The Universe of Genetic Testing

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The Future: Advances, Potential, Conclusions

With the completion of the Human Genome Project, we have learned that the word “normal” has a more qualified meaning when it comes to a person’s genetic makeup. Genetic variations occur in great numbers in our genome (our total genetic makeup). We are all unique, not only in our personalities and appearance, but in our genotype as well.

Scientists continue to work on ways to better understand the structure of our genetic makeup, which could allow for important advances in the prevention and treatment of many diseases. There are promising new screening tests available, such as those for ovarian cancer or cystic fibrosis, that researchers are trying to replicate for other disorders as well. Knowledge of the genetics can also assist in the creation of “designer drugs” targeted at a specific mutation as the use of “Glivec” to treat chronic myeloid leukaemia.

Gene therapy is an approach to treating potentially lethal and disabling diseases that are caused by single gene deficiencies. With specialised techniques, gene expression can be manipulated to correct the problem in the particular patient, although the correction will not be passed on to the offspring of that patient. That is, corrections are made at the DNA molecule level to compensate for the abnormal gene so that the detrimental symptoms of the disease are not expressed in the patient. This is still highly experimental but clinical trials are being conducted and some promising results are beginning to emerge.

The application of other new technologies can be expected. Microarrays, or gene chips, have already extended chromosome analysis into the sub-microscopic world of copy number variation so that the genetic basis of diseases and traits can be identified. Similarly, next generation sequencing is expected to bridge the gap between whole genome analysis using microarrays and the single targeted gene analysis more common with current DNA sequencing techniques.

Further advances in genetic testing will eventually replace older methods of predicting prognosis, help to treat only those patients who will respond to therapy and guide further research into new therapies. Recent advances are also helping to increase our understanding of some complex cancers, such as multiple myeloma and lymphoma. Without doubt, advances in genetic research will have an impact on the laboratory tests available to all patients for the detection and treatment of an increasing variety of diseases.

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