Biomedical Engineering Reference
In-Depth Information
gene. Beyond supportive medical care and counseling, there is no
treatment for this progressive neurologic disease in which mental
and physical disturbances limit and shorten life. Deciding who
should be tested and when the testing should be done is not
simple. A positive test imposes a burden on family relationships
and threatens educational and other life choices. Testing a young
child is not recommended because it may rob the child of the right
to accept or reject knowledge of the future he or she faces.
Stop and Consider
What questions would you ask before agreeing to a genetic test to
evaluate your risk of a disease?
FAP
Familial adenomatous polyposis (FAP) is a disease for which genetic
testing can provide useful information. Ninety-five percent of those
diagnosed with FAP have a dominant mutation in a gene, called the
APC gene. Most will develop colon cancer between the ages of 35
and 45, if not properly treated, usually with removal of the colon.
Children of an affected individual have a 50% chance of inheriting
the mutation. Routine examinations of the colon for polyps after
the age of 12, and surgical removal of the colon when polyps appear,
can greatly reduce the risk of developing colon cancer. People can
survive without the colon. The remaining end of their digestive tract
is attached to an opening created on their abdomen, and feces empty
into a bag attached there. The procedure, called an ostomy, allows
people to live long and essentially normal lives. There are some drugs
that may reduce the development of polyps in people with FAP.
These are difficult choices to put before a child, choices that may
forever change the way that child has bowel movements, rigged with
a plastic bag that holds feces. However, knowledge in this case may
be life-saving.
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