Genetic counselor discusses Jolie, cancer risks

pramati@macon.comMay 16, 2013 


Christine Delaney, the only genetic counselor between Macon and Savannah, answered questions Thursday about who should have genetic testing done.


With the revelation earlier this week that Academy Award-winning actress Angelina Jolie underwent a double mastectomy in February because of her family history of breast and ovarian cancer, it raised the profile of genetic testing and having surgery as preventative measures in the fight against cancer.

Christine Delaney, a certified genetic counselor at The Medical Center of Central Georgia, is the lone specialist in her field in Middle Georgia and surrounding counties. On Thursday afternoon, she answered questions about who should be tested for genetic defects and the range of options for patients.

QUESTION: Tell us a little about the process that Angelina Jolie has undergone.

ANSWER: From everything I can tell, she had a family history of breast and possibly some ovarian cancer, and so she went either to her doctor or a genetic counselor and was interested in knowing if that cancer in her family was inherited, if she potentially inherited a risk for it as well. Typically in a genetic counseling session, you go through the patient’s personal history as well as draw out their family tree and take a look at what cancers are in the family. And from there, you can educate the patient if they have a chance of having an inherited syndrome, what that chance (for cancer) is.

From that, they can do genetic testing to take a look at genes we know cause an increased risk for cancer. (The family of) Angelina Jolie had a history of breast and ovarian cancer. The BRCA1 and BRCA2 genes cause an increased risk of breast and ovarian cancer. She was a candidate to have that genetic testing done. ... She was found to have a BRCA1 mutation. She tested positive for that.

QUESTION: Is there a threshold percentage for a person to consider getting tested?

ANSWER: Generally, we say that if you’re within 5 or 10 percent of having a gene mutation or beyond that, genetic testing is probably a good idea. Every insurance company has their own criteria for testing, as far as what family members qualify for testing, what kind of family history you have that would qualify for testing, things like that.

QUESTION: Do you recommend testing for everyone or just for people who have a family history of cancer?

ANSWER: Definitely not everyone. There’s only about 5 or 10 percent of breast cancer (or) ovarian cancer (that) is going to be inherited, so the people who have only once case of breast cancer (from a relative who is in her) 70s or 80s, probably are not a good candidate for the genetic testing. Someone who has multiple relatives with breast and ovarian cancer especially at younger ages, namely under age 50, would be much better candidates for that testing. They have a much higher risk. ... It’s really very important for everyone to look at their family history, bring it up with their doctors. There are screening tools that are online now on multiple websites where you enter in your family history, and they can tell you if you’re at a high risk of having something else going on that’s inherited.

QUESTION: Angelina Jolie’s condition is related to breast and ovarian cancer, but do you look to test for other conditions as well, such as prostate cancer?

ANSWER: Prostate cancers can be associated with those BRCA genes. Pancreatic cancers, colon cancers -- not with those BRCA genes as much. But there are other cancers that are associated with BRCA -- inherited colon cancer syndromes, inherited thyroid cancer syndromes, uterine cancers ... stomach cancers. There’s a lot of types of cancer that can be inherited, especially if you’ve got a family history or if it’s a really rare type of tumor.

QUESTION: Since the news broke, have more people been inquiring about this?

ANSWER: It’s been a little bit delayed, but I expect a little bit more in the next couple of weeks. I know there are a lot of hospitals in Atlanta that saw a large number of referrals when that news broke.

QUESTION: The choice that Jolie made to have the double mastectomy and have her ovaries removed later, she was healthy as far as we know. Is that more of an accepted practice now to have a pre-emptive surgery?

ANSWER: In the situation where you’re BRCA positive, you have an 87 percent chance of developing breast cancer at some point in your life. I usually quote to patients that it’s about a 50-50 choice. About half of the patients going in (are) kind of like Angelina Jolie, where they have a family history but don’t have a personal history of cancer diagnosis. About 50 percent of them will go on to do just increased screenings, more mammograms than normal, more MRIs than normal, more clinical breast exams than normal. And about 50 percent will go ahead and have a more preventative surgery, where they can really reduce that 80 percent (chance of developing cancer) down to 1 or 2 percent. ... Having the ovaries removed before the woman goes into menopause also reduces the risk of breast cancer.

For more information, including an online tool that assesses a person’s genetic risk for cancer, visit

To contact writer Phillip Ramati, call 744-4334.

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