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Implementation of genetics to personalize medicine
1Division of Molecular Genetics, Columbia University, New York, New York 10032, USA. wkc15@columbia.edu
Gender Medicine
|November 21, 2007
Summary
Genomic medicine integration in healthcare is advancing, offering improved health outcomes and efficiency. Challenges like cost, education, and discrimination must be addressed for successful implementation.
Area of Science:
- Genomic medicine
- Clinical genetics
- Pharmacogenomics
Background:
- Integrating individual genetic and genomic information into healthcare promises improved health, efficiency, and cost reduction.
- Current efforts focus on inherited susceptibility, gene expression, and pharmacogenomic response for refined medical management.
Purpose of the Study:
- Review the current clinical utility of genetics and genomics.
- Explore future applications of genomic medicine.
- Identify obstacles and solutions for integrating genomic medicine into clinical practice.
Main Methods:
- PubMed database search (January 2000 - March 2007).
- Keywords included genetics, genomics, pharmacogenomics, newborn screening, specific genetic conditions (Long QT syndrome, BRCA1/2, MODY, hemochromatosis), coronary artery disease, copy number changes, genetic discrimination, and education.
- Restricted to English-language human studies.
Main Results:
- Genetics is incorporated into newborn screening, breast cancer risk stratification, and treatment.
- Molecular genetic tests are increasingly available for arrhythmias, diabetes, cancer, coronary artery disease, and pharmacogenomics.
- Barriers include testing costs, limited genetic literacy among patients and providers, and concerns about genetic discrimination.
Conclusions:
- Genetics and genomics will see increased utilization across all medical fields.
- Healthcare providers and patients need realistic expectations regarding predictive power and current limitations.
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