Health disparities stemming from race and ethnicity differences: best practices for reporting demographics in newborn screening research

ABSTRACT

he recent and persistent COVID-19 pandemic highlights the mounting published data on health disparities in the United States, including higher mortality in minority communities due to systemic racism embedded in our society. Throughout history, “race” has been supposition as a biological variable instead of a social and political construct that has changed throughout history. Using race and ethnicity as variables in human genomic research has had negative consequences for how the research is translated into clinical practice, incorporated into public health programs, and implemented in public policy. Newborn screening (NBS) is one of few public health programs that does not target a particular population and is available to every infant born in the United States regardless of race or socioeconomic status. Each year during the process of screening 4 million newborns for over 80 disorders, state-based public health programs collect a variety of demographic and birth-related data. The potential to leverage the data collected could improve our understanding of diseases and interventions, and in time, could transform healthcare by reducing the health disparity gap. However, inaccuracies or misuse of non-biological variables such as race or ethnicity can lead to social harms and unvalidated conclusions. NBS disorders are screened using a combination of biological and physiological assessments and are conducted either in the birthing hospital or in a state public health laboratory. The laboratory measurements are performed using a blood sample collected on filter paper card. These dried blood spot (DBS) cards also list demographic and birth data that is vital to interpreting test results. Although the list of data collected varies across state programs, most programs collect sex, birth weight, gestational age, the use of antibiotics, feeding type, and/or transfusion status. Residual DBS are a valuable resource and state programs store them for use in program improvement activities and research. Over two-thirds of state programs store residual DBS for longer than one year, and at least 18 include consent for research as one of the collected data points. While NBS research studies often rely on data collected on the DBS card for reliable variables, some of the data represents demographic information provided by the parents and collected at the birthing center. It is not uncommon for healthcare professionals who collect the DBS specimen to infer the newborn’s ascriptive race and/or ethnicity. This leads to potentially inaccurate data that has been used in NBS research studies to characterize study populations and provide conclusions about rare mendelian disorders in specific racial and ethnic populations. The accurate representation of race and ethnicity is always important, especially when a condition is added to nationwide screening. In 2010, NBS for severe combined immunodeficiency (SCID), a life-threating disorder caused by the lack of T-cells, was recommended for nationwide screening. Prior to screening, diagnosed patients that were followed long-term were predominately white (81%). However, a recent publication of screening results from 3.25 million California infants reported that SCID did not occur more frequently in any ethnic group, and found no predominant founder mutation. SCID frequently occurred because of homozygous autosomal recessive inheritance, and 80% of cases have no family history. Accurate representation of race and ethnicity could be used to assess health outcomes and disparities across all racial groups and other biological variables such as genetic ancestry should be considered to help advance the understanding of etiology of SCID.This presentation will exam how race and ethnicity is collected from NBS programs in the United States and how race is used in published NBS literature. Additionally, we will explore the lack of standardized language used to collect information on race and ethnicity in NBS and the incorrect assumption that race and ethnic information is based on parent report. We wil discuss the impact of these practices on NBS research, propose best practices for reporting race and/or ethnicity to ensure accurate evaluation of health outcomes and disparities, and recommend that NBS researchers use other biological variables such as genetic ancestry in research to assess true disease risk