Problems of Genetic Testing

Genetic blood analysis can generate detrimental latent effects on patients who are diagnosed with genetic diseases which have no known cure, a high mortality rate, treatments which do little good, and a long time lag between diagnosis and disease onset.
Huntington's Disease (HD) is a dominant autosomal disease that is characterized by chorea (uncontrolled shaking of the extremities), decline in cognitive activity, and other neurological symptoms. It is always fatal, and it may last fifteen years or more from onset to death. Patients are almost always institutionalized for years before they die. If one parent has HD, offspring have a 50% chance of being afflicted.

HD is caused by a small sequence being repeated in a person's DNA. Normal (unaffected) people have at most 28 repeats, while HD patients have between 39 and 55 repeats. A simple screen of a patient's genome can tell doctors if a person is at risk for HD. Unfortunately, this diagnosis leads to neither a suppression of the disease nor a treatment for the patient. The clinical treatments currently available do little to alleviate HD patients' suffering.

How can a test for HD help a person? It reduces uncertainty about the possibility of having the disease. If the test is negative, then a couple can begin a family without worry of passing on HD. However, at the time of screening, patients are typically still normal and healthy, showing no signs of HD. A positive test informs patients that their lives will be cut short, potentially causing severe negative psychological effects such as depression.

Alzheimer's disease (AD) is another late-onset neurodegenerative disorder also known to be congenital. It is a recessive disease, so only if both parents are carriers will it be passed on to the children. There is no cure for AD, and few effective treatments are available.

The same psychological effects may be observed in a person who has tested positive for AD early in life as are seen in HD patients. The idea of "waiting to die" is not relished by most people, but testing positive for incurable late-onset disease can definitely cause this reflex.

Living in the shadows of a deadly genetic disease hinders the quality of one's life dramatically. In principle, medical techniques are developed to improve quality of life. If careful consideration is not given to diseases such as Huntington's and Alzheimer's, genetic analysis could prove to be too emotionally costly to those diagnosed positive.
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