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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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Genomics for all in the 21st century?
Martina C Cornel1, Vence L Bonham2
1Department of Clinical Genetics and Amsterdam Public Health Research Institute, Section Community Genetics, VU University Medical Center, BS7, A527, Mail A509 APH, PO Box 7057, 1007 MB, Amsterdam, The Netherlands. MC.Cornel@vumc.nl.
Journal of Community Genetics
|September 15, 2017
Summary
Genomic research lacks ancestral diversity. Enhancing global diversity in genomics and integrating it into healthcare requires community engagement, especially with isolated populations.
Area of Science:
- Genomics
- Genetics
- Bioethics
Background:
- The International Human Genome Project's completion highlighted a persistent lack of ancestral diversity in human genomics research.
- Current genomic research does not accurately reflect the global population's ancestral makeup.
Purpose of the Study:
- To advocate for enhanced global ancestral diversity in 21st-century genomic research.
- To promote the integration of genomic knowledge into healthcare for equitable benefit.
- To address critical barriers hindering diversity in genomics.
Main Methods:
- A global perspective synthesis from the Journal of Community Genetics special issue.
- Emphasis on focused community engagement, including isolated populations.
- Integration of genomics and health services across diverse global landscapes.
Main Results:
- Publications in the special issue illustrate the need for focused community engagement.
- Meaningful integration of genomics and health services is crucial.
- Advancements in sequencing technology and cost reduction present an opportunity to overcome barriers.
Conclusions:
- Achieving global ancestral diversity in genomics is essential for equitable healthcare.
- Community engagement and integrated health services are key to progress.
- Addressing existing barriers is critical to realizing the full potential of genomic research for all populations.
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