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Genomic Medicine Initiatives Aid Undiagnosed Pediatric Patients

A clinical research collaborative has launched two genomic medicine initiatives that will more effectively diagnose and treat children with unexplained illnesses.

Genomic medicine initiatives will help undiagnosed pediatric patients

Source: Thinkstock

By Jessica Kent

- Three pediatric medical centers have introduced genomic medicine initiatives aimed at accelerating diagnoses and treatment for children with unexplained illnesses.

Nicklaus Children’s Hospital of Miami, in collaboration with Rady Children’s Institute for Genomic Medicine and Sanford Health, will offer whole genome sequencing tests to patients in an effort to enhance scientific understanding of rare genetic diseases in children.

"We are thrilled to be at the leading edge of genomic medicine in pediatrics,” said Jennifer McCafferty, PhD, director of Nicklaus Children’s Research Institute and Personalized Medicine Initiative.

"Genomic medicine offers hope to parents of sick children who have not yet received a diagnosis."

The collaboration will offer whole genome sequencing to children suffering from both acute and chronic illnesses.  

Patients with acute, undetermined illnesses who are in one of Nicklaus Children’s three intensive care units (neonatal, pediatric, and cardiac) will be eligible for rapid whole genome sequencing, a relatively new test that can map a whole genome in less than a week.

This test will provide acutely ill patients with diagnoses much faster than traditional genome sequencing and will be vital for newborns in need of life-saving clinical care.  

In children with chronic undiagnosed medical conditions, whole genome sequencing will provide long-sought answers for patients and families. These children have typically visited multiple specialists and undergone countless tests in search of a definitive diagnosis.

Nicklaus Children’s will send patient blood samples to Rady Children’s Institute for Genomic Medicine in San Diego, where experts will conduct whole genome sequencing, bioinformatics analysis, and initial clinical interpretation. Nicklaus Children’s will use the results to care for children in Miami.

Since July 2016, Rady Children’s Institute for Genomic Medicine has performed rapid whole genome sequencing for more than 431 acutely ill children enrolled in its research studies.

As of April 9, 2018, approximately one-third of patients who had undergone sequence testing have received a genomic diagnosis. Of those diagnosed patients, 63 percent have benefitted from an immediate change in clinical care.

Both Nicklaus Children’s Hospital and Rady Children’s Institute are part of the Sanford Children’s Genomic Medicine Consortium, which aims to advance children’s medicine through the integration of genomics into pediatric care.

In September of 2016, the Sanford Children’s Genomic Medicine Consortium united precision medicine researchers, genomics leaders, and big data analysts from six of the nation’s most lauded pediatric medical centers in an effort to enhance personalized medicine.

The collaborative developed genomics strategies to advance pediatric care and established a pediatric genomic workforce to improve clinical outcomes for children.

This new collaboration among Nicklaus Children’s Hospital, Rady Children’s Institute for Genomic Medicine, and Sanford Health will work to accomplish similar goals.

"The information we receive from whole genome sequencing is helping medical teams make treatment decisions and providing hope to these children and families," said Stephen Kingsmore, MD, DSc, president and CEO of Rady Children's Institute for Genomic Medicine.

"This is the beginning of our long-term vision to save babies with rare, life-threatening diseases by making genomic testing available to NICUs, PICUs and CICUs nationwide."

The organizations’ whole genome sequencing efforts are currently in the research phase and not yet offered as a standard of care. Physicians at Nicklaus Children’s can refer potential candidates to the research team for possible enrollment in these initiatives.


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