In 2013, actress Angelina Jolie revealed in a New York Times op-ed that she had undergone a preventative double mastectomy after learning she carried a mutation in the BRCA1 gene, which greatly increases the risk of breast and ovarian cancer.

Her mother had died of ovarian cancer at the age of 56, and Jolie had decided to take her health into her own hands by being proactive and having the surgery.

This decision sparked a national conversation about genetics and cancer prevention, and it also brought attention to a relatively new field of medicine: genetic testing for cancer risk.

What is Genetic Testing?

Genetic testing is the use of medical tests to identify changes in genes, chromosomes or proteins. It can be used to diagnose a genetic disorder or to determine the likelihood of developing a disease later in life.

In some cases, genetic testing can be used to identify inherited mutations that increase the risk of certain types of cancer, such as those in the BRCA1 and BRCA2 genes.

Genetic testing can be done through a simple blood or saliva test. The results can provide important information about your risk of developing certain diseases and can help guide medical decisions.

Angelina Jolie’s Experience

Jolie’s decision to undergo a preventative double mastectomy was not an easy one. She had lost her mother to ovarian cancer and did not want her own children to go through the same experience.

After testing positive for the BRCA1 gene mutation, Jolie decided to take action and have the surgery to greatly reduce her risk of breast and ovarian cancer.

After her double mastectomy, Jolie wrote about her experience and encouraged other women to consider genetic testing if they have a family history of cancer.

She also noted that genetic testing is expensive and may not be covered by insurance, which can limit access for some women.

Advantages of Genetic Testing

Genetic testing can have several advantages for individuals and families at risk of inherited cancer:.

Early detection and prevention: Genetic testing can help identify individuals at a higher risk of developing cancer. This can help doctors develop a tailored screening plan to detect cancer early or even prevent it from occurring.
Empowerment: Knowledge about genetic risk can empower individuals to make informed decisions about their health, including whether to undergo preventative measures such as surgery or increased screening.
Family planning: If a genetic mutation is found, family members can be tested to identify if they also carry the mutation and may be at risk of developing cancer.

Limitations of Genetic Testing

While genetic testing can offer many advantages, there are also limitations to consider:.

Psychological impact: Learning that you carry a high-risk genetic mutation can be emotionally difficult and may cause anxiety or depression.
Uncertain results: Genetic testing cannot predict with complete accuracy whether an individual will develop cancer. A negative result for a known mutation does not completely rule out the risk.
Ethical concerns: Genetic discrimination in insurance and employment has been a concern in the past, although laws have been passed to prevent this type of discrimination.
Cost and accessibility: Genetic testing can be expensive and may not be covered by insurance, which can limit access for some individuals and families.

Genetic Counseling

Before undergoing genetic testing, it is important to consider the potential benefits and limitations.

Genetic counseling can help individuals and families make informed decisions about whether to undergo testing, and can provide guidance on interpreting the results and managing potential risks.

Counselors can also provide guidance on how to share the information with family members and how to make informed decisions about future medical care.

Conclusion

Angelina Jolie’s decision to undergo a preventative double mastectomy after learning she had the BRCA1 gene mutation sparked a national conversation about genetic testing for cancer risk.

While genetic testing can provide important information for individuals and families at risk of inherited cancer, it is important to consider the potential benefits and limitations, and to seek advice from a genetic counselor.