Congenital abnormalities and genetic disorders are a leading cause of infant mortality in the US. While diagnostic tools and protocols have continued to improve infant mortality for certain genetic disorders, infants needing intensive care still present a challenge. These infants can display a variety of non-specific symptoms, making it difficult to determine a diagnosis quickly, while other infants may elude any particular diagnosis at all.
UPMC Children's Hospital of Pittsburgh is taking part in several research projects aimed at reducing time to diagnosis through rapid genetic testing, assessing the cost-effectiveness of genetic testing advancements, and improving currently available genetic screening methods.
Jerry Vockley, MD, PhD