The recent proclamation by Angelina Jolie to have a preventive double mastectomy has opened the conversation about genetic counseling and the BRCA gene.
In an opinion piece written by Jolie for The New York Times in May, Jolie said she carries the BRCA1 gene which increases her risk of breast and ovarian cancer.
"My doctors estimated I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer," Jolie said.
She said her mother died at age 56 of breast cancer and her aunt died just recently of the same disease.
Jolie chose to be proactive and minimize the risk of breast cancer since that has a higher risk than ovarian cancer.
St. Luke's University Health Network sponsored a Women's Cancer Risk Forum recently with Dr. Lee B. Riley, Dr. Nicholas Taylor and Genetic Counselor Andrea Smith.
Riley is the medical director for St. Luke's Cancer Center and chief, surgical oncology at St. Luke's University Health Network. Taylor is section chief, gynecologic oncology, St. Luke's University Health Network.
In addition to the medical staff, patient Luz Brandon, of Bethlehem, shared her story, which was very similar to Jolie's.
Last year, when Brandon began a running program, she noticed her sciatic nerve pain seemed to get worse.
She mentioned it to the orthopedic doctor she works for, saying she felt something wasn't right.
A CAT scan revealed Stage 3 ovarian cancer, which had spread to her abdomen. She had 12 weeks of chemotheraphy which she said "was rough; it was a nightmare."
Last September, Brandon had a radical hysterectomy along with tumor debulking.
Knowing cancer runs in her family, she discovered she had the BRCA gene with a 60 to 80 percent chance of developing breast cancer. She also elected to have a double mastectomy.
"If I would have known [she had the BRCA gene], I would have had my ovaries removed after my kids. I would have done anything to prevent what I went through. This was unexpected. At age 40, you don't expect to be diagnosed with cancer."
Brandon said years ago cancer was a death sentence.
"I kept saying, 'what am I going to do,'" she said. Brandon went to work every day and tried to remain positive.
"Educate yourselves," Brandon told the attendees of the forum. "It is so important. I am so happy I can sit here and talk about this."
Talk about cancer risk within families still seems to be a topic not easily broached.
The National Cancer Institute describes both BRCA1 and BRCA2 as human genes that belong to a class of genes known as tumor suppressors.
In normal cells, BRCA1 and BRCA2 help ensure the stability of the cell's DNA and help prevent uncontrolled cell growth. Mutation of these genes has been linked to the development of hereditary breast and ovarian cancer.
A woman's lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2.
Men with harmful BRCA1 or BRCA2 mutations also have an increased risk of breast cancer and possibly pancreatic cancer, testicular cancer and early onset prostate cancer.
Smith said only 10 percent of all breast cancers are attributed to the BRCA gene. There are many other factors, many having to do with the history of cancers in the family.
The panel said genes are passed down through families, and genetic counselors look at both sides of the family history.
Smith said genetic counseling is done at no charge at St. Luke's University Health Network.
Genetic testing has a charge associated with it and is done with either blood or saliva samples.
Smith said testing is most informative when first performed on a family member who has cancer, and does not provide information about other conditions or risks.
She said the cost is often covered by insurance and test results take approximately two to three weeks.
The panel also cautioned patients from using the online genetic testing options as they may not be appropriate or as thorough. They said to talk to a genetic counselor before pursuing those options.
Riley said patients are presented with various options if testing is postive for the gene, which include being placed in a high risk screening program with more frequent exams and MRIs.
The doctors said ovarian cancer is very hard to catch early; currently there is no screening for ovarian cancer.
There is a trial underway in England but they said it is still three or four years away. Most cases occur before age 50.
There is a 1.4 percent risk of ovarian cancer for the general population; if you have cancer in the family, you could have an elevated risk.
Smith said if a parent tests positive for the BRCA gene, there is a 50/50 chance for the child to have it as it could skip over a generation.
Regarding breast cancer, Riley still recommends a mammogram every year.
"St. Luke's looked at the data and said if they didn't do the mammograms every year, 45 people would not have been diagnosed with cancer. If a diagnosis is delayed for two or three years, there is a harm," Riley said.
Riley also said the average age for breast cancer is 65. Most women who have ovarian cancer without a harmful gene are diagnosed in their 60s.
The National Cancer Institute says a person's genetic information is considered health information and is covered by the Privacy Rule of the Health Information Portability and Accountability Act (HIPAA) of 1996.
In 2008, the Genetic Information Nondiscrimination Act (GINA) became federal law which prohibits discrimination based on genetic information in relation to health insurance and employment but the law does not cover life insurance, disability insurance and long-term care insurance.
It was suggested by attendees that insurance be acquired before obtaining the genetic testing.
"Testing can be a lifesaving event for family members," Taylor said.
For Jolie, she said her decision for a double mastectomy was not easy but one she was happy that she made.
"My chances of developing breast cancer have dropped from 87 percent to under 5 percent. I can tell my children they don't need to fear they will lose me to breast cancer," Jolie said.
If you had the power to save your life or that of a family member by undergoing genetic testing, would you do it?
The days of keeping the diagnosis of cancer under wraps are gone. The conversation should take place within families to determine family history and risks.
I applaud Jolie for making this decision.
We can't afford to lose grandparents, parents and other family members to these diseases when, if caught early enough with testing, can be treated and allow us more time with our loved ones.
East Penn Press