Box 345 Organizations

There are many other places that you can turn to for information. An Internet search finds organizations such as the Alliance of Genetic Support Groups, the March of Dimes, and the National Organization for Rare Disorders. Some individuals who are trying to take an active role in communication about disorders in their families have established Web pages that present information or reach out to others with similar problems. There are several ways to locate an organization that provides information or support relative to a particular disease. For many different diseases, organizations raise funds for research, provide support groups, and provide information about the disease. One example is The Foundation Fighting Blindness, which supports research, carries on educational programs, has local chapters throughout the country, and holds national meetings attended by patients, family members, caregivers, and educators who want to understand more about forms of retinal degeneration, such as retinitis pigmentosa, macular degeneration, or retinoschisis. Often your doctor's office will have information about such organizations. If they don't, try checking with a medical geneticist or other specialist who sees many cases of the trait in question. Even just looking under Social Service Organizations in the yellow pages of the phone book for a large city can connect you with a variety of organizations that can help you get information or support. Looking in the phone book for a town with a population of 100,000 yielded organizations that deal with cancer, lung diseases, multiple sclerosis, kidney disease, sickle cell anemia, epilepsy, and birth defects (the March of Dimes).

In the early stages of development of a genetic test, the test may not be available from a clinically certified lab. There can be a lot of reasons for this. If some aspect of the technology still needs to be worked out, the test may be feasible but not yet meet clinical standards. In some cases, the test protocol meets clinical standards, but not enough is yet known about what can be predicted based on the kinds of results that are produced.

For instance, if a mutation is associated with the trait but does not seem to be an outright cause of the trait, researchers may elect to continue more investigation of the gene before making testing available for general clinical use so that they do not end up putting uninterpretable results into the hands of doctors and patients who will then not know what to do with information that is ambiguous. For instance, there is a sequence variant in the optineurin gene that is found more frequently in people with glaucoma than in people who do not have glaucoma. However, there are many people with glaucoma who do not have it, and many people who have it who do not have the disease. For now, it is considered a risk factor—something that tells you that you have a higher chance of the disease than the general population without indicating that you are certain to develop the disease. Until more is understood about what role this sequence variant is playing, further research is needed and results are not clinically very helpful.

In other cases, a test may involve a trait that is rare for which there has been no incentive to work out the test under the more involved conditions

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