Genomic sequencing: the case for equity of care in the era of personalized medicine.

Pediatr Res

Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

Published: January 2025

Over the past two decades, genomic sequencing (exome and genome) has proven to be critical in providing a faster and more accurate diagnosis as well as tailored treatment plans for a variety of populations. Despite its potential, disparities in access to genomic sequencing persist, predominantly among underrepresented and socioeconomically disadvantaged groups and populations. This inequity stems from factors such as: 1) high costs of sequencing, 2) significant gaps in insurance coverage, 3) limited availability of genetic services in many healthcare institutions and geographic areas, and 4) lack of diversity in genetic research and databases. Addressing these barriers is essential to realizing the full benefits of personalized treatment approaches for all individuals. By doing so, healthcare systems can move towards a more inclusive model that delivers optimal care for everyone. This manuscript emphasizes these issues by considering diverse perspectives from various ethnic groups, summarizing findings across different patient populations (adults, pediatrics, critical/non-critical care), and highlighting the importance of collaboration and workforce training in genomic sequencing and interpretation. IMPACT: Presentation of exemplary studies demonstrating the advantages of genomic sequencing in various clinical settings and a variety of high-risk populations. Review of obstacles in providing equitable genomic medical care and the importance of national and international collaborations An overview of the ethical aspects of genomic sequencing is provided.

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Source
http://dx.doi.org/10.1038/s41390-025-03869-6DOI Listing

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