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SDS & Science Snapshots (2024-03-30)

In this issue: How are advances in genetic testing technology changing newborn screening and the course of the diagnostic odyssey in rare disease?

Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email or message us on Facebook! This is all for you!

BeginNGS: Newborn Genomic Sequencing to End the Diagnostic Odyssey

Two weeks ago, a new podcast episode of Once Upon a Gene was released highlighting BeginNGS, a ground-breaking initiative at Rady Children’s Institute for Genomic Medicine (RCIGM) that is helping to rewrite the story for infants with rare diseases (including Shwachman-Diamond Syndrome!).

We reached out to Dr. Jennifer Schleit, Laboratory Director at RCIGM, to bring you an exclusive summary on how advances in genetic testing technology are changing newborn screening methods and the course of the diagnostic odyssey in rare disease.

Here is what they shared:

Newborn screening (NBS) is a public health program aimed at testing babies for genetic conditions that are treatable, but may not be apparent at birth. Through early diagnosis, affected children can receive appropriate monitoring and treatments to reduce the negative impacts of these disorders and improve survival rates. (For more information about the economic impact of a delayed diagnosis, you can read this recent SDS & Science Snapshot). Currently, NBS programs are active in all 50 states and it is estimated that approximately 98% of babies born in the United States will be tested in the first two days of life. An interactive timeline showing the evolution of newborn screening methods is published on the BeginNGS website.

For more information about traditional newborn screening and what conditions are screened for across the United States, you can visit this website, Baby’s First Test.

How are advances in genetic testing technology changing newborn screening?

Current NBS programs primarily use laboratory methods such as mass spectrometry or enzyme activity to perform the screening in babies These methods have been successful, however they limit the number of disorders that can be tested, as only those disorders that can be detected with these testing methods can be included in current screening programs. Recent advances in genome sequencing, including reduced sequencing costs and faster sequencing time, have led to this technology being considered as a new testing method in NBS. Genome sequencing allows for more disorders to be tested simultaneously.

The SDS & Science Snapshot published a few weeks ago helps explain why genetic testing for SDS is important and how you can access it.

What is BeginNGS?

BeginNGS is a pilot project based out of Rady Children’s Institute for Genomic Medicine (RCIGM) to use genome sequencing to screen newborns for over 400 early onset, actionable disorders (including Shwachman-Diamond Syndrome!). RCIGM is a world leader in ultra-rapid and rapid genome testing, making it uniquely positioned to deliver NBS results in a timely manner. This project is currently based at Rady’s Children’s Hospital in San Diego, California. The BeginNGS team is actively planning to expand this trial to include additional health systems to enable participation from more geographic areas.

How are disorders selected or BeginNGS?

Candidate disorders were identified by reviewing clinical diagnostic testing of over 4000 critically ill newborns and children at RCIGM, by reviewing lists of expanded NBS disorder lists developed by other groups, and by evaluating publications which reported interventions for these disorders. Selected disorders were then evaluated by a team of medical and genetics professionals. Disorders included in BeginNGS met the following criteria:

  • They had acute, childhood admission that were likely to lead to hospital admission

  • A treatment was available for the disorder

  • It is a single-locus genetic disorder, inherited defects in a single gene can cause disease

  • There is a high likelihood of rapid disease progression without treatment

  • The disorder can be diagnosed by genome sequencing

Additional disorders could be added to BeginNGS as they are discovered and/or new treatments become available.


The team at SDS Alliance would like to extend a warm message of appreciation to Dr. Jennifer Schleit and the BeginNGS team for blazing trails in the newborn genomic sequencing space, shortening the diagnostic odyssey for individuals and families in the SDS community.

SDS Alliance looks forward to sharing the results of the BeginNGS initiative with the SDS community in future SDS & Science Snapshots.


For more detailed information about how Rady Children’s Institute for Genomic Medicine plans to change the landscape of newborn screening with whole genome sequencing, you can read their manuscript published in the American Journal of Medical Genetics.


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