Experiences with Genetic Testing
People with strong family histories of cancer may be offered genetic testing. Knowing the test results can help their health care providers advise them about risk and make recommendations about screening, prophylactic treatment, and other health care decisions. In the summary called ‘Deciding about Genetic Testing’, we describe how the tests work and how people we interviewed decided whether or not to get tested. This part of the website explores peoples’ experiences getting tested and receiving the results.
Preparing for Genetic Testing
Before getting tested, most of the people we interviewed talked with a genetic counselor. These conversations provide opportunities for the counselor to learn more about the person being tested and for the person being tested to learn more about genetic testing. Carrie describes the role of the genetic counselor as “explaining everything…and just helping us kind of through the process.” Asante, Chelsea and others note how much they learned about their own families after their genetic counselors started asking questions.
Asante notes that genetic counseling may encourage family conversations about health history.
Asante notes that genetic counseling may encourage family conversations about health history.
So I said “Dad, you have to tell me. You have to tell me, you know, what did your mom have? What did your dad have? Were there, you know, did you even have, is there any diabetes in your family? Is there anything in your family that I should know about?” Because I have this little boy, you know, who, who needs me. And, and for him, I need to know, you know. I feel like knowing that you have a history of diseases in your family, it might not prevent it because it's genetic, but you can definitely make healthy lifestyle choices.
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After I got the genetic testing, I discovered there is a lot of cancer in my family. My grandmother died of some type of cancer. You know, everyone says it was lung cancer, but we really don't know because we didn't talk. No one talked about it. I didn't know that my grandmother had passed away of cancer until very late in life, through talking to aunts. And my mother was the only child, so the information that she had kind of left with her. And then my father. On my father's side, my paternal grandmother had ovarian cancer. So when I told him about that RAD51D, he-- a light bulb went off in his head to let me know that, you know, in fact, my grandmother had ovarian cancer. And they passed away before I was born, so I never met them.
Cynthia’s genetic counselor provided some basic information about testing.
Cynthia’s genetic counselor provided some basic information about testing.
I met with a genetic counselor, and they discussed the pros to having the test. They talked about having a positive-negative and that type of thing, and what that all meant. And they talked about the different types of genetic testing, because you could do certain ones or a full panel. And different cancers are more prevalent in certain genetic markers. So we probably spent a good, I don't know, two hours with a genetic counselor going through things, having a complete understanding of what it meant.
Our topic summary on talking with family describes more about the important conversations that families have.
Eve’s genetic counselor walked her through her family history.
Eve’s genetic counselor walked her through her family history.
And basically, what happened was we went through my family tree, starting with my grandparents. And we talked about if they're still alive. No, they died at, you know, what age they died at, what did they die of. We talked about my parents, the health they were in, what health issues they've had. For example, I forgot my mom had uterine cancer in 2012. So she would have been, I don't remember, like 66. Yeah, she would have been 66 in 2012, or 65. This was before her birthday. So we did that. And then we went through, my parents are from, you know, Catholic Baby Boomer-boomer era family. So we went through, my dad has two brothers and three sisters, and all their health issues. And then my mom has five sisters and one brother, and all their health issues, and their kids.
Briana’s genetic counselor helped her to understand her options based on what genetic tests may find.
Briana’s genetic counselor helped her to understand her options based on what genetic tests may find.
So I found it very helpful to know, OK, this is you have a 50/50-- based on your family history, we believe you have a 50/50 chance. This is if you are diagnosed with x type of mutation. This is your risk for certain cancers. And then this is what you can do, and this is what you can't do.
Pre-testing genetic counseling also may be used to help determine eligibility for insurance coverage of the tests. Denise explains that after her cancer diagnosis, genetic testing was recommended and a counselor “ask[ed]..a bunch of questions because they’re trying to see if the insurance would pick it up.”
Some of the people we spoke to had to devote a lot of their own time and effort to getting their insurance company to cover the genetic testing. More details about these experiences are captured in our summaries on Insurance Coverage and Financial Issues, and on Advocating for Yourself.
Amy worked hard to get her insurance to pay for genetic testing.
Amy worked hard to get her insurance to pay for genetic testing.
I don't know much about insurance companies, really, but it kind of seems like they just didn't take the time to-- you have to dig in on the information yourself, and provide them with a case, and they can decide whether or not they want to approve it or not, and they weren’t going to do the work.
We had to go through, send the history that I came up with off to the insurance company.
I had to wait months, and I finally got the-- I actually had to call because I never got an answer. So I called, stayed on top of them. They gave me the answer, and like three weeks later, I received a letter in the mail that said I had been accepted, and they approved it for me to, for insurance to cover the blood test.
Getting Tested
For most of the people we talked to, collecting the material for genetic testing was no big deal. Both Terry and Christian had what Christian describes as “an easy blood test.” Ronnie did “a cheek swab thing.” Carrie’s test involved “a swish and spit.” Waiting to get the results back, however, can be more difficult. Sarah describes this time as “nerve racking.” While waiting, the people we spoke to described having different expectations of what the tests would reveal.
Christian talks about expecting to test positive.
Christian talks about expecting to test positive.
It was an easy blood test. And the results, waiting for the results was kind of the most dreaded part. Once I got them, I can't say that I was surprised. I had a feeling of, “I think I have this.” And I don't know where that came from. But when mom said, you know, “I have this genetic disorder. I want you guys to get tested.” I was just like, “I think I have it.”
Lisa S. describes a different expectation.
Lisa S. describes a different expectation.
I’m just get[ting] it out of the way. I’m going to be negative anyway, you know.
Getting Positive or Negative Results
People get their test results in different ways. Often, but not always, people meet with genetic counselors to get the news. For some people we interviewed, getting results was highly traumatic because of how it was done.
Heather got the news in a way she describes as “scarring.”
Heather got the news in a way she describes as “scarring.”
So a couple days later, I go to get my test results. And they had me come in in person, which they said we were going to do this regardless. You're going to come in either way. So I went in kind of believing that I was going to be told it was negative. And I went alone. I went wholly unprepared for any type of news. And you know, it was just me and a genetic counselor one on one, sitting in a room. And he came in and handed me a piece of paper and said, you know, “I'm sorry to inform you, but you've tested positive for Lynch syndrome.” And then proceeded to spend an hour, you know, diagramming what genetics are, and what this means, and where my mutation lives, and all the cancers that I'm now at risk for, which was like eight-plus cancers. Not just colon, which is what I'd previously known it to be-- colon and stomach. And it was a massive blur. I, I took almost nothing away from it. I sat in shock. You know, I was choked up. I thought, I'm alone. No one's here with me. I'm now getting all this information. He's telling me the screenings that I need to do in order to stay on top of my health care. And I walked out of there-- I couldn't have repeated probably anything that he said to me. And so it was a very overwhelming experience. And I think that was kind of the first thing for me about being diagnosed with a hereditary cancer gene, that was like, this isn't right. Like this isn't being handled properly. The way in which that news is to be delivered should be different than this.
Lisa S., who expected to test negative, looked up her results at work.
Lisa S., who expected to test negative, looked up her results at work.
And lo and behold, I found out at work, because you can look in your own chart. And I was on shift, and I found out, and it says “Positive.” And I started to cry, not really understanding enough more than I knew that I would have to deal with stuff. Ugh, it was a bad day.
Eve learned her test was positive from a voicemail.
Eve learned her test was positive from a voicemail.
I got a voicemail on my phone saying that I had it. I just…. If genetic counselors out there listen to this, you know, say “hey, call me back.”
Other people have different preferences for hearing the news.
Joan appreciates getting results in a straightforward way.
Joan appreciates getting results in a straightforward way.
And because there's so much cancer in my family, I guess I'm a little bit more a matter of fact than most people. And so I don't go in and cry. I just say, “OK, tell me what it is, tell me the worst-case scenario. Let's work our way backwards so I know what I'm dealing with.” So when it comes to the genetic counselor, just call me on the phone and tell me if it's negative or positive. You know, I don’t want to have to go-- I go to so many doctors, I don’t want to go back again.
Christian, who expected to test positive for Lynch, was calm when he received the news.
Christian, who expected to test positive for Lynch, was calm when he received the news.
I wasn't, in the moment, terrified, angry. I didn't have much of a reaction other than, “OK.” I can't, I can’t control it. I can't change it. I just have to work with it. And this is, this is just another part of this reality.
Kerry was able to stop blaming herself for getting cancer.
Kerry was able to stop blaming herself for getting cancer.
I had almost found comfort in the fact that it was genetic. Because before I knew, I was thinking, you know, I’ve done, I wear sunblock, and I eat all natural. And I, you know, I don't use things that have parabens in it. And I was very health conscious. And all you can think is, what did I do? What did I do wrong? I know that alcohol consumption, which I did not know before I had breast cancer, but a good majority of breast cancers are linked to alcohol, which I did not know. Not that I drink a lot, but, you know, I liked wine. I would have, you know, a couple of glasses at night. Not aware, but the genetic compound to that made, I almost found comfort in because I thought, this isn't something that I did. This is something that happened to me.
Mea, however, describes getting positive results as “a punch in the stomach.” She asks, “Why me?” and took a long time to accept the news. Ronnie says that getting the results “felt like getting cancer all over again.” Kim had thought she was done with cancer and “moving on,” so learning she has tested positive “was like a little bit of a blow.”
Sue thought about what her positive results mean for her children.
Sue thought about what her positive results mean for her children.
Devastated. Even before I knew. When even the thought that they could have inherited something from me. Besides all the good things they got from me, they inherited some bad shit from me. Oh, just that thought was-- I couldn't even, like I said. I did have a couple of very dark days. I’ve never kind of felt that way before. And I was not in a happy place. I was having a really tough time dealing with it.
Steven’s test results came as a relief.
Steven’s test results came as a relief.
And they also had me, one of the tests that I had done was the, the genetic testing. And they had ordered tests for three things, but there's apparently the panel, I think is 27 or 28 genes, that they really can look at, and they know that those genes actually have a relationship with cancers. And so I was asked if I was willing to have all of them tested. And I thought, “Well, why wouldn't I? Why wouldn't I want my family to know, you know, if I had any abnormalities or whatnot?” And as it turned out, I had my first chemo on January 5, and the geneticist came in and saw me during infusion. And she said, “Well, you're not going to believe this, but all 28 genes came back normal. So we really don't why you have cancer. You're kind of an outlier. It's, you know, just one of those things.”
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The fact that the way my genetics turned out was really good, my son, who's going to be a cancer doctor who has two daughters, was extremely interested in the genetics results. Because if some of those results hadn't turned out so good, that would have carried through in the genes to him and to my two granddaughters. Then it would have been something that they would have had to start dealing with at, you know, at age, what, 19, 20, 21. They would have had to start being tested. But now, since, you know, I came back negative, that was a huge relief to his family.
For Sarah, negative test results don’t relieve her worries.
For Sarah, negative test results don’t relieve her worries.
[The test results] don’t take away the fact that my mother died of cancer. My grandmother died with cancer. My aunt died with cancer...It doesn’t take away the family history.
Getting Inconclusive Results
Some of the people we interviewed received test results that were not clear-cut. In some cases, there was a problem with the way the test was conducted. Ronnie’s doctor, for example, called to tell her “they didn’t have enough DNA or something…to provide conclusive results.” In other cases, the type of testing used is limited in what it can find. Desiree explains that because her insurance restricted which mutations testing could look for, her doctors thought she was not BRCA+ but “couldn’t be sure.”
In other situations, the test result itself was inconclusive.
The interpretation of Ginny’s results has changed over time.
The interpretation of Ginny’s results has changed over time.
You know, I'm trying to remember. I think it was after I was diagnosed that they put us in touch with the genetic counseling center. And they said, “we think you're odd enough as a family that we should do some testing.” [NAME], I think, paid for the BRCA1, BRCA2 type test. And then, when my mother and I came along, all of a sudden it was kind of a family cluster. They said, we want you to have this testing. They did find a gene in common that they referred to as PALB2. And they described it as, it pals around with BRCA2. And it's kind of interesting, interesting, because at the time they said, “this is a finding of unknown significance.” And then they came back a year later and said, “this is a finding of no known significance.” So they change sort of their mind, there. They're basically saying, “it means you're related. We don't think it has any bearing on the fact that the three of you have breast cancer.” And they made that determination because I have three other sisters. And so their question was, “do we be tested? Do we get treated differently?” And all three of them are on a more cautious regimen. They get twice yearly, alternating mammo and MRI. Two of the three, I think, are on an anti-estrogen. So they basically came back and said, there's no real reason to get the test, because no matter what it tells you, we don't know what it means to begin with. And secondly, it wouldn't change how they treat them. They're already on the preventive level of treatment that they would get anyway.
Because of the higher family risk?
Yes. Right.
Just the evidence that there's more risk?
Just the evidence. And so they can't really say it's that gene. So even if any one of them had tested positive, they would come back and say, “well, we don't know what to tell you about that gene, because we just don't know enough.”
And how did that feel to you, to get that sense of unknown significance or no known significance? Like, that kind of grey area?
I'm kind of a scientist, so I understand. I would not want them to extrapolate and tell me that it means something if they don't know that it does. I appreciated the follow up letter the following year that said, we've changed it from unknown to no known, because that means something to me. It confused the heck out of my mother. She didn’t understand what any of it meant.
Steve Z.’s doctors continue to try to make sense of his genetic results.
Steve Z.’s doctors continue to try to make sense of his genetic results.
So they went into the genetic testing piece. They still couldn't be sure of why. They ruled out FAP. I don't even know-- polyposis is the last one. I can't--
Right. Polyposis syndrome?
Yeah. So they didn’t have enough information to say that you have the gene for that, or that you don't have the gene for that. So they treat me like I do. They don't really have an answer of why my colon had all those polyps, because gene-wise, it doesn't look like I have that genetic makeup. So that's where-- they find new genes all the time, so they’ll call me up and say, “hey, do you want to get-- do you want us to run your stuff again just to rule this out?” I always say yes. It doesn't really impact-- you know it's good to know. You know, obviously, the kids went through it, so.
Joan hopes for more certainty as new tests become available.
Joan hopes for more certainty as new tests become available.
So I just went back, which I do from time to time, because things change….There’s a lot more breast cancer genes and so forth that they’re looking for now. So I’m waiting for those results.
After Genetic Testing
When the people we spoke to were able to gain definite knowledge from their genetic testing they used this knowledge to make decisions about preventive screening and treatment, as described in our summaries on ‘Living with Frequent Cancer Screening’ and on ‘Choices about Cancer Treatment’. Many also begin having conversations with family.
Commercial (Non-Medical) Genetic Testing
A few people we interviewed also mentioned experiences they had had with buying genetic testing services in the private market. These tests are sometimes called “Direct to Consumer” tests because they are sold straight to people who buy them, without being ordered or reviewed by that person’s clinicians. Dr. Kala Visvanathan of Johns Hopkins University describes these tests at the bottom of our ‘Deciding about Genetic Testing’ summary.