Pitfalls of genetic testing

Article Abstract:

Genetic testing often may offer no practical conclusions other than test results. A growing tendency to look for genetic abnormalities within a variety of diseases contains certain complexities. Multiple and variable DNA patterns often appear in unaffected people and even in healthy family members for the same illness. The genetic transmission of cancer, Alzheimer's disease, diabetes, and heart disease are not straightforward and depend on other factors as well. Social, economic, biologic, and psychological influences add to the specific DNA patterns, making predictions on disease development highly suspect. DNA tests involving the familial breast cancer genes BRCA1 and BRCA2 may actually cause more harm by identifying women with this particular variant without providing any further medical or psychological help. The tests do not offer confirmation of the prescence of cancer nor absolute risk assessments. Furthermore, only a small percentage of breast cancers appear familial. Nevertheless, a number of laboratories are marketing breast cancer test kits for women.

Marketing, Column, Ethical aspects, Medical tests, Breast cancer

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Genetic testing for Huntington's disease - a family issue

Article Abstract:

Genetic testing for Huntington's disease may have far-reaching psychological and ethical implications. Huntington's disease is a genetic disorder characterized by the progressive degeneration of the central nervous system. Children of individuals with Huntington's disease have a 50% chance of inheriting the disorder. It usually develops between the ages of 30 and 50, so individuals at risk may live with fear and anxiety for a large part of their life. A genetic test for Huntington's disease became available in the late 1980s. This test determines the probability that an individual has inherited the gene for Huntington's disease. A research study found that individuals at risk for the disease who undergo screening experience considerable relief after being tested. Genetic testing may also give rise to moral dilemmas that need to be addressed with caution by families affected by the disease.

Psychological aspects, Editorial

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Huntington's disease - Making connections

Article Abstract:

Huntington's disease is associated with transcriptional dysregulation and mitochondrial impairment, believed to be independent effects of mutant huntington. However, studies support their interdependent effect through reduced activity of peroxisome proliferator-activated receptor-[gamma] coactivator 1 alpha (PGC-1alpha) and of proteins that provide protection against reactive oxygen species (ROS), thus indicating a connection between mitochondrial impairment and transcriptional dysregulation.

Care and treatment, Disease/Disorder overview

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