Case Studies

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Patient Stories

Fitz runs towards the camera

Fitz’s Story

Less than a week after Fitz was born, a newborn screening test revealed a rare genetic condition called Severe Combined Immunodeficiency (SCID), commonly known as “bubble boy disease.” Rapid whole genome sequencing pinpointed the exact type of SCID and helped guide life-saving treatment decisions.


Maverick’s Story

“We went from thinking our son was going to die, to getting a diagnosis and being so thankful for genomic sequencing and how it saved his life.” – Kara Coltrin, Maverick’s Mom

Sebastiana in 2017

Sebastiana’s Story

When traditional tests failed to identify the source of Sebastiana’s seizures, she was referred for genomic sequencing. The results saved her life.

Public Health Programs

Project Baby Bear logo

Project Baby Bear

Led by Rady Children’s and funded by the State of California, Project Baby Bear provided rapid Whole Genome Sequencing for infants hospitalized in intensive care while yielding life-changing benefits and saving $2.5 million in medical costs.

Graphic of a government building

Public Health Bills

Inspired by Project Baby Bear’s success, legislation has been introduced in Congress, and in several states, to make rapid Whole Genome Sequencing a covered benefit for babies enrolled in public health programs.

Graphic of a United States map

State Projects

Inspired by the success of Project Baby Bear, other states are following with their own programs to publicly fund rapid Whole Genome Sequencing for infants.

Clinical Partners

Exterior photo of Valley Children's Healthcare

Valley Children’s Healthcare

Valley Children’s Healthcare includes a 358 pediatric bed, general medical and surgical hospital located in Madera, California that is nationally ranked in seven pediatric specialties by U.S. News & World Report and a designated Magnet facility.

Spectrum Health Helen DeVos Children’s Hospital of Michigan

While they were looking to see what innovations were on the horizon in pediatric medicine, administrators at Spectrum Health Helen DeVos Children’s Hospital learned of Rady Children’s Institute for Genomic Medicine’s (RCIGM) advancements in rapid whole genome sequencing (rWGS®).

Children’s Hospital of Illinois

OSF HealthCare Children’s Hospital of Illinois

OSF HealthCare Children’s Hospital of Illinois in Peoria is the third largest pediatric hospital in Illinois. With 136 beds and 141 pediatric subspecialists, OSF Children’s Hospital cares for more children in Illinois than any hospital outside of Chicago.

One of the Childrens Hospital Colorado buildings

Children’s Hospital Colorado

Children’s Hospital Colorado is recognized as a top 10 pediatric hospital by US News & World Report. Serving the metro Denver area and the Rocky Mountain region, Children’s Colorado is home to a Level IV NICU.

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