Rare Disease Q&A Part 3

Neena L. Champaigne, M.D., a clinical geneticist at the Medical University of South Carolina (MUSC), will be speaking at the Rare Disease Symposium to be held on February 29 at Segra Park in downtown Columbia from 9:30 am-2:00 pm (with a virtual option available as well). Champaigne provides short- and long-term follow-up for the South Carolina Newborn Screening Program, and her talk at the Symposium will focus on the program: which conditions are on the screening panel, how they are selected, and how the process works. Below, Champaigne answers questions about the importance of newborn screening and what mothers can expect.

Why is it important to screen all newborns for genetic conditions?

A: The newborn screening process is designed to detect infants who are at risk for rare conditions that would otherwise be missed if we didn't have a process in place. It's important to screen early because there are treatments available that can alter the outcome of their particular condition. We always say newborn screening saves lives by enabling early intervention and minimizing that health risk.

Can you tell us more about newborn screening? What should mothers expect? How will results be communicated?

A: Unfortunately, there's not a lot of awareness about newborn screening. We've been doing it for 60 years now, but it has flown under the radar.

I think moms are typically more focused on their health at the time of delivery, which is a very overwhelming time. However, many different things are happening for their infant at that time as well.

This screen is done at 24 hours of life and has three parts. The first part is a blood spot test that screens for over 50 different conditions that involve a wide variety of health issues. The two other parts are actually at the bedside. One is a hearing test and the other is a pulse oximeter that's used to look at the baby's oxygen level, which can also help to detect conditions.

The bedside test will allow the family and the mother to know the results immediately, and the blood spot test usually takes about 5-7 days to get results back through their primary care provider.

What happens if a newborn screens positive for one of the conditions on the screening panel?

A: It is important to remember that this is a screen, not a diagnostic test. So, follow-up is always needed to diagnose the condition. The primary care provider will partner with the appropriate specialist to coordinate that testing and any follow-up. 

Online resources, like babysfirsttest.org, are available to help parents to better understand the results of the screening.

What would be your takeaway to the rare disease community about the importance of genetics screening, specifically for newborns, children and their parents?

A: With four million babies born in the U.S. every year, about 13,000 babies will be identified as having a newborn screening condition. Families should know that even though it is daunting to get a phone call and be made aware that there could be a health concern with their infant, these are all treatable conditions. We're performing this screening because we have an intervention that is going to make a difference in their baby's life.

The Rare Disease Symposium is free and open to the public. Those interested in attending (either virtually or in-person) can register by visiting RarediseaseSC.org.