Jonathan Witonsky, MD
The Regents of the University of California, San Francisco
Research Project:
Disentangling the Social and Genetic Determinants of Genetic Ancestry Differences in Lung Function
Grant Awarded:
- Catalyst Award
Research Topics:
- clinical research
- epidemiology
- social behavioral research
Research Diseases:
- asthma
- COPD
- interstitial lung disease
- lung cancer
- occupational lung disease
- pulmonary fibrosis
Funded by the Jeanette Casano Catalyst Award
Pulmonary function tests (PFTs) are used to evaluate patients' respiratory health and diagnose lung diseases. PFTs measure lung volumes and airflow rates, and these measurements are compared to race/ethnicity-based reference values to determine if they are normal. Race/ethnicity-based reference values, however, are biased because they do not account for important social and genetic factors that affect lung function. As a result, race/ethnicity-based references perpetuate lung disease disparities. Lung function references that use patients' genetic data (genetic ancestry) instead of their race/ethnicity are far more precise. There is a risk, though, that genetic ancestry-informed methods also overshadow social determinants of lung function. We will determine whether genetic ancestry-informed lung function references overcome the biases of race/ethnicity-based approaches.
Update:
We found that the use of race/ethnicity-based equations may reclassify breathing impairment for 12.5 million persons, medical impairment ratings for 8.16 million, occupational eligibility for 2.28 million, grading of chronic obstructive pulmonary disease for 2.05 million, and military disability compensation for 413,000 U.S. veterans. These potential changes differed according to race. The findings were published in the New England Journal of Medicine. We are also expanding on this work using data from PRIMERO (Puerto Rican Infant Metagenomic and Epidemiologic Study of Respiratory Outcomes). PRIMERO is a birth cohort study aimed at understanding the disproportionate impact of asthma on Puerto Rican children. It follows pregnant mothers and their newborns, conducting annual assessments of the children’s respiratory health, environmental and social exposures, lung function, and collecting biospecimens over the first five years of life. This longitudinal approach helps in identifying early-life factors that contribute to lung function and asthma.
Page last updated: September 17, 2024
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