(WGHP) — As the director of the North Carolina State Laboratory of Public Health, Scott Shone wants to stay ahead of trouble.
“Public health is about intervening before someone gets sick because once someone gets sick … you have to treat that individual, and it is a lot cheaper and effective to address a population,” Shone said. “There are enormous advances in our ability to treat newborns for rare genetic conditions. So bringing those things together offers a very different future for kids with rare diseases where we can prevent or dramatically change their symptoms so that they have a much healthier life.”
North Carolina’s latest program to do just that is called Early Check. By law, all newborns have a droplet of blood taken from them within their first 48 hours to check for certain illnesses. Early Check is an additional program parents can opt into which takes that same blood droplet and tests for much more rare conditions.
“Early Check the research program is a consent-based program where moms have to consent for the dried blood spot – the same spot we use for mandated screening – to give (the non-profit organization) RTI access to that spot to do testing for conditions that have yet to be proven. We’re looking to gather data so that one day those conditions might be part of the public health pane,” Shone said. “The expansion of the Early Check program into genetic testing is answering two main areas of questions. One is … can a laboratory actually put up with the volume of sequencing needed for the volume of babies that are born? And the second is the bioethical piece of this. Is the information generated? How is it used? How does it ensure that the outcome for that child is improved and that family is improved?”
Holly Peay is the Director of Early Check, RTI, and someone who has seen how it works.
“For example, one of the conditions we have is a kind of cancer that can affect the eyes, and we know if we follow children, and we do very specific kinds of tests on their eyes … we can help prevent them losing their vision,” Peay said. “We’re also screening for a much more common disorder called type 1 diabetes, which is a disorder of childhood that many people are familiar with, and that’s a condition where we don’t give a ‘yes’ or ‘no’ answer. Instead, we use the power of genes to tell people whether their child is more likely to get type one diabetes later. And we can do education for them and some additional later screening, and that can actually have a huge impact on whether children get severe symptoms and what their outcomes are for a more common disorder.”
Early Check is done at no cost to the families who choose to take advantage of it. See more on the program in this edition of The Buckley Report.