Newborn screening for cystic fibrosis, a genetic disorder affecting the lungs and digestive system, is failing to identify many babies from minority communities, potentially delaying crucial early treatment. The screening process, which includes a blood test for elevated proteins and subsequent genetic testing, is largely based on clinical trials that primarily involved white children.
Dr. Meghan McGarry, a pediatric pulmonologist at Seattle Children’s Hospital, explains that the genetic tests focus primarily on mutations found in people of European ancestry. This bias results in a significant disparity in detection rates. While these tests accurately identify an estimated 95 percent of white babies with cystic fibrosis, they miss 44 percent of Asian babies, 22 percent of Black infants, and 14 percent of Hispanic, Native American, and Alaskan Native babies.
The impact of this disparity is profound. Late diagnosis can lead to severe malnutrition and increased risk of serious lung problems and death. Rena Barrow-Wells, a mother who experienced this firsthand, fought for years to get a proper diagnosis for her son Jarrod. Despite displaying classic symptoms of cystic fibrosis as a newborn, it took four years and numerous hospital visits before Jarrod was correctly diagnosed.
Some states are taking steps to address this issue by expanding their screening programs. Wisconsin, for instance, tests for 689 mutations, while New Jersey recently increased its screening from one to 139 mutations. However, progress is uneven across the country. In Mississippi, where nearly 38 percent of the population is Black, newborns are still tested for only a single genetic variant primarily found in white people.
Cost remains a significant barrier to expanding screening programs. Dr. Rachel Linnemann, director of the Children’s Healthcare of Atlanta and Emory University Cystic Fibrosis Care Center, notes that more comprehensive mutation panels come with higher expenses. This financial constraint continues to perpetuate the racial and ethnic disparities in early cystic fibrosis detection and treatment.
See: “For Some Families of Color, a Painful Fight for a Cystic Fibrosis Diagnosis” (May 29, 2024)
