At The Children’s Hospital of Philadelphia, a research group is developing tools to store long-term clinical data on children with conditions picked up in the screening tests. Awarded this past October, the Long-Term Follow-Up Data Collection Tool is part of an ongoing five-year award from the Newborn Screening Translational Research Network (NBSTRN) to the American College of Medical Genetics. The goal is to harness the power of numbers—using clinical data from many patients over years of their lives as a resource for researchers seeking new and better tests and treatments.

As biomedical knowledge and screening technology advance, more disorders have been added to those included in newborn screening, and the list will continue to grow.

“Currently, newborn screening programs are primarily limited to a short-term focus,” said project leader Peter S. White, MD, director of the Center for Biomedical Informatics (CBMi) at The Children’s Hospital of Philadelphia. “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.”

Over the years, more than 50 diseases have been added to the newborn screening list, including sickle cell disease and cystic fibrosis. If the initial screening flags a suspected disorder, health care providers order further tests to confirm or rule out the first result.

The data repository planned in this project will store long-term clinical records of patients who test positive for a disorder in the confirmatory test. Secure, centralized records will collect results of follow-up tests, disease complications, medications, and treatment records over the years. To protect confidentiality, the clinical information will not include patient identities but will provide invaluable clues to authorized researchers seeking to improve disease outcomes.

A centralized database will allow scientists to detect patterns in the data that typically would not be discernible among the small number of cases followed in any single center.

Source: Children’s Hospital of Philadelphia