The National Center for Advancing Translational Sciences (NCATS) https://ncats.nih.gov within NIH, is supporting research for standard genetic tests to be added to newborn screening. The NCATS support is enabling a team from Research Triangle Park (RTI) along with three Clinical and Translational Science Awards (CTSA) to develop and implement an appropriate screening program to enhance newborn screening.
Don Bailey PhD, Director of the Center for Newborn Screening, Ethics, and Disability Studies at RTI is doing research on finding ways to include fragile x syndrome and other rare genetic diseases in standard newborn screenings.
Fragile x syndrome is caused by changes in part of the X chromosome. It is the most common cause of inherited intellectual disability in males and a significant cause of intellectual disability in females as well.
Although there is no cure for fragile x syndrome, early intervention can help children achieve their full potential. However, these therapies can’t begin until a child is diagnosed, usually at about age 3.
So far, efforts have been stalled because adding a new screening test to the set of the screenings already being done on newborns requires that an effective treatment be available for the specific disease being tested such as in the case of fragile x syndrome and other genetic diseases. This has created a catch-22 situation and a translational bottleneck.
Also, without evidence that a treatment is more effective when started earlier, a test for a genetic disease can’t be included in the standard newborn screening panel. However, the evidence can’t be collected without a screening program. Rare disorders pose an even greater challenge because of the difficulty in identifying enough cases to conduct studies especially before symptoms appear.
Efforts are underway to change that barrier through Early Check supported in part by the John Merck Fund, a research program where up to 120,000 North Carolina families each year will be offered voluntary screening for fragile x syndrome and other genetic conditions that as yet are not determined.
Early Check information will be available in obstetricians’ offices, birthing centers, and hospitals. Educational and informed consent materials will be accessible mainly through electronic media.
The researchers will arrange for Early Check testing on the blood samples already being collected from infants’ heels and allowed to dry on absorbent paper cards as part of the state’s standard new born screening.
This article appeared in the National Center for Advancing Translational Sciences (NCATS) https://ncats.nih.gov June 2017 Newsletter. To view the article, go to https://nih.gov/pubs/features/newborn-screening.