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Planning the future of newborn screening for cystic fibrosis

Over the last three decades, newborn screening (NBS) has advanced our ability to diagnose cystic fibrosis (CF) early in life. After the discovery of the CFTR gene in 1989, the ability to use genetic data in NBS became possible and in 1994, Wisconsin was the first state to utilize this technology and set the stage for the current practices of CF NBS across the country. Because NBS for CF is controlled by the individual states, the process varies from state to state. Typically, states use local racial and ethnic information when determining how to screen for CF and, as a result, changing demographics in terms of race and ethnicity may lead to outdated and potentially insensitive screening. National data recognizes that the detection of carriers in the non-Hispanic white (NHW) population is relatively good, over 80%, while the same detection of carriers in the Hispanic population may be less than 60%. This has led to a racial and ethnic discrepancy in NBS sensitivity in the US, with 90% of NHW and only 69% of Hispanic genes identified. In Illinois, 40% of Hispanic infants with CF had only one defined mutation on newborn screening. Additionally, how genetic counseling is offered and provided may vary widely. The American College of Obstetricians and Gynecologists (ACOG) has guidelines on CF carrier screening, but ACOG surveys reveal only 27% fully follow these guidelines when working with families with a higher risk of CF. Both preconception and prenatal counseling varies by state and local care providers. The published Wisconsin experience tells us that this may leave families confused, even when provided adequately. The article, “Changing Incidence of Cystic Fibrosis in Wisconsin, USA,” explores the changing incidence of CF as it relates to the racial and ethnic backgrounds of individuals with CF. Wisconsin discovered a trend of increased CF cases per births per year over the last 17 years. Other states describe conflicting trends in the incidence of CF and the genotypes identified, but these states have not considered race and ethnicity in their findings. When considering race and ethnicity, Wisconsin showed a significant increase in the number of carriers identified through NBS in non-Hispanic Black and Hispanic populations. This may be due to that fact that in 2002, Wisconsin changed the genetic portion of its NBS for CF from only the deltaF508 mutation to the ACOG 23-mutation panel increasing detection. Even then, the ACOG23-mutation panel only fully detects 72% of Hispanic individuals and 64% of African-American individuals. Over the seventeen years of data collected in Wisconsin, the birth rate has decreased while at the same time, the number of Hispanic babies born has increased. The article points out that this shift may directly influence the ability to detect CF and affect its care and outcome. The reported prevalence of CF in the US is related, however, to both detection rates and frequency. As the quality of genetic counseling may play a role in the frequency of CF, the current issues for NBS for CF in the US relate directly to our ability to detect CF and available genetic counseling. In order to best serve the CF population, we must screen appropriately, adapting NBS procedures to best detect CF in our changing