GENETIC ALLIANCE BY BRIANA MITTLEMAN
As Newborn Screening Awareness Month kicks off in September, it is important we reflect on the many advocates, communities, healthcare professionals, and state programs that work everyday to improve this public health program. Yet, in September, we honor one of the many champions of change in newborn screening: parents.
Newborn screening reaches nearly all of the four million babies born in the United States, with thousands of babies receiving newborn screening each day. Newborn screening involves a heal prick
to collect a small blood sample, a hearing screen, and a pulse oximetry test to check the amount of oxygen in the baby’s blood. These simple tests are performed 24 to 48 hours after birth and are used to identify conditions that can affect a child’s long-term health. By ensuring that all babies are screened for certain serious, yet treatable conditions at birth, and for those babies with the conditions, it allows doctors to start treatment before some of the harmful effects happen.
Although newborn screening started with a single test for phenylketonuria (PKU) in the 1960s, screening is now available for over 60 conditions. In 2008, Congress passed The Newborn Screening Saves Lives Act, establishing a broad goal to improve the state of newborn screening programs and educate expectant parents on the benefits of screening. Part of this 2008 legislation allotted funding for a national online clearinghouse. Through a cooperative agreement with the Health Resources and Services Administration (HRSA), Genetic Alliance created Baby’s First Test.
Baby’s First Test (BabysFirstTest.org) compiles information about newborn screening for families and health professionals, including ways for parents to become involved and add their voice to the
newborn screening conversation. In fact, the continued success of newborn screening comes not only from doctors and politicians, but also from motivated parents who have advocated for improved
timeliness and more effective screening. While newborn screening may have saved the lives of many of these parents’ children, some of these parents’ children would have benefited from earlier diagnosis. In order to advocate for more effective screening, it is up to families to share their personal experiences with policy makers.
HOW CAN PARENTS GET INVOLVED?
Newborn screening policy and advocacy happens at many levels and in many different forms. Although there are newborn screening related activities that happen as part of national efforts and a
Federal committee can make recommendations, each state’s public health service (either through the legislature or through other committees) determines the panel of disorders babies are screened for as well as its implementation process for screening. For example, while the Advisory Committee on Heritable Disorders in Newborns and Children recommends a list of 32 conditions to screen for, New York’s program currently screens for 55 conditions. With federal guidance and varying state implementation, there are many ways, from the national level to the local level, that parent advocates can get involved.
One way for parents to get involved is to share their views at the national level. As part of the congressional hearing called Newborn Screening Saves Lives: The Past, Present, and Future of
the Newborn Screening System, Joye Mullis testified in front of the Senate Subcommittee on Children and Family telling her family’s story. Her baby Ethan was born on March 8, 2009 and in the words of the nurse, “he just didn’t look right. ” The nurse proceeded to non-invasively screen Ethan’s oxygen saturation levels with a pulse oximeter. After 14 surgeries to correct his pulmonary
atresia with a ventricular sepal defect, Ethan is now healthy. Although pulse oximetry screening was not mandatory in North Carolina, where Mullis lives, the nurse responsible for screening Ethan saved his life. Joye Mullis uses her story to show how important newborn screening is and how it could save many lives across the country. Her testimony played a vital role in the passing of the Newborn Screening Saves Lives Reauthorization Act of 2014.
Yet, even without speaking in front of the US Congress, there are still ways to get involved on the
national level. The Advisory Committee on Heritable Disorder in Newborns and Children through the Secretary of the Department of Health and Human Services discusses a number of topics related to newborn screening, including additions to the Recommended Uniform Screening Panel (RUSP). The RUSP is a list of 32 conditions, which the Committee recommends every baby, should be screened for. The RUSP recommendation is not a law, but it serves as a helpful guide for the states. Even with the RUSP, each state chooses which conditions it will include in their newborn screening program. As part of this effort, Baby’s First Test created a consumer task force filled with parents active in the community of genetic disorders and newborn screening. Each year, six to 10 stakeholders get together to focus on training, project development, and project execution. These task force members have given public comments to federal committees, joined their state newborn screening advisory panels, and even helped get laws passed in their states.
State policy is an important space for parental advocates as well. Many parents with children affected by newborn screening conditions advocate in their home states for an expanded newborn screening panel as well as improved services. Most states also have active advisory committees on newborn screening and many include parent advocates. Michelle Black and Michelle Leeker, for instance, are both advocates and voting members on the Advisory Council Kansas Newborn Screening. They work with physicians, genetic counselors, and psychologists from across the state to advise the Kansas Department of Health and Environment in creating a comprehensive and high quality newborn screening system by bringing to the conversation the perspective of parents and families.
Finally, as we approach Newborn Screening Awareness Month, it is important to remember that newborn screening expands well beyond parents receiving results. For many parents, learning their child is affected by a condition is scary. They look to their community and to support groups to meet other people in similar circumstances. This is where true advocacy can start, parents coming together for support within their community and becoming champions of change within the newborn screening system.
One such champion of change is Kelsey Baker, a parent and member of the 2014 consumer task force
with Baby’s First Test who took her community involvement to the next level. She wanted to help
others talk to their children about what it means to have siblings with a condition and how special it makes their family. Baker recently published a children’s book called “Our Special Family.” Kelsey wrote the book from the perspective of her son Eli, as he contemplates how life is different having a brother who needs medical attention. Although there are times Eli gets jealous of the attention Brody receives, he realizes there are some activities he can do that Brody cannot. In the end, Eli realizes how strong and happy his family is because of Brody.
As Kelsey Baker and other parent advocates have illustrated, parents have and can get involved with newborn screening advocacy at every level. When scientist Robert Guthrie discovered a blood test for detecting PKU in newborns in the 1960’s, he had no idea the impact it would have. For over 50 years,
newborn screening has benefitted children and families throughout the United States. For 50 more years and beyond, newborn screening will continue to evolve and grow with the help from parent advocates. For more information on getting involved, please visit BabysFirstTest.org •
ABOUT THE AUTHOR:
Briana Mittleman is a rising senior at Duke University studying Biology, Spanish, and Genome Science Public Policy. She is hoping to enter the field of law and biosciences in her future. Currently, Briana is an Expecting Health intern at Genetic Alliance in Washington D.C.