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 underway in San Diego this week. It came one day after US 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 write up.
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 expanding 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 just Arizona checks 29.
The differences between states, he said, can be stark with one family recently coming to San Diego from Arizona and 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.
A key deciding factor that helps decide whether states decide to include a condition is whether or not a therapy exists for a given condition.
Though there are thought to be more than 7,000 human diseases and conditions with genetic causes, relatively few have proven treatments, though researchers are continually discovering new methods as they treat individual patients.
It is difficult for any busy physician to sit through medical literature and discover what others have found might work for a specific rare genetic condition.
Having used genetics to make diagnoses for a decade now, Kingsmore said that he and others in this highly-specialized sliver of medical practice and research have developed tools to help determine which treatments might work for each condition, and have developed a list of about 400 Where the evidence of an effective treatment is strong enough to suggest that treatment of kids before they develop symptoms is warranted.
A group of medical geneticists, he said, have been working together for nearly three years now to determine which conditions could reasonably be included on the list of genetic conditions that could reasonably be screened for after birth, and a formal paper on their finds is expected to be published in a peer-reviewed medical journal soon.
From there, he said, the plan is to begin a clinical trial led by Rady in San Diego and by a health provider connected with the University of Tennessee in Memphis, with additional sites expected to be added a far away as Greece.
Proving that newborn screening can be done for such a broad range of conditions, he said, requires a particularly-broad differences sample, given that genetic will affect people of different races and ethnicities differently.
“In order for this to really be proven, we need each ethnic group and each racial group to be well covered,” Kingsmore said. “If you just assume that we’re all the same, then you’re not going to have a test that works well across diverse populations.”
Though his goal is to eventually make such genetic testing routine for all of America’s 3.7 million newborns each year, additional work will be necessary to determine if doing so will ever be cost effective. While new developments are pushing the cost of sequencing ever lower — a recent new announcement claims that the cost could soon fall as low as $100 — the cost of treatment for rare diseases and disorders must also be factored in.
The initiative lists a broad range of partners including Alexion, the rare disease arm of biotechnology giant AstraZeneca, Oakland’s Fabric Genomics, San Diego’s Illumina Inc., Genomemon in Michigan and TileDB Inc. in Massachusetts.