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Updated: Jun 27, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Advancing genomics to improve health equity.
Ebony B Madden1, Lucia A Hindorff2, Vence L Bonham2
1Office of the Director, National Human Genome Research Institute, Bethesda, MD, USA. ebony.madden@nih.gov.
Human genomics research must improve diversity to advance health equity. Addressing inequities in genomics is crucial for fair health opportunities for all populations.
Area of Science:
- Genomics and Health Equity Research
Background:
- Health equity ensures fair opportunities for optimal health.
- Human genomics research has historically lacked diversity, hindering health equity.
- Underrepresentation in genomics research creates scientific and clinical disparities.
Purpose of the Study:
- To examine health equity within human genomics and genomic medicine.
- To identify gaps and opportunities at the intersection of genomics and health equity.
- To provide recommendations for advancing health equity in genomics research.
Main Methods:
- Convened experts in genomics and health equity research.
- Conducted a comprehensive review of current literature.
- Analyzed findings on inequities in the genomics field.
Main Results:
- Human genomics research has not adequately reflected population diversity.
- Lack of diversity leads to significant scientific and clinical consequences.
- Gaps and opportunities exist at the genomics-health equity interface.
Conclusions:
- Achieving health equity in genomics requires addressing systemic inequities.
- Greater effort is needed to ensure equitable representation in genomics research.
- Integrating health equity principles is essential for genomic medicine's future.
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