RADY EXPANDS EFFORTS IN NEWBORN SCREENING FOR GENETIC DISORDERS

A new initiative from the Rady Children’s Institute for Genomic Medicine hopes to screen newborns for nearly 400 genetic conditions.

Working with a range of partners, the institute, part of Rady Children’s Hospital in San Diego, hopes to use rapid genetic sequencing of blood samples collected shortly after birth to identify diseases with genetic underpinnings before they begin producing symptoms, potentially providing time to take action.

The work builds on the institute’s existing work performing rapid genetic sequencing for babies hospitalized with unexplained symptoms, an effort that started in San Diego but that has since spread to about 80 hospitals nationwide, according to Dr. Stephen Kingsmore, the institute’s president and chief executive officer.

“We think we’ve got a system that works really well for critically ill babies; now we’re going to do it for the rest,” Kingsmore said.

Dubbed “BeginNGS,” the program was announced at the Bio International Convention under way in San Diego this week. It came one day after U.S. News and World Report announced its 2022 children’s hospital specialty rankings report which bestowed the best results to date for San Diego’s only hospital for kids.

Rady ranked second in the nation in orthopedics, eighth in neurology and neurosurgery, ninth in neonatal care and 10th in diabetes and endocrinology among 119 children’s hospitals included in this year’s writeup.

The rise in national standings occurs as the hospital’s genomic institute has been further cementing ties with researchers and clinicians across the United States.

Funded with a $120 million donation from local philanthropist Ernest and Evelyn Rady in 2014, the institute brought Kingsmore to San Diego from Kansas City in 2015, helping him to expand on rapid diagnosis work he first began pursuing in Missouri.

Using whole genome sequencing to massively expand newborn testing is no easy task. Using small dried blood spots collected from each baby’s heel shortly after birth, testing programs vary by state, and there is currently no consensus on which conditions should be included.

California, for example, tests for about 80 different genetic conditions while neighboring Arizona checks for just 29.

The differences between states, he said, can be stark with one family recently coming to San Diego from Arizona and discovering that their baby suffered from spinal muscular atrophy, a condition that is fatal if not treated shortly after birth. Arizona’s testing panel does not include the condition.

“That baby happened to be born on the wrong side of the state line, and didn’t get tested at birth,” he said.