Many people still think that even if a genetic diagnosis is confirmed there is nothing that can be done to help the individual. This is simply not true. There are a number of different interventions and treatments that are currently available or are under investigation. The following lists some of the methods used to provide a better quality of life to individuals with genetic disorders.
Treatment of Symptoms -- Often symptoms can be treated to lessen the severity of a condition.
Increased Surveillance -- If an individual has either a known genetic condition, or genetic risk than increased surveillance for certain health problems can detect the problem earlier. Earlier detection can often lead to a better outcome.
Early Intervention -- Speech therapy, occupational therapy, and physical therapy can all help an individual achieve their full potential.
Dietary Interventions -- Following specific diets may prevent or reduce the symptoms and characteristic effects of some metabolic conditions (i.e. PKU)
Gene Therapy -- This has been successful in "curing" a couple genetic conditions. However, there are a number of technical difficulties and problems that will need to be worked out before gene therapy becomes a common treatment.
Enzyme Replacement Therapy -- This is used successfully for the treatment of some lysomal storage disorders (i.e. Gaucher Disease). It is not a cure and it requires lifelong treatment (which is expensive). However, it can stop the progression of the disease and seems to help reduce symptoms.
Prophylactic surgery -- When an individual has inherited a single gene mutation that places them at a higher risk for cancer this is sometimes an option or recommendation given to the individual. Surgery to remove organs, such as the breast, ovaries, or colon, will significantly reduce the risk of cancer in individuals at high risk. Surgery may therefore be lifesaving or may prevent individuals from undergoing difficult cancer treatments.
Stem Cell Research -- Information coming soon!
