Birth… the beginning of a family’s story.

But for families of babies born with a rare genetic disease, the story is one fraught with challenges on their journey to an accurate diagnosis and appropriate care.

Imagine if we could change the narrative for those families from the very start.

Rady Children’s Institute for Genomic Medicine is helping to rewrite the story for infants with rare diseases through BeginNGSTM

BeginNGS is a novel health care delivery system designed to screen newborns for genetic diseases — and connect their doctors with effective interventions.

Genetic diseases are chronic, progressive, and can be life-threatening. 

They may not appear until later in childhood; however, the effects may begin before symptoms manifest. The effects may be irreversible if not diagnosed and treated.

Sometimes the solution is as simple as a vitamin supplement.

Other times, the baby can receive cutting-edge gene therapy and grow up to be a typical healthy child, like Fitz Kettler, pictured here.

Fitz runs towards the camera

With BeginNGS, the combination of newborn rWGS® and a new treatment guidance system — Genome-to-Treatment (GTRxTM)helps ensure each baby is screened for genetic conditions for which interventions exist, and helps physicians provide effective interventions in a timely manner.

What is BeginNGS?

BeginNGS is an RCIGM-led pilot that uses rapid whole genome sequencing (rWGS) as a screening tool for newborns, to identify genetic conditions before infants get sick. The BeginNGS pilot is not about replacing the current biochemical newborn screening approach (for roughly 60 known conditions) – rather, it is a complement to the newborn screening processes and infrastructure that are already in place.

Technological advances in rapid whole genome sequencing (rWGS) have made it possible to return test results in just a few days at a lower cost.

As our understanding of genetic diseases grows, and the pace of therapeutic innovation accelerates, newborn screening by rWGS may provide a more dynamic way of expanding the number of conditions.

Since the whole genome is sequenced, the screening can be rapidly expanded to include new disorders as effective interventions become available.

magnifying glass over a DNA helix

Screening

Screening newborns for ~400 genetic diseases with known intervention options using rWGS

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Diagnostic Report

Diagnosing rare disease earlier to facilitate access to Rapid Precision Medicine™

Rapid Intervention

Employing Genome-to- Treatment (GTRx) to provide immediate intervention guidelines to clinicians

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Stephen Kingsmore
Rylee

By rewriting the beginning, we can help families end their diagnostic and therapeutic odysseys so they can fill their stories with hope.

— Stephen Kingsmore, MD, DSc
President & CEO, Rady Children's Institute for Genomic Medicine

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Rylee
Rylee

Early diagnosis of rare disease patients will open the door to ongoing monitoring of symptoms and gathering of critical natural history data

— Charlene Son Rigby
CEO, Rare-X

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Why Now?

There are over 30 million rare disease patients in the United States and over 5,000 rare disease clinical trials underway. Ending the diagnostic and therapeutic odyssey is finally within our grasp. Without disruptive progress, precision medicine at scale isn’t possible. BeginNGS will help us identify rare disease patients earlier, increase clinical trial enrollment and rapidly progress rare disease treatment.

Join Us

Interested in partnering with us or learning more about the project?

How It Will Work

  • This pilot includes birthing hospitals throughout the U.S. and abroad.

  • Blood-spot samples will be collected at the time of birth and sent to the lab where WGS will be performed.

  • Genomic analysis and interpretation will be performed for ~400 early onset actionable genetic conditions.

  • When a positive screening result is detected, a confirmatory diagnostic test will be completed before a result is returned to the ordering physician.

  • Additionally, physicians will be provided with guidance on appropriate medical management, including all available interventions.

Ready to Learn More?

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News

Related Publications

Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics

Mol Aspects Med. 2022 Nov 18:101153. doi: 10.1016/j.mam.2022.101153. Online ahead of print. ABSTRACT Precision medicine strives for highly individualized treatments for disease under the notion that each individual’s unique genetic makeup and environmental exposures imprints upon them not only a disposition to illness, but also an optimal therapeutic approach. In the realm of rare disorders, genetic predisposition is often the predominant mechanism driving disease presentation. For such, mostly, monogenic disorders, a causal gene to phenotype association is likely. As a result, it becomes important to query the patient’s genome for the presence of pathogenic variations that are likely to cause

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline

J Pers Med. 2022 Nov 18;12(11):1924. doi: 10.3390/jpm12111924. ABSTRACT Rapid genome sequencing in critically ill infants is increasingly identified as a crucial test for providing targeted and informed patient care. We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome sequencing with parental samples in an effort to establish a prompt diagnosis. Our pilot study resulted in a 37.5% diagnostic rate by whole genome sequencing alone and an overall 50% diagnostic rate for the cohort. We describe how the diagnoses led to identification of additional affected relatives and a change in management, the

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding

Cold Spring Harb Mol Case Stud. 2022 Oct 28;8(6):a006169. doi: 10.1101/mcs.a006169. Print 2022 Oct. ABSTRACT We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping multiple genetic models. The patients presented with respiratory distress, congenital heart defects, hypotonia, dysmorphology, and unique findings, including corneal clouding and ascites. Both siblings had compound heterozygous damaging variants, c.11420G > C (p.Cys3807Ser) and c.12407T > G (p.Val4136Gly) in LRP1, in which segregation analysis helped dismiss additional variants of interest. LRP1 analysis using multiple human/mouse data sets reveals a correlation to patient phenotypes

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