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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.

The

Basics

of Genome Sequencing

at Rady Children’s

Winter 2018

// Healthy Kids Magazine

27

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

TM

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

life-changing technology.”

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.”