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Hudson the Hero: Genetic testing solves a medical mystery

Healthy Kids Magazine

Healthy Kids Magazine: At 13 months, seemingly out of nowhere, Hudson started having trouble breathing.

June 24, 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.

June 21, 2024

Super-speedy sequencing puts genomic diagnosis in the fast lane


NATURE: Streamlined workflows for DNA and RNA sequencing are helping clinicians to deliver prompt, targeted care to people in days — or even hours.

February 21, 2024


18 Ways Children’s Hospitals Are Pioneering Pediatric Treatments

Children’s Hospital Association

CHILDREN’S HOSPITAL ASSOCIATION: Children’s hospitals and health systems are leading the research and development of pediatric-specific treatments and technologies to ensure happier, healthier futures for kids.

October 26, 2023

Quick genetic test offers hope for sick, undiagnosed kids. But few insurers offer to pay.

CBS News / KFF Health News

CBS NEWS: Just 48 hours after her birth in a Seattle-area hospital in 2021, Layla Babayev was undergoing surgery for a bowel obstruction.

October 23, 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.

October 9, 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.

September 27, 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.

September 25, 2023

The Cost of Delayed Diagnosis in Rare Diseases: Study Finds Early Diagnosis Could Save $500,000 per Patient

Express Healthcare Management

EXPRESS HEALTHCARE MANAGEMENT: A recent study conducted by the EveryLife Foundation for Rare Diseases has shed light on the potential savings that can be achieved through early diagnosis of rare diseases. The study builds upon existing evidence from Project Baby Bear that supports the benefits of early screening and genetic sequencing for rare diseases. 

September 15, 2023

Early Rare Disease Diagnosis Could Save as Much as $500,000 per Patient

Inside Precision Medicine

INSIDE PRECISION MEDICINE: New research by the EveryLife Foundation for Rare Diseases has found that early rare disease diagnosis could save as much as $500,000 per patient.

September 15, 2023

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