diagnostic odyssey Archives

Media Coverage
June 24, 2024

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.

Media Coverage
September 15, 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.

Media Coverage
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.

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.

Media Coverage
August 3, 2023

Rady’s newborn screening program prepares to expand

San Diego Union-Tribune

SAN DIEGO UNION-TRIBUNE: Rady Children’s hospital has set its sights on expanding the use of a screening test that it says can detect 411 genetic disorders in newborns.

Media Coverage
July 26, 2023

Too many treatable diseases go unnoticed. This could change that.

Washington Post

WASHINGTON POST: DNA sequencing to diagnose newborns could end up saving much more money — especially if done for babies who are sick. In a study funded by the state of California called Project Baby Bear, researcher Stephen Kingsmore found that sequencing the whole genomes of 178 infants hospitalized in intensive care saved $2.5 million.

Press Releases
July 25, 2023

Rady Children’s Institute for Genomic Medicine Co-develops Fast Genetic Variant Testing with In Vivo BioSystems

This study will help medical teams determine the pathogenicity of a variant in the STXBP1 gene – which can cause severe seizures, intellectual disability, and developmental delays -- to swiftly end the diagnostic odyssey for patients and their families.

Press Releases
July 10, 2023

Rady Children’s Institute for Genomic Medicine Launches Phase 2 of BeginNGS Program for Identifying Treatable Genetic Diseases for Newborns

During its first year, the BeginNGS newborn whole genome sequencing program welcomed 22 founding members, completed its first phase, and launched next-phase screening for 31 additional genetic disorders.

Media Coverage
April 6, 2023

How AI is Transforming Rare Disease Diagnosis

HIT Consultant

HITConsultant.net: Chris Tackaberry, founder and CEO of Clinithink, reviews the role of AI in transforming the diagnostic odyssey, focusing on RCIGM's work with Clinical Natural Language Processing.

Media Coverage
February 28, 2023

It takes an average of 8 years for a rare disease patient to get diagnosed. Why is it so hard to get life-altering genetic testing in the U.S.?

Fortune

Fortune: No one wants to find themselves sick or in need of a medical diagnosis. But there are those out there who already are—and are desperately seeking answers.

News Center Archives

About us

Tag: diagnostic odyssey

Hudson the Hero: Genetic testing solves a medical mystery

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

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

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

Rady’s newborn screening program prepares to expand

Too many treatable diseases go unnoticed. This could change that.

Rady Children’s Institute for Genomic Medicine Co-develops Fast Genetic Variant Testing with In Vivo BioSystems

Rady Children’s Institute for Genomic Medicine Launches Phase 2 of BeginNGS Program for Identifying Treatable Genetic Diseases for Newborns

How AI is Transforming Rare Disease Diagnosis

It takes an average of 8 years for a rare disease patient to get diagnosed. Why is it so hard to get life-altering genetic testing in the U.S.?

Partner With Us

Order a Test

About Us

STAY UP TO DATE

Follow Us

Contact Us About BeginNGS