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Current American Thoracic Society (ATS) standards promote the use of race and ethnicity-specific reference equations for pulmonary function test (PFT) interpretation. There is rising concern that the use of race and ethnicity in PFT interpretation contributes to a false view of fixed differences between races and may mask the effects of differential exposures. This use of race and ethnicity may contribute to health disparities by norming differences in pulmonary function. In the United States and globally, race serves as a social construct that is based on appearance and reflects social values, structures, and practices. Classification of people into racial and ethnic groups differs geographically and temporally. These considerations challenge the notion that racial and ethnic categories have biological meaning and question the use of race in PFT interpretation. The ATS convened a diverse group of clinicians and investigators for a workshop in 2021 to evaluate the use of race and ethnicity in PFT interpretation. Review of evidence published since then that challenges current practice and continued discussion concluded with a recommendation to replace race and ethnicity-specific equations with race-neutral average reference equations, which must be accompanied with a broader re-evaluation of how PFTs are used to make clinical, employment, and insurance decisions. There was also a call to engage key stakeholders not represented in this workshop and a statement of caution regarding the uncertain effects and potential harms of this change. Other recommendations include continued research and education to understand the impact of the change, to improve the evidence for the use of PFTs in general, and to identify modifiable risk factors for reduced pulmonary function.

Race and Genetic Ancestry in Medicine U.S. health inequities won’t be eliminated by abandoning the use of race and ethnicity in research and clinical practice, since these variables capture key epi...

Race and Genetic Ancestry in Medicine U.S. health inequities won’t be eliminated by abandoning the use of race and ethnicity in research and clinical practice, since these variables capture key epi...

BACKGROUND: Asthma is a heterogeneous disease. Clinical blood parameters differ by race/ethnicity and are used to distinguish asthma subtypes and inform therapies. Differences in subtypes may explain population-specific trends in asthma outcomes. However, these differences in racial/ethnic minority pediatric populations are unclear. OBJECTIVE: Investigate the association of blood parameters and asthma subtypes with asthma outcomes and examine population-specific eligibility for biologic therapies in minority pediatric populations. METHODS: Using data from two asthma case-control studies of pediatric minority populations, we performed case-control (N=3,738) and case only (N=2,743) logistic regressions to quantify the association of blood parameters and asthma subtypes with asthma outcomes. Heterogeneity of these associations was tested using an interaction term between race/ethnicity and each exposure. Differences in therapeutic eligibility were investigated using chi-square tests. RESULTS: Race/ethnicity modified the association between total immunoglobulin E (IgE) and asthma exacerbations. Elevated IgE was associated with worse asthma outcomes in Puerto Ricans. Allergic asthma was associated with worse outcomes in Mexican Americans whereas eosinophilic asthma was associated with worse outcomes in Puerto Ricans. A lower proportion of Puerto Ricans met dosing criteria for allergic asthma-directed biologic therapy than other groups. A higher proportion of Puerto Ricans qualified for eosinophilic asthma-directed biologic therapy than African Americans. CONCLUSION: We found population-specific associations between blood parameters and asthma subtypes with asthma outcomes. Our findings suggest that eligibility for asthma biologic therapies differs across pediatric racial/ethnic populations. These findings call for more studies in diverse populations for equitable treatment of minority patients with asthma.

Telomere length (TL) is associated with numerous disease states and is affected by genetic and environmental factors. However, TL has been mostly studied in adult populations of European or Asian ancestry. These studies have identified 34 TL-associated genetic variants recently used as genetic proxies for TL. The generalizability of these associations to pediatric populations and racially diverse populations, specifically of African ancestry, remains unclear. Furthermore, six novel variants associated with TL in a population of European children have been identified but not validated. We measured TL from whole blood samples of 492 healthy African American youth (children and adolescents between 8 and 20 years old) and performed the first genome-wide association study of TL in this population. We were unable to replicate neither the 34 reported genetic associations found in adults nor the six genetic associations found in European children. However, we discovered a novel genome-wide significant association between TL and rs1483898 on chromosome 14. Our results underscore the importance of examining these genetic associations with TL in diverse pediatric populations such as African Americans.

Objective: To better understand how meteorological variables, air quality variables, and pollen counts collectively contribute to asthma-related emergency department visits (AREDV) and asthma-related hospitalizations (ARH) among pediatric and adult patients in the New York City borough of the Bronx. Methods: The numbers of daily adult and pediatric AREDV and ARH from 2001 to 2008 were obtained from three Bronx hospitals. After removing outliers, interpolating missing data, and standardizing variable values by scaling the data using z-scores, data were analyzed using Spearman rank tests and linear regression models for the full year and each season. Results: There were a total of 42,065 AREDV and 1,664 ARH at both Bronx hospitals. With the exception of a spring peak in AREDVs, AREDVs and ARHs follow a cyclical pattern, climbing in the fall, plateauing in the winter, dropping in the spring, and reaching a low in the summer. Among the 11 air quality, meteorological, and pollen count variables, temperature and tree pollen made the greatest contribution to AREDV with scaled coefficients of –0.337 and 0.311 respectively; equating to an additional AREDV for every 5.0-unit decrease in temperature and an additional AREDV for every 186.0-unit increase in tree pollen. These two variables were confirmed to have independent associations with AREDV prior to the data interpolation. Grass pollen was also found to have a relatively large contribution to AREDV during the summer with a scaled coefficient of 0.314, equating to an additional AREDV for every 2.3-unit increase in grass pollen. Conclusion: There are distinct peaks of increased AREDVs that are closely associated with increased tree pollen counts in the spring and decreasing temperatures in the fall. Early anticipation of these air quality, meteorological, and pollen factor changes based on ongoing surveillance could potentially guide clinical practice and minimize AREDVs in the Bronx.

Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted. These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution. © 2005 Nature Publishing Group., link_to_OA_fulltext