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09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.9K
Evolving health care through personal genomics.
1Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA; at the Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts 02139, USA; and at The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
Nature Reviews. Genetics
|February 1, 2017
Summary
Genomic sequencing costs have decreased, making its use in healthcare widespread. Community data sharing is key to overcoming challenges and improving the clinical application of genomics.
Area of Science:
- Genomics and Precision Medicine
Background:
- Next-generation DNA sequencing technologies have rapidly advanced, significantly reducing human genome sequencing costs.
- Genomics is increasingly integrated into healthcare, spanning all life stages from preconception to adult medicine.
Purpose of the Study:
- To highlight the expanding role of genomics in clinical practice.
- To identify and address challenges hindering the full adoption of genomics in healthcare.
- To present community-driven data sharing as a viable solution for improving genomic applications.
Main Methods:
- Review of advancements in DNA sequencing technologies.
- Analysis of the integration of genomics across the patient care continuum.
- Exploration of data sharing models in genomics.
Main Results:
- The cost of sequencing a human genome has dramatically decreased due to technological evolution.
- Genomics is becoming a pervasive tool in healthcare, impacting various life stages.
- Community-driven data sharing initiatives show promise in enhancing the accuracy and efficiency of clinical genomics.
Conclusions:
- Despite challenges, the clinical utility of genomics is expanding.
- Community-driven data sharing is a crucial strategy for overcoming barriers to clinical genomics.
- Further development and adoption of data sharing are essential for realizing the full potential of genomics in patient care.
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