Genomics of Newborns: The Value of Rapid Genetic Testing in the NICU
Download Transcript, Episode 4 (78 KB)
Josh Petrikin, MD
Length of Episode
Children’s Mercy Kansas City is one of four sites participating in Newborn Sequencing In Genomic Medicine and Public HealTh (NSIGHT), which is sponsored by the NIH along with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI).
NSIGHT is designed to explore the implications, challenges and opportunities associated with the possible use of genomic sequence information in the newborn period.
The emphasis of the Children’s Mercy NSIGHT project is gaining rapid access to genetic diagnostic information so that clinical care can be managed effectively for acutely ill neonates.
Early evidence of the feasibility of this approach was recently published by Children’s Mercy investigators in The Lancet Respiratory Medicine.
Conclusions from this study suggest that STAT-Seq, a rapid whole-genome sequencing test developed at Children’s Mercy, has the potential to alter clinical management or genetic counseling and provides a novel framework for implementing precision medicine in a level 4 NICU or PICU.
Josh Petrikin, MD is here to discuss Genomics of Newborns.
Smith, Michael and Petrikin, Josh E., "Genomics of Newborns: The Value of Rapid Genetic Testing in the NICU" (2015). Transformational Pediatrics Podcast. 4.