A superteam of seven pediatric hospitals with advanced genetic and genomic testing capabilities is reporting progress in their efforts to improve the diagnosis of rare childhood diseases and hasten treatment.
Minneapolis-based Children's Hospital joined the Sioux Falls-based Sanford Children's Genomic Medicine Consortium, because the sharing of genetic data and know-how is the fastest way to identify the origins of rare disorders, said Dr. Nancy Mendelsohn, a geneticist and chief of specialty pediatrics at Children's.
Seizure disorders in newborns often confound doctors, who then struggle to select the best medications and treatments, she said. "Finding the gene will tell you what's potentially causing the seizure and directs you to which anticonvulsant medication to use, which makes a huge difference. Instead of trying medication after medication after medication, we go right to the one that works."
Genetics involves the study of single genes and their influence, whereas genomics involves the interaction of multiple genes. Both fields have been viewed as "esoteric" and detached from clinical care, Mendelsohn said, but the consortium wants to make them mainstream components of pediatric care. Proof of their effectiveness could also increase insurance coverage of genetic and genomic testing.
Rady Children's Institute of Genomic Medicine in San Diego has developed rapid genomic sequencing technology that produces meaningful diagnostic information in days rather than weeks. Children's in Minneapolis is now using this technology to select personalized treatments for critically ill infants.
"If I know what's wrong with them," Mendelsohn said, "it directs their care."