Genetic counseling has not been discussed in this chapter, but it is a service provided by trained professional counselors who also have detailed knowledge of medical genetics, as described in Application Chapter A. Genetic counselors provide details about gene mutations and have knowledge of most of the details of diseases associated with genetic abnormalities. With regard to genetic testing to identify one's personal risk of cancer, what are the three or four topics you think are most important to be able to discuss with a genetic counselor?

Key Concepts

Genetic Testing

Genetic testing involves analyzing an individual's DNA to identify mutations or variations that may increase the risk of developing certain diseases, including cancer. This process can provide valuable information about inherited conditions and help individuals make informed decisions regarding their health and lifestyle. Understanding the types of tests available and their implications is crucial for effective communication with a genetic counselor.

Gene Mutations

Gene mutations are changes in the DNA sequence that can lead to alterations in gene function and may contribute to the development of diseases, including various forms of cancer. Some mutations are inherited, while others can occur spontaneously. Knowledge of specific mutations, such as BRCA1 and BRCA2, is essential for discussing personal cancer risk and preventive measures with a genetic counselor.

Risk Assessment

Risk assessment in genetics involves evaluating an individual's likelihood of developing a disease based on their family history, genetic test results, and other risk factors. This process helps identify individuals who may benefit from increased surveillance or preventive strategies. Understanding how risk is calculated and communicated is vital for patients to engage meaningfully with genetic counselors about their health.