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?

Upcoming BeginNGS Presentations & Events

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News

Related Publications

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer

Children. 2023; 10(1):106. https://doi.org/10.3390/children10010106 ABSTRACT The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation. Michigan’s Project Baby Deer (PBD) is a multi-center collaborative effort that sought to break down barriers to access by offering rWGS to critically ill neonatal and pediatric inpatients in Michigan. The clinical champion team used a standardized approach with inclusion and exclusion criteria, shared learning, and quality improvement evaluation of the project’s impact on the clinical outcomes and economics of inpatient rWGS.

Rapid genome sequencing identifies novel variants in complement factor I

Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006239. doi: 10.1101/mcs.a006239. Print 2022 Dec. ABSTRACT Complement factor I deficiency (CFID; OMIM #610984) is a rare immunodeficiency caused by deficiencies in the serine protease complement factor I (CFI). CFID is characterized by predisposition to severe pneumococcal infection, often in infancy. We report a previously healthy adolescent male who presented with respiratory failure secondary to pneumococcal pneumonia and severe systemic inflammatory response. Rapid genome sequencing (rGS) identified compound heterozygous variants in CFI in the proband, with a novel maternally inherited likely pathogenic variant, a single nucleotide deletion resulting in premature stop (c.1646del;

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

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