The recent announcement of Angelina Jolie Pitt’s removal of her ovaries and fallopian tubes after showing early signs of ovarian cancer has women across the nation thinking about genetic testing for cancer. Some doctors describe ovarian cancer as one of the most deadly due to its late-stage discovery, which limits treatment options.
Genetic testing for cancer syndromes has been prominent in the medical world in recent years. Genetic mutations that occur during a person’s lifetime or are inherited from their parents often play a role in cancer development.
According to the National Cancer Institute, five to 10 percent of all cancers are inherited mutations. Genetic testing looks for specific inherited mutations in a patient’s genes, proteins and chromosomes. After preliminary consultations with doctors, patients undergo several steps prior to the actual genetic testing. According to the American Cancer Society, a patient’s risk assessment is taken, measuring reasons for genetic testing, family history, lifestyle factors and other early detection practices.
Genetic counseling follows risk assessment, where trained counselors provide information about testing, allowing the patient and the family to decide upon the matter. For instance, a counselor might guide the patient toward possible lifestyle changes or signs and symptoms of the cancer if the testing shows they are at high risk.
Then, the patient will be asked for informed consent in writing, leading to final specimen collection and lab testing. Testing can include samples of blood, cheek cells, urine, amniotic fluid or other body tissues. Final test results are sent in to medical labs for analyses, which are then sent to doctors or genetic counselors to convey to patients.
Pitt consented to surgery after realizing her genetics combined with her family history could be a risk to her life. Not only did she test positive for the BRCA1 gene mutation, a gene implicated in ovarian cancer, but she also lost her mother, grandmother and aunt to cancer.
After realizing the surgery would put her into menopause, Pitt came to terms with the physical and emotional repercussions of the surgery. Her consultations with both Eastern and Western doctors concluded that removal of both tubes and ovaries would be the best option. Pitt had pre-planned the surgery to take place within the upcoming months. However, a recent blood test showed markers for early cancer signs, urging her to undergo surgery sooner than expected.
Some have dubbed the effects of Pitt’s announcement as the “Angelina Effect.” Experts have displayed different responses to this movement. Some experts say that her public declaration will lead to greater anxiety and unnecessary tests. The Hollywood star does make note that not all positive testing results for the BRCA gene should lead to immediate surgery.
Meanwhile, other cancer specialists praise Pitt for increasing awareness about genetic testing and prophylactic surgery. Although every cancer situation is different and unique, Pitt has some women thinking ahead.
Dr. Susan Domchek at the University of Pennsylvania’s Basser Research Center tells The New York Times that removal of ovaries and fallopian tubes is strongly recommended for women before the age of 40 who are BRCA1 and BRCA2 mutation carriers in order to prevent the development of ovarian cancer.
