM employs rapid whole genome sequencing (rWGS®) to produce a patient’s genetic variant data and then uses the curated data from Genomenon to identify genetic variants associated with disease. Once patients are identified and diagnosis is confirmed, a virtual patient care guidance tool called Genome-to-Treatment (GTRx™) helps clinicians understand these genetic conditions and provides guidance for follow-up care including available treatment options.

Genomenon’s essential role in curating actionable genomic information and making it easily accessible to these professionals is helping transform diagnosis of rare disease by allowing BeginNGS to create life-saving opportunities for patients and their families at very early stages. Genomenon is honored to play a part in this important mission.

Mastermind is the powerful solution behind this initiative, and is providing critical rare disease insights to more than 2,000 diagnostic labs. Create your account today to access the most comprehensive source of genomic evidence, and start with a free trial of Professional Edition.