Future clinical applications of genetic research

Genetics is rapidly changing the practice of clinical medicine. Advancing knowledge about the relationships between genes and disease and genes and treatment outcomes will continue to shape the future practice of medicine. Information resulting from large-scale genetic studies like NUgene will make numerous medical innovations possible and help integrate genetics into clinical care. Future applications include:

Genetic Risk Assessment

Traditionally, genetic risk assessments have consisted of analysis of a person's medical and family history and applying population risk estimates. Occasionally, genetic tests are offered to provide more specific and personalized risks. Currently available genetic tests identify specific genetic alterations that appreciably increase an individual's risk for adult-onset diseases such as certain forms of breast cancer and colon cancer. However, these predictive genetic tests are only applicable to a small percentage of individuals with a significant family history of these diseases.

Projects like NUgene will make possible a future where genetic risk assessments are incorporated into all areas of medicine and used as screening tools providing personalized medical risks. Genetic risk assessments will likely predict susceptibility to specific diseases, such as diabetes, heart disease and cancer. This knowledge will allow patients to alter their lifestyles to reduce the likelihood of developing certain diseases or provide the opportunity for treatment with preventive or disease-delaying medicine.

The genetic basis of common diseases, such as many forms of cancer, hypertension and arthritis are currently being investigated. We know that the interaction of multiple genetic variations and environmental factors are responsible for the development of these diseases. As we learn more about how these genetic variants interact with each other and with the environment, an individual's risk for developing a particular condition will be better predicted.

Dr. Francis Collins, head of the National Human Genome Research Institute, predicts that by 2010, predictive genetic tests will be available for several common conditions 1. Interested people will be able to learn their individual susceptibilities to disease and pursue options that may reduce their risk. Possible interventions may include targeted medical surveillance, lifestyle modifications, or drug therapy. The goal of these interventions includes early detection allowing for more effective treatment of disease, disease risk reduction, delay of disease onset, or complete prevention of the disease.

Information generated from the NUgene Project will be used to learn more about the complex genetic characteristics of common diseases, develop predictive genetic tests, and create effective medical interventions. This knowledge will incorporate information from the Human Genome Project into an individual's medical care.


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Response to Therapy

Based on an individual's genetic make-up, physicians will be able to predict his/her response to certain drugs and environmental substances. Armed with this information, physicians will be able to select more specific and successful medical treatments for their patients.

Response to a treatment or medication is related to how an individual's body breaks down and processes the medication. Information gained from large population studies, like the NUgene Project, can be used to better understand genetic contributions to drug metabolism. This information can then be used to help tailor drug therapy to minimize the chance of developing any adverse drug reactions as well as determining which medication will be most effective in treating the condition. This new area of research is called pharmacogenomics.

Most therapies currently used to treat life-threatening and life-altering diseases such as coronary artery disease, stroke, mental illness, and many types of cancer, are far from optimal. The effectiveness of the therapies now used to treat these conditions can vary from one person to another. For example, treatment of depression has been a longstanding experiment of trial and error with each patient. Now, pharmacogenomic research into genes which influence the metabolism of antidepressants is providing revolutionary insight. Scientists are discovering ways to predict which medicines will be most effective for which patients, enabling rapid, successful treatment of these common diseases2.

By understanding the genetics involved in these conditions as well as learning more about the common genetic differences we all carry, new and more effective treatments can be developed. Knowing this information will help the medical field determine accurate dosage of the most effective medication for specific patients at the appropriate time. NUgene's goal is to provide information on how our genetic makeup contributes to both the underlying disease condition and efficacy of the corresponding medication. This combination of knowledge will bring us closer to the goal of treating the cause of disease and not just the symptoms.


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Reducing Adverse Drug Reactions

Today, approximately 100,000 people die each year from adverse reactions to drugs3 and millions of others must bear uncomfortable or even dangerous side effects. In some individuals, medications prescribed by a physician can have associated side-effects called adverse drug reactions. A study published in the Journal of the American Medical Association revealed that more than 2 million hospitalized patients had severe adverse drug reactions annually in the United States even when the medications were appropriately prescribed and administered3. This study ranked "adverse drug reactions" between the fourth and sixth leading cause of death in the United States. As DNA sequences that influence drug response are identified, the number of adverse reactions will significantly decline and many side effects will be avoided.


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Gene Therapy

Gene therapy is another exciting application of DNA science. Gene therapy is when a gene is inserted into cells to either correct a gene that is not working properly or to replace a gene that is missing. This rapidly developing field holds great potential for treating or even curing genetic and acquired diseases, using normal genes to bolster immunity to disease or to replace defective genes. For example, a gene for tumor suppression could be inserted into a cancerous growth, preventing its progression to malignancy.

With new knowledge about an individual's genetic information, a gene could be designed specifically to treat his/her disease. This designed gene then could be administered to that individual, either to stop the progression of the disease or to possibly cure the disease altogether. Additionally, gene therapy could be applied to improving how our body functions, such as using normal genes to bolster immunity to disease.


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References

1. Collins FS and VA McKusick (2001). Implications of the Human Genome Project for medical science. JAMA 285:540-544.

2. Murphy GM, Kremer C, Rodrigues HE, and AF Schatzberg (2004). Pharmacogenetics of antidepressant medication intolerance. Am J Psychiatry 160:1830-1835.

3. Lazarou J, Pomeranz BH, and PN Corel(1998). Incidence of adverse drug reactions in hospitalized patients. JAMA 279:1200-1205.


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