Cancer Genetic Counseling in Practice

Genetic Condition: Hereditary Breast Cancerangelina-jolie.jpg

 

Patient: Angelina Jolie (1975 - present)

 

Angelina Jolie is referred to a genetic counselor by her doctor because she has a family history of breast cancer. Her mother developed breast cancer at the young age of 46 and died of it at the age of 56. Ms. Jolie wants to know if she might have inherited a gene mutation that puts her at high risk to develop breast or ovarian cancer.

 

What will the Genetic Counselor do?

  • Take a detailed medical history and family history of Ms. Jolie, specifically asking about who has had cancer in her family, what types of cancers, and at what ages.
  • Examine Ms. Jolie’s family history to look for clues that she might be have inherited a gene that puts her at higher risk of developing breast cancer.  For example, a clue might be if many members of Ms. Jolie’s mother’s side of the family had breast cancer at an early age (under age 50). These clues help a genetic counselor figure out if genetic testing is an option for a patient.
  • Educate her on genetics, inheritance and how these relate to hereditary cancer.
  • Explain to Ms. Jolie that based on the clues in her family history, she can consider genetic testing to see if she inherited a gene mutation that puts her at high risk to develop breast or ovarian cancer.
  • Talk to her about her genetic test options. Explain how the test works, which genes are being tested (BRCA1 and BRCA2), what she will learn from the test results, and the pros and cons of taking the test and finding out this information.
  • Order the test to be done.
  • Wait for test results to come back (typically 3 weeks).

 

Ms. Jolie’s genetic test results come back showing that she carries a gene mutation in the BRCA1 gene which puts her at high risk for developing both breast and ovarian cancers.

 

What does the Genetic Counselor do now?

  • Tell Ms. Jolie what her test results are and what they mean for her cancer risk.
  • Review with her how a gene mutation can be passed down in families and who else in her family may be at risk for cancer.
  • Go over all of Ms. Jolie’s options to help keep her healthy, which includes more frequent breast cancer screening, risk-reducing medications, and surgery.
  • Tell her about the different doctor specialists that she should see.
  • Give advice on how to talk to her family members about this news.
  • Provide emotional support.

 

How did seeing a genetic counselor help Ms. Jolie?

  • A person with a BRCA1 gene mutation has a much higher risk of developing breast and ovarian cancer. By learning that she carried this gene mutation, Ms. Jolie was able to make informed choices to keep herself healthy. In May 2013, she wrote an article explaining her choice to have a surgery called a mastectomy, which according to her doctors, reduced her risk of developing breast cancer from 87% to less than 5%.

 

She would not have made this potentially life-saving decision without the help and support of a genetic counselor.