In certain cases, genetic testing can identify mutant alleles that greatly increase a person's chance of developing a disease such as breast cancer or colon cancer. Between 50 and 70% of people with these particular mutations will develop cancer, but the rest will not. Imagine you are either a 30-year-old woman with a family history of breast cancer or a 30-year-old man with a family history of colon cancer (choose one). Each person can undergo genetic testing to identify a mutation that greatly increases susceptibility to the disease. Putting yourself in the place of the person you have chosen, provide answers to the following questions.

If you have a spouse or partner, are you obligated to tell that person the result of the genetic test? Why or why not?

Key Concepts

Genetic Testing

Genetic testing involves analyzing an individual's DNA to identify mutations or variations that may indicate a predisposition to certain diseases. This process can reveal the presence of mutant alleles associated with increased risks for conditions like breast or colon cancer. Understanding the implications of these results is crucial, as they can influence personal health decisions and family planning.

Informed Consent and Disclosure

Informed consent is the process by which individuals are educated about the risks, benefits, and implications of genetic testing before undergoing the procedure. Disclosure refers to the ethical obligation to share test results with relevant parties, such as a spouse or partner, especially when the information could impact their health decisions or familial risk. Balancing personal privacy with the duty to inform is a key ethical consideration.

Genetic Predisposition vs. Penetrance

Genetic predisposition refers to an increased likelihood of developing a disease based on genetic factors, while penetrance describes the proportion of individuals with a specific mutation who actually exhibit the disease. In the context of the question, understanding that not everyone with a mutation will develop cancer (50-70% penetrance) is essential for evaluating the implications of test results and the decision to disclose them to a partner.