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Integration of genomics into medical practice
1Department of Genetics, University of Alabama at Birmingham, 1720 2nd Ave. South, Kaul 230, Birmingham, Alabama 35294, USA.
Discovery Medicine
|November 16, 2013
Summary
Genomic technologies are increasingly integrated into medical practice for prevention, diagnosis, and targeted therapies. While challenges remain, widespread genomic sequencing is a likely future development in healthcare.
Area of Science:
- Genomic Medicine
- Translational Genomics
- Clinical Genomics
Background:
- The impact of human genome sequencing on medical advancements is evident.
- Genomics is actively being integrated into various aspects of clinical practice.
Purpose of the Study:
- To highlight the current applications of genomics in medicine.
- To discuss the future potential and challenges of widespread genomic sequencing.
Main Methods:
- Review of current genomic applications in prevention, diagnosis, and therapeutics.
- Discussion of technical, ethical, and systems challenges for routine genome sequencing.
Main Results:
- Genomic approaches are used in prenatal testing, carrier screening, and disease risk assessment.
- Cytogenomics and whole exome/genome sequencing have advanced diagnostics.
- Pharmacogenetic testing, tumor sequencing for cancer therapy, and targeted therapies are current therapeutic applications.
Conclusions:
- Genomics is already integrated into medical practice across prevention, diagnosis, and treatment.
- Widespread routine genome sequencing is a future possibility, pending resolution of technical, ethical, and healthcare system challenges.
- The integration of genomics into medicine is an ongoing, gradual process.
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