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Pediatr Res. 2020 Jan;87(2):221-226. doi: 10.1038/s41390-019-0528-z. Epub 2019 Aug 05.

The promise and pitfalls of precision medicine to resolve black-white racial disparities in preterm birth.

Pediatric research

Heather H Burris, Clyde J Wright, Haresh Kirpalani, James W Collins, Scott A Lorch, Michal A Elovitz, Sunah S Hwang

Affiliations

  1. Division of Neonatology, The Children's Hospital of Philadelphia at the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [email protected].
  2. Section of Neonatology, Department of Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.
  3. Division of Neonatology, The Children's Hospital of Philadelphia at the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  4. Division of Neonatology, Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
  5. Maternal and Child Health Research Center, Department of Obstetrics and Gynecology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

PMID: 31382269 DOI: 10.1038/s41390-019-0528-z

Abstract

Differences in preterm birth rates between black and white women are the largest contributor to racial disparities in infant mortality. In today's age of precision medicine, analysis of the genome, epigenome, metabolome, and microbiome has generated interest in determining whether these biomarkers can help explain racial disparities. We propose that there are pitfalls as well as opportunities when using precision medicine analyses to interrogate disparities in health. To conclude that racial disparities in complex conditions are genetic in origin ignores robust evidence that social and environmental factors that track with race are major contributors to disparities. Biomarkers measured in omic assays that may be more environmentally responsive than genomics, such as the epigenome or metabolome, may be on the causal pathway of race and preterm birth, but omic observational studies suffer from the same limitations as traditional cohort studies. Confounding can lead to false conclusions about the causal relationship between omics and preterm birth. Methodological strategies (including stratification and causal mediation analyses) may help to ensure that associations between biomarkers and exposures, as well as between biomarkers and outcomes, are valid signals. These epidemiologic strategies present opportunities to assess whether precision medicine biomarkers can uncover biology underlying perinatal health disparities.

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