Patients at Rady Children’s neonatal
intensive care unit, pediatric intensive care
unit or cardiovascular intensive care unit
with an undiagnosed medical condition of
suspected genetic origin must be referred
by their doctor for genetic testing.
A child must be enrolled in one of
Rady Children’s Institute for Genomic
Medicine’s research studies or an institute
partner study to receive genetic testing.
There is no fee charged for genetic
sequencing once a child is enrolled.
If your child is not a patient at an
institute research site, you can contact
his or her primary care doctor about
clinical genetic testing and research
studies in your area.
Sequencing can reveal that a child’s
illness is not genetically based. In those
cases, a diagnosis will not be made.
It’s also possible that genetic
sequencing could result in a diagnosis
that has no treatment. Palliative care
support is available in those cases.
of Genome Sequencing
at Rady Children’s
// Healthy Kids Magazine
case. The four-day turnaround for Sebastiana’s
diagnosis meant she was able to avoid weeks of
uncontrolled seizures that could have resulted
in brain damage, cerebral palsy or even death.
“I don’t know of any other patient who has ever
been diagnosed this quickly with this definitive
a diagnosis,” says Dr. Gold.
Today, rapid whole genome sequencing is
available to patients at Rady Children’s as part
of a research study led by Stephen Kingsmore,
MD, DSc, president and CEO of Rady Children’s
Institute for Genomic Medicine. He also holds
the Guinness World Record
for the fastest
genome sequencing leading to diagnosis: 26
hours. The institute’s Clinical Genome Center is
staffed by a team of experts including board-
certified medical geneticists, bioinformaticians,
software engineers, clinical laboratory scien-
tists and genetic counselors who channel their
expertise to provide physicians with a precise
diagnosis in as little as four to six days.
For now, this powerful testing is not covered
by medical insurance, but Dr. Kingsmore hopes
it will one day become the recognized standard
for diagnosing babies and children with rare
and complex diseases. “We are prototyping the
future of pediatric care,” he says. “Our hope is
that we can prove the clinical value of rapid
whole genome sequencing so that ultimately,
all children who need it can have access to this
Since July 2016, Rady Children’s Institute for
Genomic Medicine has performed rapid whole ge-
nome sequencing for more than 150 families, with
acutely ill children enrolled in its research studies.
The institute is currently focused on scaling up its
process and expanding to neonatal and pediatric
intensive care units across the country by forming
partnerships with other children’s hospitals.
Sebastiana’s parents understand that their
daughter is a pioneering patient. Having found
new strength, they gladly share her story in
hopes of encouraging other families who are
facing medical mysteries. Like Dr. Kingsmore,
their fondest wish is that one day the revolu-
tionary test she received will be available to all.
“We know we are blessed,” Dolores says. “She
is progressing, and every day that we don’t see
a seizure is a good day. We thank God and we
thank Dr. Kingsmore. We couldn’t have gone
through this without the Rady Children’s team.”