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Family Struggles With Ambiguity Of Genetic Testing

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Family Struggles With Ambiguity Of Genetic Testing

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Family Struggles With Ambiguity Of Genetic Testing

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ROBERT SIEGEL, host:

From NPR News, it's All Things Considered. I'm Robert Siegel.

MELISSA BLOCK, host:

And I'm Melissa Block. We often hear that knowledge is power. Well, today, we have the story of a family that found the saying is not always true. The Gilmore family rushed into genetic testing, which can determine whether you are at risk of cancer, only to find that each test result raised new, unsettling questions. NPR's Deborah Franklin met this family while she was a fellow with the Kaiser Family Foundation. As she reports, even the best genetic tests can produce uncertain results, and that knowledge can force some tough personal decisions.

DEBORAH FRANKLIN: Susan Gregg Gilmore was never all that interested in science. She's 47 years old and healthy, a successful novelist, married to the man she loves, mother of three healthy girls. Genetic testing wasn't even on her radar.

Ms. SUSAN GREGG GILMORE (Author): I was very happy living in this world of words and, you know, feelings and emotions and color, and that was more my schtick. And I just honestly didn't think about it much, not until my mother-in-law was diagnosed with breast cancer.

FRANKLIN: And then, just 18 months later, with ovarian cancer. Now, Susan loved her mother-in-law very much. Martha Gilmore was curious about the world and a great listener. She was one of the first women ordained as a minister in the state of Texas.

Ms. GILMORE: She was always a pioneer. And I was very drawn to her from the beginning, and we just shared a lot of things - very close, free emotional relationship. I never - and I told her this - I never once felt like your daughter-in-law, I always felt like your daughter.

FRANKLIN: One day, between visits to the doctor for chemotherapy, Martha called to talk about a medical test that wouldn't change her own treatment, but maybe the outlook for her granddaughters. It was a genetic test, kind of pricey - about $3,000. Still, Martha was considering taking it.

She explained to Susan, the test looks for certain mutations in two long genes, known as BRCA1 and BRCA2. If you have a bad mutation, the gene doesn't work right, and you're more likely to get breast cancer or ovarian cancer or both. If Martha had inherited this faulty gene, there was a 50-50 chance that she had passed it along to her son and maybe, through him, to her granddaughters. Susan was convinced.

Ms. GILMORE: I actually remember talking to her on the phone and saying, Martha, you've got to do this. I mean, information is knowledge and power, and we have three daughters. We need to know. So, I was very encouraging. Go, go, yes, yes, we need to know.

FRANKLIN: Susan's mother-in-law got the test. And she did turn out to have one of the mutations in the BRCA1 gene that's been strongly linked to cancer.

Ms. GILMORE: And when she called, she was just devastated, in tears, and her sadness was for her granddaughters.

FRANKLIN: Still, the girls were only in their teens and might not even have the gene. It didn't seem the time to be anxious about their future. Though Martha had survived her battle with breast cancer, the ovarian cancer was killing her. Susan was at her mother-in-law's bedside when Martha died.

Ms. GILMORE: It got to the point where we really could only communicate by looking at each other. And then, in the last day, I hoped that she knew that we were all there and surrounding her. I believe she did, but, you know, you don't really know for sure at that point.

FRANKLIN: You could say that's when Susan inherited a fear of ovarian cancer from her mother-in-law, along with a determination never to get the disease and to keep her daughters safe. Though already slim, she started swimming several times a week to help with the stress and pushed the family to eat better, hoping that would reduce their risk. Her husband was dragging his feet about genetic testing, but soon after the funeral, Susan went to the doctor herself and got a preview of what they would face once her husband was tested.

Ms. GILMORE: 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. And then I left and came home in tears, and said to my husband, who I'd been begging for months now, have this testing done, you must do this genetic testing. Look, this is what we're dealing with.

FRANKLIN: Her husband, Dan Gilmore, is a lawyer, a marathon-running former marine, handsome and steady. Dan says he hadn't hurried off to get tested because he was still raw from his mom's illness and death.

Mr. DAN GILMORE (Attorney): For the longest time, I just didn't want to even consider the fact, this is something I need to deal with. And I think a lot of that was not wanting to face the potential of having to deal with this with my daughters for the rest of my life and their life.

FRANKLIN: In hindsight, everybody agrees that they should not have gotten into genetic testing so soon after Martha died. Dan did get tested, and he got the results a few weeks later. Susan was out of town.

Mr. GILMORE: I called from the clinic and told her, and she just fell apart.

FRANKLIN: Dan told her he had inherited his mother's mutation.

Mr. GILMORE: It really threw us for a loop. We were not prepared, I think, emotionally, for it as well as we should have been.

FRANKLIN: Susan started running the numbers. The news meant that Dan's risk of getting breast cancer was only about seven percent. But if the girls had inherited the faulty gene, their risk of breast cancer could jump as high as 85 percent, with as much as a 50 percent risk of getting ovarian cancer. Susan started questioning everything, and Dan focused on holding his family together.

Mr. GILMORE: My tendency is to kind of jump in and say OK, I have to be functional for both of us. I have to maintain my normal routine and have to just, you know, keep going to work and just stay in my routine, then I'm kind of insulated from this new turn in our lives.

FRANKLIN: Now, you could argue that Dan's test result really only had implications for him and his daughters. But as the couple reached out for more information, Susan started wondering about her own DNA.

Ms. GILMORE: You know, as we're sitting there with a genetic counselor plotting out our family tree - his family tree, his family tree - I'm kind of looking, you know, at that tree and putting my own family members on the branches and realizing that there's some missing branches.

FRANKLIN: And something else that terrified her. Susan had one aunt who'd suffered a chronic disease of the ovaries and eventually died of ovarian cancer. As for gaps in the family medical history...

Ms. GILMORE: My mother's mother had died at a very young age, in her early 30s, and no one seemed to know why. To be so vague about how someone in our family, I mean, my mother's mother died, that puzzled me and bothered me.

FRANKLIN: According to family lore, she may have died from a botched abortion. Others said it could have been cancer. The counselor tried to reassure Susan it was extremely unlike that she'd inherited a worrisome mutation, but Susan wanted to take the BRCA test, just to be sure. Dan was hesitant.

Mr. GILMORE: My first thought was, does she really need to? And are the chances of her having the mutation - are they significant enough to warrant it? And pretty soon after that, my thought was, this is a good thing because chances are she doesn't have it. This will sure be nice to be able to rule this out.

FRANKLIN: Susan says she wanted the girls to have their full medical history, plus...

Ms. GILMORE: Maybe somewhere hidden there was a little bit of I want to prove that, you know, from my side of the family…(Laughing)…we're perfect. You know, there's a lot of crazy emotions that are flying around when you're dealing with all this.

FRANKLIN: So, she got the test and a week or two passed by.

Ms. GILMORE: I walked out of the Y that day. It was a beautiful day. It was crisp. It was clear. And I remember standing in the parking lot thinking, I feel good. And for once, in months, I do not feel like cancer is going to control my life, or even the thought of cancer or the fear of cancer. And not even five minutes later, I get a phone call.

FRANKLIN: It was her test results. Susan still winces just remembering the genetic counselor's words.

Ms. GILMORE: Hi, Susan, how are you? Where are you? And I just - then she started talking about this variant - this variant of undetermined significance and how it shouldn't change my life or my medical plan. But, you know, all I could hear was variant, variant, and it wasn't really making sense. And it felt overwhelmingly gray.

FRANKLIN: She'd been counting on good news or at least a clear thumbs up or thumbs down. But as the counselor explained, a mutation of undetermined significance turns up maybe 10 percent of the time among people who get this test. It could be harmless or not. At this point, nobody knows.

Ms. GILMORE: And I thought, can we not catch a break here in this genetics game? What is this variant? And quit telling me it's of undetermined significance, because I can tell you right now, it is feeling extremely significant.

FRANKLIN: What she really wanted to know was should she have her ovaries out? Searching for an expert who would tell her yes or no, Susan called Beth Peshkin. She's a genetic counselor and researcher at Georgetown University's Lombardi Comprehensive Cancer Center.

Ms. BETH PESHKIN (Senior Genetic Counselor and Associate Professor, Oncology, Lombardi Comprehensive Cancer Center, Georgetown University): I totally relate to the frustration because I think, as clinicians, we would like to have more definitive answers as well.

FRANKLIN: Peshkin told Susan that, these days, many people have to deal with a BRCA test result that is ambiguous, for one reason or another.

Ms. PESHKIN: In this case, it really came down to it doesn't look as though, based on your family history or your test result, that you're at increased risk for ovarian cancer. But you're very worried about this disease. There isn't good screening for this disease. We can't tell you conclusively what your risk is, so it really did have to be her decision.

FRANKLIN: Susan wasn't comforted by the statistics about the disease, either.

Ms. GILMORE: Doctors can tell me ovarian cancer is very rare. But then I can say, you know, I've known more people with ovarian cancer than breast cancer. I have held the hand of a woman dying of ovarian cancer. So - and in my reality, ovarian cancer is very present.

FRANKLIN: So last June, Susan had her healthy ovaries removed. Dan supported his wife's decision, and Susan says she doesn't regret the surgery for a minute. She's not at risk for ovarian cancer anymore. Genetic counselor Beth Peshkin...

Ms. PESHKIN: In the end, is she better off for having gotten the testing? I don't know. In some ways, probably yes; in some ways, probably no. But this is what it is to live with uncertainty, and some people have more of a difficult time dealing with the uncertainty than other people.

FRANKLIN: Susan and Dan believe they've been good role models for their daughters. They were supportive when, earlier this fall, their eldest, 21-year-old Claudia decided to get tested. She has inherited Dan's mutation. For now, that just means extra breast exams for her. Dan says genetic testing for the other girls can wait.

Mr. GILMORE: There's a whole ethical issue of them having a choice in it, and we really felt like they need to have - be old enough to decide on their own, to make a fully informed decision on their own.

FRANKLIN: Susan says she's content with all the decisions so far, but she's in no big rush to sign up for genetic tests for other diseases.

Ms. GILMORE: I mean, this year alone, you know, all the genetic testing that my husband's done, my mother, my daughter, myself - I'm kind of done. I mean, I want a year off from empowering knowledge. At some point, you've got to go out there and live life.

FRANKLIN: Deborah Franklin, NPR News.

(Soundbite of music)

BLOCK: It's not uncommon for people to get genetic testing and find themselves, like the Gilmore family, with more questions than answers. Well, we'd like to hear your questions about genetic testing for breast and ovarian cancer, and we'll get you some answers. You can send your questions by going to npr.org. Click on contact us at the top of the page. Please be sure to put the phrase "genetic testing" in the subject line. And tomorrow, we'll put some of your questions to an expert from the Dana-Farber Cancer Institute.

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