Newborn screening (NBS) is an important public health measure that significantly improves the prognosis and quality of life for affected individuals. Early diagnosis and intervention can prevent serious complications, reduce healthcare costs, and provide families with essential support and information. However, addressing the challenges of accessibility, ethical considerations, and logistical issues is crucial to maximizing the benefits of these screening programs globally.
Sickle cell disease (SCD) is a hereditary blood disorder characterized by the production of abnormal hemoglobin, known as hemoglobin S, which causes red blood cells to become rigid and crescent shaped. This condition leads to various complications, including pain crises, anemia, infections, and organ damage. Early detection through newborn screening is crucial for managing and mitigating the impacts of SCD.
In the United States, September is recognized as National Sickle Cell Disease and Newborn Screening Awareness Month. Both are two important causes that have been close to my heart since 2000 when our personal journey began as we received the newborn screening diagnosis that our son had sickle cell disease. With three children before him, his sisters have sickle cell trait, and his brother has neither the trait nor disease. NBS for sickle cell disease meant early diagnosis and treatment for our son who is now an adult, Living Well with Sickle Cell®.
The benefits of newborn screening for families with sickle cell disease are many. Early diagnosis allows for timely intervention and parental education so that parents can better understand the disease, its complications, and the necessary care measures. NBS can prevent life-threatening complications like infections and stroke prevention. Newborn screening saves lives and improves quality of life is a core goal of NBS programs for both disease management as well as family planning.
It’s almost unthinkable now, but prior to NBS, babies would live through their first years, some experiencing pain, lost in a diagnostic odyssey, and unfortunately some would even die due to pneumonia or infection (sepsis), both preventable and treatable. We are indebted to the physicians and medical professionals who rely on the NBS program to screen every baby born in the USA for SCD so that every baby receives immediate access to disease modifying medications that may help them begin their journey to Living Well with Sickle Cell®. Our hope is that the promising work in gene therapy will lead to a universal cure, one that is accessible and affordable for every person living with SCD pain all over the world.
Newborn screening not only saves lives, but also reduces health care costs. Fortunately, many in the sickle cell community have been able to benefit from newborn screening and the valuable information it provides to those navigating this awful disease, but not everyone has this same access. Despite the many benefits of newborn screening across the sickle cell community, there are still countless other patient populations and families left to face long diagnostic journeys, countless appointments, copays and other barriers to needed care and treatment.
Early screening supports better management of these conditions and can reduce the long-term healthcare costs associated with untreated complications and the agony that some families endure. Broader education and awareness about the benefits of newborn screening must be brought to the attention of our elected officials and other decision makers so that they can continue to support newborn screening programs on both the federal and state level.
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