Genetic Counseling: Examining the Possibilities

By examining genetic testing situations on a case by case basis, it becomes easier to see the potential advantages and disadvantages of screening. These case studies are from patients observed at the University of Pennsylvania medical centers.
Case Study 1: Kathleen is Tested for Apolipoprotein 4.

After many failed attempts to lose weight, Kathleen Clayton went to her doctor to find out whether her obesity could have a more complex cause than overeating. Kathleen's doctor had her tested for elevated levels of apolipoprotein 4, which is associated with weight problems. When an amount double that found in the normal person was detected, Kathleen was relieved that her weight problem was not altogether her fault. However, she now must deal with the fact that she is predisposed toward heart disease, another condition indicated by excess Apo4 in the blood. She has made several important lifestyle changes in order to prevent heart attack. However, since Kathleen was tested, researchers have linked elevated Apo4 levels to Alzheimer's Disease. Should she be told of her increased risk of suffering this fatal neurodegenerative disorder, even though she did not initially consent to be tested for Alzheimer's Disease?


Case Study 2: BRCA Screening in a Family.

Two sisters in a breast cancer family were tested for abnormalities in the BRCA1 gene because one sister had developed cervical cancer. She tested positive for BRCA1 mutations, while her healthy sister was free of any BRCA1 problems. The afflicted sister now feels anger and loneliness, and the bond between sisters has definitely been strained.


Please visit the site for a PBS special, aired recently, that discusses implications of genetic screening and what counselors are doing to help.
Next page: If I find out what is on my genome, will anyone discriminate against me?

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