NEWBORN GENOMIC SEQUENCING

to end the diagnostic odyssey

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 BeginNGS^TM.

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

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.

With BeginNGS, the combination of newborn rWGS^® and a new treatment guidance system — Genome-to-Treatment (GTRxTM) — helps ensure each baby is screened for treatable genetic conditions, and helps physicians provide effective treatment 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 as new treatments are approved.

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

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

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

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

Slide

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

Slide

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

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 treatments.

Ready to Learn More?

Media Coverage

June 16, 2022

GenomeWeb

Rady Children’s Institute for Genomic Medicine Partners With Inozyme Pharma on NGS Newborn Screening

Media Coverage

June 15, 2022

San Diego Union-Tribune

New Rady program will screen infants for genetic threats

Media Coverage

June 14, 2022

Inside Precision Medicine

Rady Children’s to Evaluate Scalability of Rapid WGS for 400 Known Genetic Diseases

View More

Better and Faster is Cheaper

Hum Mutat. 2022 Jun 20. doi: 10.1002/humu.24422. Online ahead of print. ABSTRACT The rapid pace of advancement in genomic sequencing technology has recently reached a new milestone, with a record-setting time to molecular diagnosis of a mere eight hours. The catalyst behind this achievement is the accumulation of evidence indicating that quicker results more often make an impact on patient care and lead to healthcare cost savings. Herein, we review the diagnostic and clinical utility of rapid whole genome and rapid whole exome sequencing, the associated reduction in healthcare costs, and the relationship between these outcome measures and time-to-diagnosis. This

The Role of Genome Sequencing in Neonatal Intensive Care Units

Annu Rev Genomics Hum Genet. 2022 Jun 8. doi: 10.1146/annurev-genom-120921-103442. Online ahead of print. ABSTRACT Genetic diseases disrupt the functionality of an infant’s genome during fetal-neonatal adaptation and represent a leading cause of neonatal and infant mortality in the United States. Due to disease acuity, gene locus and allelic heterogeneity, and overlapping and diverse clinical phenotypes, diagnostic genome sequencing in neonatal intensive care units has required the development of methods to shorten turnaround times and improve genomic interpretation. From 2012 to 2021, 31 clinical studies documented the diagnostic and clinical utility of first-tier rapid or ultrarapid whole-genome sequencing through cost-effective

Healthcare Professionals’ Attitudes toward Rapid Whole Genome Sequencing in Pediatric Acute Care

Children. 2022; 9(3):357. Abstract We aimed to characterize knowledge and attitudes about rapid whole genome sequencing (rWGS) implementation of a broad constituency of healthcare professionals at hospitals participating in a statewide initiative to implement rWGS for hospitalized neonates and children up to 18 years of age meeting clinical criteria for testing. We surveyed 307 healthcare professionals from eight hospitals about their knowledge and attitudes regarding rWGS. We examined survey internal reliability using exploratory factor analysis and associations between respondent characteristics and attitudes toward rWGS with linear regression. We thematically analyzed free-text responses. Views about rWGS implementation in respondents’ own setting

View More

Follow @Begin_NGS

Tweets by Begin_NGS

NEWBORN GENOMIC SEQUENCING

to end the diagnostic odyssey

Birth… the beginning of a family’s story.

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.

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

Sometimes the solution is as simple as a vitamin supplement.

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

What is BeginNGS?

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 as new treatments are approved.

Screening

Diagnostic Report

Rapid Treatment

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

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

Why Now?

Join Us

How It Will Work

Ready to Learn More?

Upcoming BeginNGS Presentations & Events

BeginNGS Celebration Reception (Boston)

World Orphan Drug Congress 2022

News

Related Publications

Follow @Begin_NGS

User Path Title

View All of Category Displayed Above

Read more about this groundbreaking work.

Questions about BeginNGS?

Follow Us

Please Send Me Info About Newborn Sequencing by WGS

Are you going toWorld Orphan Drug Congressin Boston?

Join Us at a Reception to Celebrate the Launch of

Rady Children’s Institute for Genomic Medicine is helping to rewrite the story for infants with rare diseases through BeginNGS^TM.

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

Are you going to
World Orphan Drug Congress
in Boston?

Join Us at a
Reception to Celebrate
the Launch of