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Whole-Genome Sequencing in the NICU: Two Studies Underway at UPMC

July 15, 2021

Of all babies born in the United States, 2-3% have a medical condition with a primary genetic component, and this group of infants represents an outsized proportion of admissions to neonatal intensive care units (NICUs). Traditionally, these babies faced a long diagnostic odyssey that required the recognition of a possible genetic disorder, appropriate first tier screening testing, and finally targeted diagnostic testing. This approach typically takes weeks or months, resulting in potentially unnecessary testing and procedures as well as delayed institution of disease specific therapies. 

New genetic testing techniques are now shortcutting this process and providing more rapid answers, often in days, allowing implementation of true precision medicine directed care. These technologies allow interrogation of the whole genome of the baby in single tests that allow for detection of mutations in single genes as well as the recognition of large missing or extra pieces of chromosomes that are damaging to health. 

Physicians at UPMC Children’s Hospital of Pittsburgh, ranked 9 in the nation by U.S. News & World Report, are currently involved in two projects that utilize whole genome sequencing (WGS) to test all known clinically important genes at the same time in sick babies. As part of a national collaborative study known as GEMINI, babies thought to be at high risk for genetic disease and in whom a specific diagnosis will change care are tested using a sequencing platform that can provide answers in as little as 48-72 hours. 

“The power to direct our care based on a specific diagnosis provides a measure of specificity that is often the difference between life and death,” notes Thomas Diacovo, MD, director of Neonatal Medicine for UPMC and local principal investigator for the study. 

A second study, designated PISCES, is specific to Pittsburgh and looks to explore the utility of the technology to identify genetic disease in babies with less specific syndrome.

“We know that findings of genetic conditions may not be obvious in infants in some cases, so we are exploring when to use WGS in less obvious situations as well as when the knowledge won’t directly affect therapeutic decision making,” says Gerard (Jerry) Vockley, MD, PhD, director of Genetic and Genomic Medicine for UPMC.

Diagnostic rates of nearly 50% have been achieved in the first study, while 25% of babies in the second study have had a known genetic disorder. The use of these technologies in other patients seen in the Genetic and Genomic Medicine clinic at UPMC Children’s have proven similarly effective, leading to faster diagnoses at lower cost in the majority of patients tested. In summary, these results point the direction to a new era of precision medicine through rapid and efficient genetic testing for all patients across the UPMC system regardless of age.

Dr. Diacovo will chair the Neonatal Sequencing and Pediatric Critical Care session at the Precision Medicine World Conference – East, taking place in Pittsburgh Sept. 23 – 24. Learn more and register today