ROBERT SIEGEL, host:
From NPR News, this is All Things Considered. I'm Robert Siegel.
MELISSA BLOCK, host:
And I'm Melissa Block. We're going to return now to a topic from yesterday's program, genetic testing, which can help determine your risk for breast or ovarian cancer. We asked for your questions on the topic. In a moment, we'll put some of them to an expert from the Dana-Farber Cancer Institute.
The story we heard yesterday was about the Gilmore family and their experiences with genetic testing. For them it raised as many questions as answers. Susan Gregg Gilmore watched her mother-in-law die from ovarian cancer, and then urged her husband to get tested for the genetic mutations that have been linked to breast and ovarian cancer. The Gilmores have three daughters and they worry the girls might have inherited the defective gene. Susan Gilmore recalled the doctor's preview of what it would mean for her husband to get tested.
Ms. SUSAN GREGG GILMORE (Novelist): I remember her saying, well, have him tested first. If he doesn't have it, then you don't have to worry about it. If he has it, then you'll need to have the girls tested at some point. And then, well, you know, if they have it, they just will need to have a complete hysterectomy and a double mastectomy by the time they're 40.
BLOCK: As it turned out, Gilmore's husband had inherited his mother's genetic mutation. Susan Gilmore was also tested and found she had a different mutation of what was called undetermined significance. Both results forced difficult decisions for the entire family.
These are worries that touch many families, and we want to answer some of your questions now about genetic testing. Dr. Judy Garber directs the Cancer Risk and Prevention Program at the Dana-Farber Cancer Institute. Dr. Garber, welcome to the program.
Doctor JUDY GARBER (Director, Cancer Risk and Prevention Program, Dana-Farber Cancer Institute): My pleasure to be here.
BLOCK: And before we go to our first question from a listener, why don't we lay out the basics here. We're talking about two genes, BRCA1 and BRCA2, and it's mutations on those genes that increase the chance of developing breast or ovarian cancer.
Dr. GARBER: That's correct. We all inherit two copies of BRCA1 and BRCA2. But when one of those genes, either BRCA1 or two has a mutation, it makes it easier for cancer to develop in certain organs.
BLOCK: And one of the main questions is how much of an increased risk this mutation poses? We got a letter on this from Laura Peters in Ithaca, New York and she said, when it is reported that a genetic mutation can increase the risk of breast cancer up to 85 percent, what does that mean, and why is the lower range of that figure not quoted as well?
Dr. GARBER: In the general population, the risk of breast cancer is about 12 percent over a lifetime that means to age 90. And the risk of ovarian cancer is just over one percent. For a woman with a BRCA1 or two mutation, the risk of breast cancer is 50-85 percent. That's the range in general, and that means that over her lifetime, there's a much higher chance, five or eight-fold, that she will develop cancer compared to someone else.
And part of the problem is that much of that risk is in women before age 50 when they certainly are at less risk in the general population. The chance of getting breast cancer by 50 is only two percent. But with the mutation, it's almost 50 percent and those ranges are quite large. In any one year the risk is small, but they do add up. And the risk of ovarian cancers are different for BRCA1 versus BRCA2. With BRCA1, the risk is 40-60 percent. With BRCA2, 15-20 percent, but even that is quite high compared to one percent.
BLOCK: You can imagine that we got a lot of letters from people talking about their individual family histories, and I want to play a question here from Martha Bates from Kings Port, Tennessee.
(Soundbite of call)
Ms. MARTHA BATES: I'm 58 years old. Five years ago, my mother died of ovarian cancer. Her mother died in her early 30s of an unknown origin. Two of my aunts had breast cancer. Should I get the BRAC testing? Thank you.
BLOCK: Dr. Garber, any advice for Martha Bates there?
Dr. GARBER: Well, that certainly is a family with an impressive concentration of breast and ovarian cancer. I would say for Martha, if possible, ideally you would test one of the family members who has had breast or ovarian cancer. So if one of her aunts is living, that would be the place to start. If a mutation were found, then the rest of the family could be tested just for that mutation. If no one is living, then Martha could well be tested and if a mutation were found, she would then be the person whose information would influence the rest of the family.
Now many people don't have a strong family history as Martha does, and we advise people to think about testing if the information would be helpful to them, if the family does have a close relative with ovarian cancer or a close relative with breast cancer at a young age, under age 40 let's say, or multiple family members as Martha does with breast or breast and ovarian cancers.
BLOCK: And who would you say should not get tested?
Dr. GARBER: That's a complicated question.
Dr. GARBER: Breast cancer is a very common disease in our culture, and many women have a family history of breast cancer in a close relative. However, most breast cancer is not related to BRCA1 or BRCA2. So if the family has one member with breast cancer, let's say after age 50 when breast cancer is much more common, at least a family with other women in it who've avoided the disease, this information will be less informative. I think also people who would find the information overwhelming, at least should not be tested now. They should wait until they feel that this information would be empowering and useful to them.
BLOCK: We got a question from Valerie Miller in York, Pennsylvania asking how much do the tests cost and does insurance pay for the tests?
Dr. GARBER: So the full analysis of BRCA1 and BRCA2 now costs about $3,000 and most insurance policies do cover genetic testing or at least a substantial portion of it. But 20 percent of a $3,000 test is still an expensive test for many individuals. The testing laboratory will not do the test until they're sure that they will be paid, so they and their patients make sure that the insurance will cover before the test is performed.
BLOCK: Mm hmm. We did have a lot of listeners asking whether a positive result from a genetic test like this would jeopardize their insurance coverage, would it?
Dr. GARBER: Well, health insurance has been largely protected at the state level in most states and by the GINA Law, the Genetic Information Non-discrimination Act assigned to this past year at the Federal level. Unfortunately, life insurance and disability insurance are not protected, and therefore people who would think about testing, should think about optimizing that kind of coverage before they have the test.
BLOCK: Can you keep a result like this out of your medical record?
Dr. GARBER: You know, we used to try to keep these from the medical record and try to protect privacy and confidentiality, but in fact, this is important information for someone's health and for their health care. So you don't want to keep this out of the record. You want it to just be safe from discrimination, and I think it's not possible really to keep it out of the record, so people who have had tests anonymously as Snow White, for example, in the end don't really accomplish very much.
BLOCK: I want to end with a question that looks toward the future, this came in from listener J.W. Snyder in Melbourne, Florida.
(Soundbite of call)
J.W. SNYDER: The question I have is what research is being done into correcting or repairing a defect in the gene? Is it on the horizon or light years away?
BLOCK: Dr. Garber, what's the answer on that?
Dr. GARBER: Mr. Snyder, that is a great question and I'm not sure I can answer it perfectly. I don't think we can yet look forward to repairing the gene. These genes are altered in every cell in the body and that is a tall order. But we certainly are trying to find ways to safeguard the integrity of the other gene, the second copy, the normal gene that is protecting the cells when it's functioning normally.
And there's a lot of work going on trying to make sure that these genes which are active in repairing errors in the DNA, fixing genes to keep them from making their own mistakes and letting cancer happen. There's a lot of work trying to make sure that we are protecting those genes and that may be a better strategy for the short-term.
BLOCK: Well, Dr. Garber, thanks very much for sorting through these questions with us.
Dr. GARBER: My pleasure.
BLOCK: Dr. Judy Garber directs the Cancer Risk and Prevention Program at the Dana-Farber Cancer Institute in Boston. If you missed yesterday's story about the Gilmore family's experiences with genetic testing, you can hear it at npr.org. You'll also find a link to the National Cancer Institute's fact sheet on genetic testing.
SIEGEL: You are listening to All Things Considered from NPR News.