The Children’s Hospital of Philadelphia is developing a data storage system connected to its newborn screening program to track the treatment of rare congenital diseases for research scientists to use.
It is planning a data storage repository as part of the “Long-Term Follow-Up Data Collection Tool” project. It will store long-term clinical records of patients who test positive for a disorder in the screening test, according to a press statement.
The records will be centralized and the results of follow-up tests, disease complications, medications and treatment records over the years will be collected there. Patient identities will not be listed to protect privacy.
The program for the Children’s Hospital’s Center for Biomedical Informatics received a $1.8 million federal grant over a three-year period as part of the five-year award from the Newborn Screening Translational Research Network to the American College of Medical Genetics.
“Currently, newborn screening programs are primarily limited to a short-term focus,” said project leader Dr. Peter S. White, director of the Center for Biomedical Informatics at CHOP. “The programs screen for disorders in which early intervention is possible. If we can broaden the data capture to follow up children over a longer term, we can tap the potential to develop new medical tests and interventions for diseases that are not currently detectable or treatable.”
The goal of the program is to provide a resource for researchers that will grow as more data is added over time to aid in their efforts to develop new and better tests and treatments for rare diseases. Many existing therapies for rare childhood diseases are limited and screening tests and treatments for others remain to be discovered for congenital disorders not currently included in newborn screening, the statement said.
[Photo from flickr user maile&justin]
