genomic newborn screening Archives

Media Coverage
March 17, 2025

BeginNGS Program Seeks to Improve Pediatric Rare Disease Dx, Treatment via Rapid NGS, Data Curation

GenomeWeb

In a paper published this week in the American Journal of Human Genetics, collaborators led by the Rady Children's Institute for Genomic Medicine (RCIGM) formally spelled out plans to improve detection and treatment of rare hereditary pediatric diseases through rapid whole-genome sequencing (rWGS).

Press Releases
December 5, 2024

BeginNGS® Newborn Screening by Genome Sequencing Shown to be Safe and Effective in Two Clinical Studies

Two studies published in the American Journal of Human Genetics show the potential for genomic screening in newborns to address high rates of infant hospitalization and mortality in the United States and reported a 97 percent reduction in false positives based on a method derived from human evolution.

Media Coverage
June 21, 2024

Pioneering studies show promise in sequencing a baby’s genome at birth

Washington Post

Washington Post: Early research study results show that genome sequencing is catching conditions not found through traditional newborn screening.

Media Coverage
October 9, 2023

International Newborn Genome Sequencing Projects Discuss Differences, Future Goals

Precision Medicine Online

PRECISION MEDICINE ONLINE: Newborn genome sequencing projects focusing on seemingly healthy babies shortly after birth are forging ahead around the world, but their approaches differ according to each country's population structure, disease prevalence, healthcare system, treatment availability, and more.

Media Coverage
September 27, 2023

Rare Community Profiles: Inozyme’s Catherine Nester Discusses Newborn Screening and the GACI Diagnostic Delay

Patient Worthy

PATIENT WORTHY: Catherine Nester spoke with Patient Worthy about the importance of newborn screening, the challenges of diagnostic delays, and how Inozyme is working to transform the treatment landscape for ENPP1 Deficiency and ABCC6 Deficiency, also known as Generalized Arterial Calcification of Infancy (GACI) types 1 and 2, respectively.

Media Coverage
September 25, 2023

Why Pharma Should Pay Attention to – and Be Part of – Rapid Whole Genome Sequencing Advancement

Fierce Pharma

FIERCE PHARMA: In part two of this series, we turn our attention to rWGS and the pharmaceutical industry – specifically, the great potential of rWGS in drug development and patient access, and the important role pharma plays in advancing this promising technology.

Media Coverage
September 12, 2023

How Rapid Whole Genome Sequencing Can Change the Rare Disease Game for Every Newborn

FIERCE Healthcare

FIERCE Healthcare: The rare disease journey can be long and difficult. rWGS could offer newborns a greater chance of successful diagnosis and intervention at birth.

Media Coverage
September 8, 2023

Dr Stephen Kingsmore Describes the Participants of the BeginNGS Consortium

AJMCtv

Dr. Stephen Kingsmore explains how the BeginNGS consortium members help the project to continually evolve.

Media Coverage
August 29, 2023

Dr. Stephen Kingsmore Highlights Disparities Seen in Genetic Testing

AJMCtv

AJMCtv: Stephen Kingsmore discusses the types of disparities seen in genetic testing as the BeginNGS phase 2 clinical trial is underway.

Media Coverage
August 14, 2023

Interview with Patricio A. Frias, President and CEO of Rady Children’s Hospital – San Diego

Becker's Healthcare Podcast

Becker's Healthcare Podcast: RCHSD President and CEO Patricio A. Frias shares the exciting innovative research being conducted at Rady Children's Institute for Genomic Medicine.

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Tag: genomic newborn screening

BeginNGS Program Seeks to Improve Pediatric Rare Disease Dx, Treatment via Rapid NGS, Data Curation

BeginNGS® Newborn Screening by Genome Sequencing Shown to be Safe and Effective in Two Clinical Studies

Pioneering studies show promise in sequencing a baby’s genome at birth

International Newborn Genome Sequencing Projects Discuss Differences, Future Goals

Rare Community Profiles: Inozyme’s Catherine Nester Discusses Newborn Screening and the GACI Diagnostic Delay

Why Pharma Should Pay Attention to – and Be Part of – Rapid Whole Genome Sequencing Advancement

How Rapid Whole Genome Sequencing Can Change the Rare Disease Game for Every Newborn

Dr Stephen Kingsmore Describes the Participants of the BeginNGS Consortium

Dr. Stephen Kingsmore Highlights Disparities Seen in Genetic Testing

Interview with Patricio A. Frias, President and CEO of Rady Children’s Hospital – San Diego

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