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Nicklaus Children's Hospital ‘Project Baby Manatee' | Advanced Genomics Cuts Diagnostic Delays & Costs

When a child is born with symptoms so rare that they confound doctors, or an older child develops an acute medical condition few health care professionals have treated before, it can cause needless suffering for the child and tremendous anxiety or depression for parents powerless to help.

If this “diagnostic odyssey” drags on for months, even years, it can cost the health care system untold millions of dollars.

A pilot genomic program from Nicklaus Children’s Hospital may hold the answers. Nicklaus Children’s, in collaboration with Rady Children’s Institute of Genomic Medicine, in 2018 launched “Project Baby Manatee.” It explored the health and cost benefits of whole genome sequencing (WGS) and rapid WGS (rWGS) in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology.

A 2020 report has proven its diagnostic and cost effectiveness. Entitled “Advanced Genomics for Critically Ill Children,” it studied the 50 children and families who had undergone rWGS through Project Baby Manatee. As a result of this project, 23 rare genetic conditions were diagnosed. The genetic findings led to changes in care for 19 patients, whether delivery of more appropriate treatment or even changes in diet or supplements. It also found that in some cases, patients were able to avoid unnecessary, invasive or high-risk procedures, like heart or liver transplants.

The study, made possible through Florida State Appropriation funds and donations, also found that rWGS reduced health care costs by eliminating unnecessary procedures and shortening the diagnostic odyssey. In all, more than $3.76 million was saved through rWGS, yielding a more than $2.88 million return on investment.

“As one of the first hospitals offering this level of personalized medicine, Project Baby Manatee has elevated the standard of care for testing of critically ill infants and children suffering unknown illnesses in the hospital’s intensive care units or outpatient clinics,” says Dr. Balagangadhar Totapally, MD, Director of the Division of Critical Care Medicine and Medical Director of the Pediatric Intensive Care Unit at Nicklaus Children’s Hospital.

Nicklaus Children’s has performed rWGS, which can return results in as little as 72 hours, on more than 100 patients to date.

WGS analyzes the entire human genome and its approximately 30,000 genes and identifies variants likely associated with a child’s condition. Scientists interpret the data, and Nicklaus Children’s multidisciplinary clinical team then determines treatments personalized to each patient.

The answers can change lives. Doctors needed to sedate a newborn to calm her debilitating seizures. Within two days of drawing blood, doctors diagnosed the child with a rare syndrome. Within hours of receiving the appropriate medication, the child was calmed. She soon was eating, and within days she was sent home.

Not all answers are what parents hope to hear. Countless X-rays, ultrasounds, blood draws and other diagnostic tests left doctors with no answers to a Miami infant’s condition. RWGS revealed a terminal disorder. His parents refused further treatment and took their son home to pass quietly among family.

“RWGS can provide answers, even where traditional genetic testing has failed, helping solve the ‘diagnostic odyssey,’” says Daria Salyakina, Ph.D., Director of Personalized Medicine and Health Outcomes Research with Nicklaus Children’s Hospital. “Even if the diagnosis is not positive, leaving parents to choose palliative care, it often gives an answer and empowers the family to make an informed decision.”

Compared to traditional genetic tests that can delay or even miss a diagnosis, rWGS has a 40% to 70% diagnostic yield. Its cost of less than $10,000 can save a payor $100,000 or more in unnecessary treatments or procedures. While not covered by most insurance, Nicklaus Children’s administrators hope the report will help move WGS beyond an “experimental” service to the standard of care.

“Genetic testing informs caregivers, provides patients and their families peace of mind, and once widely available, will save patients and payors millions - even billions - of dollars,” says Dr. Totapally. “It’s proven to be a vital diagnostic tool that is transforming modern health care.”

For more information about Project Baby Manatee, please contact daria.salyakina@Nicklaushealth.org.

For more information about Nicklaus Children’s Hospital, visit nicklauschildrens.org.