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BeginNGS® Newborn Screening by Genome Sequencing Program Launches International Collaboration with Sidra Medicine in Qatar

BeginNGS to screen newborns for more than one thousand treatable genetic disorders Doha, Qatar —August 19, 2025– Rady Children’s Institute for Genomic Medicine (RCIGM®) today announced an agreement with Sidra Medicine, a world-class specialty healthcare organization for women, children and young people in the State of Qatar, to collaborate on implementing RCIGM’s genome-based newborn screening research program, BeginNGS (pronounced “beginnings”). Sidra Medicine joins the BeginNGS Consortium as the first international BeginNGS site.   Under the leadership of Dr. Ammira Akil, Director of the Metabolic and Mendelian Translational Research Program at Sidra Medicine, the collaboration with BeginNGS will advance the detection of ...

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Press ReleasesBeginNGSGeneticsnewborn genomics sequencingSpotlight

BeginNGS® Consortium Announces Alexion, AstraZeneca Rare Disease as its First Platinum Member

Company’s membership to support evolution of genome-informed newborn screening healthcare delivery system

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Media Coverage
Media CoverageDNA SequencingGenetic DiagnosisSpotlightStephen Kingsmore

Accelerating Genome Analysis to Screen Newborn Babies in Hours Instead of Days

Dr. Stephen F. Kingsmore, President and CEO of Rady Children’s Institute for Genomic Medicine, discusses how rapid whole genome sequencing helped diagnose a rare genetic condition that caused baby Dakota’s kidneys to fail—leading to lifesaving treatment and a path forward for her family.

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Media Coverage
Media CoverageAutism Spectrum DisorderClinical PsychiatryGenetic TestingPsychiatric GeneticsSpotlight

Long-Read Sequencing Pinpoints Genetic Basis for Psychiatric Diagnosis in Pediatric Case

Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego have successfully applied long-read genome sequencing to reveal the genetic underpinnings of complex psychiatric conditions in a 17-year-old patient, showcasing the potential of this advanced technology for clinical diagnosis and future gene therapies.

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Up to Speed

UPDATES FROM RCIGM
Updates from Rady Children's Institute for Genomic Medicine on rapid Whole Genome Sequencing and more.

Sponsored Ultra-rapid Whole Genome Sequencing Offered for Select Critically Ill Infants

Inozyme is seeking patients with disease-causing variants in the ENPP1 and/or ABCC6 genes for possible participation in a clinical trial.

Florida and Arizona Medicaid Now Cover Rapid Whole Genome Sequencing

Earlier this summer, Florida and Arizona started offering Medicaid coverage for rapid whole genome sequencing. Find out more about the latest policies.

Update on Validations for PHOX2B and DMPK

Rady Children’s Institute for Genomic Medicine is excited to announce that the current version of our rWGS/urWGS test is now validated to include identification of repeat expansions in the PHOX2B gene, associated with Congenital Central Hypoventilation Syndrome (CCHS), and in the DMPK gene, associated with Myotonic Dystrophy Type 1 (DM1).

RCIGM Prepared for Tropical Storm in San Diego

For the first time in more than 80 years, San Diego County is expecting a tropical storm to arrive. RCIGM is prepared with back up devices and resources to support any possible outages and downtimes to the best of our ability.

Welcome to Up to Speed, RCIGM’s Quick Update Blog

Here at Rady Children's Institute for Genomic Medicine®, we're known for our rapid turnaround on tests. Our aim with this blog is to provide you with quick, speedy updates on things relevant to our core work: clinical genomic services, lab tests, rWGS reimbursement, and more. Stay tuned for more.

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Ben Metcalf
bmetcalf@rchsd.org

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