Conclusion

The results of pharmacogenetic research will impact the discovery, development and safe, effective use of medicines in several ways:

• Many diseases will be diagnosed based on genotype (underlying mechanism of disease) rather than phenotype (presenting signs and symptoms) alone, enabling health care providers to determine the optimal therapeutic approach.

• Health care providers will use SNP PrintsSM and other MRTs as a basis for selecting the medicine and dose most likely to be efficacious and least likely to cause ADRs in individual patients.

• Identification of disease susceptibility genes will allow implementation of preventive measures or early treatment of specific diseases.

• New medicines will be designed to avoid or exploit specific polymorphisms of genes involved in disease susceptibility or drug metabolism, transport or action.

Many challenges remain to be overcome. The human genome is complex and dynamic, and although we have made great progress in unraveling its mysteries, it still holds many secrets. Diseases and responses to medicines are likely to involve many genes, each of which plays a specific role and interacts with other genes and the environment in complex, interdependent ways. Technological challenges involving statistics, bioinformatics tools, high-throughput sample processing, accuracy and cost still exist, although progress is being made in resolving them. In addition to these scientific and technological issues, we as a society have to deal with the many complicated ethical, legal and social questions that arise as a result of our increased understanding of our genetic heritage and our growing ability to affect it and alter its effect on us.

History has taught us that scientific knowledge and technological advances will continue; our human challenge is to apply what we learn skillfully and for the betterment of all humanity. Although the clinical relevance of progress in pharmacogenetics is just beginning to become clear, it holds great promise for improving health and quality of life for millions of people throughout the world.

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