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Why Newborn Screening Matters to Me: An Intern’s Perspective

  • Newborn screening matters because it provides an excellent example of how science can move from the lab to the public and save millions of lives.

    My name is Briana Mittleman, and I worked as an Expecting Health intern this summer at Genetic Alliance. A large part of my internship involved helping with Baby’s First Test projects. As a senior at Duke University, I spend my time as a Biology and Spanish double major, with a certificate in genome science and public policy.  One day, during my law and genomic sciences class, my professor started to talk about newborn screening. She explained state newborn screening programs, and our class discussed how and why certain conditions are added to state newborn screening panels. I spent a lot of time thinking about our discussion and called my mom that night to see what she remembered about my siblings and me being tested. To my surprise, my mom did not seem to remember my siblings or me receiving newborn screening. How could she not know or remember my first test? As I continued my studies at Duke University, I remained interested, but also puzzled, about newborn screening. It wasn’t until later that I came across the Baby’s First Test website and applied for an internship with the Expecting Health Program at Genetic Alliance.

    As an intern with the Expecting Health team this summer, I had an awesome experience learning more about newborn screening and meeting different people working to improve this very important public health program. One of my main interests coming into the internship was informed consent around the storage of dried blood spots. In my view, it is important that dried bloodspots are saved and used for research to create new therapeutics and improve diagnostics. The more samples or blood spots used, the more powerful and informative the research. Of course, this only scratches the surface of a very complex issue. Through this experience, I have learned that agreeing to participate in research should not be a ‘one time signature’ but instead, a dynamic communications process between participants and researchers.

    My interest in the patient perspective continued throughout my internship. I learned about the many different ways parents are able to engage with newborn screening at the national, state, and local levels in order to improve both awareness and reach of the newborn screening program. I had the opportunity to write articles about the topics I researched during the internship and create a story that follows the path of a drop of blood throughout the newborn screening process. By showing the blood drop’s journey, parents are able to understand how newborn screening works from the hospital to health labs and back to the parents.

    Until this summer, newborn screening was simply a topic I learned about in school and read about in academic journals. Now I have engaged with newborn screening at a deeper level and have interacted with parents who have happy and healthy children because of newborn screening. This experience has opened my eyes to why newborn screening matters.  It has showed me how many people are important on this path from science laboratories to public health programs, with long reaching positive effects across America.

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