Genomic Medicine

Advanced Genomics to End Diagnostic Delays

We are one of the first hospitals in the country to pilot whole genome sequencing (WGS) and rapid WGS (rWGS) as the new standards of care.

white framing element
white framing element

How are we using Advanced Genomics?

Nicklaus Children’s Hospital is one of the first hospitals in the country to pilot whole genome sequencing (WGS) as a new standard of care. Nicklaus Children’s is proud to partner with Rady Children’s Institute of Genomic Medicine to offer WGS to children where traditional genetic testing may not yield an answer. Many families have benefitted from the diagnostic power of WGS, which can often yield answers for some of our most medically complex cases.

How is WGS performed?

The human genome contains approximately 30,000 genes. WGS analyzes the entire genome and identifies variants that are more likely to be associated with a child’s condition. Scientists at Rady Children’s then interpret this data, comparing variants to those that have been identified in scientific literature that may explain the child’s illness. Our multi-disciplinary clinical team is able to use these clinical results to determine potential changes in medical treatment, offering a tailored care approach for each patient.

Who can benefit from WGS?

WGS is being used in two settings at Nicklaus Children’s. We are one of the few hospitals in the country to offer rapid WGS (rWGS). rWGS is an accelerated test, yielding clinical results in as little as 72 hours, depending on the case. This select test is offered in our three intensive care units (neonatal, pediatric, and cardiac) for critically ill children, a population for a fast answer may be crucial for medical management.

WGS is also offered in our outpatient genetics clinic for children that have received previous genetic testing, without definitive answers that may explain their condition. These are often described as being on a diagnostic odyssey. For these patients, WGS can provide long sought answers for a child and their family. Our videos below describe more how WGS is being used in different patient care settings at Nicklaus Children’s.

Research Projects Open for Enrollment

Rapid Genomic Sequencing for Acutely Ill Patients and the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data

Rapid Whole Genome Sequencing (rWGS) has proven to provide much faster diagnoses than traditional clinical testing, including clinical Whole Exome Sequencing (WES) and standard Whole Genome Sequencing (WGS). This collaborative study seeks to provide rWGS as a research test to additional pediatric hospitals nationwide to assist in the rapid diagnosis of acutely ill children suspected of a genetic condition. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, and health economics including potential cost-effectiveness of rWGS. This study will also serve as a biorepository for future research on samples and data generated from genomic sequencing.

Learn More

Ending the Diagnostic Odyssey:

Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children

The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of Whole Genome Sequencing (WGS) in establishing genetic diagnosis. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, health economics including potential cost-effectiveness of WGS and patient and provider experience with genomic medicine.

Learn More