Study expands standard newborn screening to test for two rare conditions: fragile x syndrome and spinal muscular atrophy.
Wake Forest Baptist Medical Center has partnered with teams from RTI, the NC State Laboratory of Public Health, UNC Chapel Hill, and Duke University to make Early Check, a free screening study, available for newborn babies in North Carolina.
Early Check identifies children with rare health conditions before the onset of symptoms in order to test the possible benefits of early treatments and interventions. It is a research study that uses the same newborn blood spots that the State Laboratory uses to test all newborns for a variety of health conditions that can be treated before babies develop symptoms. The difference is that treatments for the conditions screened for in Early Check are still being developed. This is why adding Early Check screening is voluntary---new parents can choose to enroll their babies if they wish, and can do so using any smartphone or computer.
The WFBMC Early Check team focuses on the ethical aspects of this new type of study. Nancy King, JD, who serves as Early Check Lead Investigator for the WFBMC team, says “We have worked hard to make all information clear and accessible so that parents will know that Early Check is a research study; what it includes; what we know, don’t know, and hope to learn with their help; and that they can say no, or leave the study anytime.”
- October 15, 2018
- Winston-Salem Journal, November 2018
- The News & Observer, October 2018