Deciding about Genetic Testing

People with strong family histories of cancer, or those known to have other risk factors, may be offered genetic testing that can provide additional information about their risk profiles. The field of genetic testing is evolving rapidly; to learn more about the types of genetic tests that may be available, check out our resources page.

 

Karina Brierley, MS, LCGC, Genetic Counselor at Yale University’s Smilow Cancer Center, introduces genetic testing.

Karina Brierley, MS, LCGC, Genetic Counselor at Yale University’s Smilow Cancer Center, introduces genetic testing.

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When we talk about genetic testing, obviously that is pretty broad and there’s lots of different areas of genetic testing, even if we’re only talking about cancer genetic testing. So, one of the things that comes up now as different testing technologies both are becoming more common is this somatic versus germ line.
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Germ line refers to the fact that there are certain genetic changes or mutations that are present from birth and present in almost every cell of our bodies including the sperm and the egg cells which is what we call germ line. So, these are genetic mutations or changes that can be passed from parent to child. And what we’re looking for in this case is to look at genes that we all have that normally provide our bodies with some protection against the development of certain cancers-- tell our bodies how you know our cells should grow and divide in a normal controlled way over time. And what we’re looking for is to see did someone inherit a change or misspelling mutation that’s harmful in one of these genes that prevents it from providing that protection, and so that person would be at an increased risk for developing certain cancers over their lifetime. And so, this testing is often done with the blood or saliva sample. It can be done on people that have had cancer and people that have not had cancer. And so that is the majority of what we work with, and majority of what’s talked about in these videos.
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Tumor testing now has become more common to look at what is all of those genetic changes that have gone into the tumor. And what kind of unique pattern or distinct pattern of the genetic changes in that tumor that may then make it more responsive to certain treatments, so, we’re mostly looking at those changes that went into the cancer developing that then may be targetable in terms of certain treatments or may tell us more about prognosis. At the same time, because those inherited, or germ line changes are present in virtually every cell of our body, we often times also detect those in the tumor, and sometimes when they do this testing it’s always on the sample of tumor but sometimes they also have blood or saliva sample so that they can compare the two to what’s inherited and what just happened in the tumor.

 

In this summary, we focus on what the people we interviewed told us about how they made decisions to have, or not to have, genetic testing. Decisions about testing are often not easy to make. People weigh many factors, some arguing for testing, others against. Even after a commitment to testing has been made, questions of timing often remain.

 

Cynthia emphasizes that this is a very personal, and often difficult, decision.

Cynthia emphasizes that this is a very personal, and often difficult, decision.

Age at interview: 50
Cancer-Related Experience: Elevated risk
Type of Inherited Risk: Identified breast cancer mutation
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Because, you know, everybody has the right to make that choice. And what might be right for me and what drove me to my decision might not be the same thing for someone else.
Right.
And I did not walk into it lightly. It took, it took me several months of thinking about it and weighing it and talking to people that have been through it and having a better understanding. And still not even fully understanding it until I went through it, but understanding you know, the pros and cons of it all. And it takes a while, and it's going to keep you up at night. There's no doubt about it, in my opinion.

 

Steve K.’s experience suggests the impact the decision may have on family members.

Steve K.’s experience suggests the impact the decision may have on family members.

Age at interview: 65
Cancer-Related Experience: Cancer
Type of Inherited Risk: Family history of cancer
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I, you know, told them. I think I had to do it by phone, because they're not all around here. Anyway, I mean, I told them all at the time. I told them that it was going to be because it was really being done as a precaution, so they should not worry. It doesn't mean necessarily they're going to have cancer. You know, no guarantees there, but basically, don't jump to conclusions.

Reasons for Choosing Genetic Testing

The people we interviewed had several reasons for deciding to undergo genetic testing.

For some, there is no downside to being tested.  As Amy puts it, “Why not? What do I have to lose?”  Kim sees herself as helping other patients by contributing to scientific knowledge.
For many, including Terry, Cynthia, Joan, Steve Z. and Lainey, getting the results of genetic testing means being able to give their children, or other younger family members, important information they can use to stay healthy.

 

One woman decides to have BRCA testing for the sake of the next generation.

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One woman decides to have BRCA testing for the sake of the next generation.

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And so yes, I wanted to do that. I've already given my daughter a higher risk chance because I had breast cancer. I wanted to know for my daughter and my niece. I felt I owed them that.

Other people we spoke to explained that knowing their genetic status means they are what Cynthia calls “fully informed” and thus better prepared to make decisions about their health care and their lives, such as opting for frequent screening or seeking employers that offer excellent insurance. Both Briana and Irina, for example, make detailed plans based on the results of their genetic tests.

People who chose to have testing often described being convinced to do so by the words and the experiences of their family members. Terry says his sister “really pushed me into” getting tested by emphasizing that the information would be useful to his entire family. Amy agrees to be tested when a relative, who had herself been tested, reaches out to her. As Amy remembers, “She said, you know, this is not something I’m telling you to do. She didn’t pressure me at all.” Participants in our study also said health care providers like doctors and genetic counselors influenced their decisions about whether or not to test.

 

Lisa J.’s doctor urges her to be tested.

Lisa J.’s doctor urges her to be tested.

Age at interview: 54
Cancer-Related Experience: Cancer
Type of Inherited Risk: Identified breast cancer mutation
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So we started having these conversations, and there was this, you know, test that came out, the BRCA gene test. So I was-- I'd gone back to school, and I was like, how can I afford this? She said, “well, you know, I'll just write a letter to the insurance that you have.” And they approved it, because of my mother's situation, you know, being that I was genetically predisposed to it.
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And they approved the genetic testing. So I was very fortunate…it was a matter of having a doctor having that foresight.

 

PSM is persuaded to be tested only after several doctors recommend it.

PSM is persuaded to be tested only after several doctors recommend it.

Age at interview: 70
Cancer-Related Experience: Cancer
Type of Inherited Risk: Lynch syndrome
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The oncologist that I went to at [INSTITUTION] did not mention anything about Lynch syndrome. The first person that did, actually, I think was the oncologist I went to up here in [LOCATION]. And he said, “you know, you really should have genetic testing.” And I was, “no, you know, I'm not having genetic testing.” I just didn't see the point. I said, “so this is going to be, you know, something that I'm going to be nervous about.” And he did not push me, you know, in any way. But he said, you know, “at some point,” you know, he was basically, “think about it. It would be a good idea.” So I have to go for colonoscopies, obviously, more often than most people. So when I had, I think, my first colonoscopy up here in [LOCATION], my gastroenterologist said, “You really should have genetic testing.” And I said, “well, why? You know, what it is going to do for me?” And he said, “well,” you know, “we can--if anything happens, you know, and then if anyone in your family”-- it mainly became about my family. And I started to think about that.

 

A genetic counselor gives Linda the information she needs to make a decision about testing.

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A genetic counselor gives Linda the information she needs to make a decision about testing.

Age at interview: 63
Cancer-Related Experience: Cancer
Type on Inherited Risk: Family history of cancer
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The genetic counselor talked to us about doing the BRCA 1 and BRCA 2, I wanted to do it because, well, it was explained to me first. I didn't really understand. [A close male relative] had prostate cancer. And 25% to 30% of the time, a mutated BRCA 1 and BRCA 2 gene will manifest in males as prostate cancer. So he was my red flag more so than my maternal grandmother. And then the geneticist felt that because I have a daughter and I have a niece and I have twin granddaughters that we needed to determine if the BRCA 1 or 2 gene was there, the mutated gene. And so yes, I wanted to do that.

Reasons for Choosing Not to Have Genetic Testing

People we interviewed also shared reasons they had declined to have testing. Several, like Lori and Gina, are not opposed to being tested, but were told their insurance won’t cover it and couldn’t afford to pay out of pocket. Others talk about not having the time or the bandwidth to organize testing. Ronnie explained that she couldn’t deal with all the paperwork she needed to complete in order to have genetic screening at the same time she was being treated for cancer. Paul noted that he did not want to be tested in his teens because he felt like was invulnerable.Others described more complicated reasons for declining.

 

Susan doesn’t see a compelling reason to be tested.

Susan doesn’t see a compelling reason to be tested.

Age at interview: 71
Cancer-Related Experience: Cancer
Type of Inherited Risk: Lynch syndrome
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When I was in the hospital with endometrial cancer I was asked whether I'd like to have a genetic test. And I said no, I don't have any children. So in effect, I was thinking, “why do I care? I have had cancer, it's over and done with. I should get through this. If I get through this, I don't have any children, so what difference does it make? Why should I care about having a genetic test?” No one told me that there were specific things they might have been looking for. But it's also not clear to me that they were looking for Lynch syndrome at that time, because I had cancer in the mid-'90s, and no one who came around to talk to me and wanted to discuss genetic testing really had any explanation about why it would make any sense for me to have a genetic test. 

 

Carrie describes a mistaken belief that her mother’s cancer couldn’t be genetic.

Carrie describes a mistaken belief that her mother’s cancer couldn’t be genetic.

Age at interview: 54
Cancer-Related Experience: Cancer
Type of Inherited Risk: Lynch syndrome
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Because my mom had her breast cancer at 64. Nobody else in the family had had breast cancer. So there weren't a lot of red flags. And again, it goes back to the insurance. I didn't have great insurance. I wasn't sure if it would cover testing, and I was thinking more the BRCA. And it just didn't seem, since my mom was at a more advanced age, and her cancer was caught early, she had a lumpectomy and radiation, and then she was great. And she didn't have another cancer until she was 86 years old. So at that time, I wasn't thinking genetic testing. And also, you know, perhaps if it had been a colon cancer at 44, for me and for I think my doctors, maybe that would have been more of a red flag. But I don't think breast cancer at 44 is that unusual. I don't know. I don't know statistically, but there certainly are a lot younger women who have breast cancer, you know, 30s and— So, yeah. No, it didn't really seem like something that was crucial to do at that point, just looking at family history.

 

PSM fears knowing her genetic status would be too “unsettling"

PSM fears knowing her genetic status would be too “unsettling"

Age at interview: 70
Cancer-Related Experience: Cancer
Type of Inherited Risk: Lynch syndrome
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I just don’t want—I just—I know it's there. But I just don't want to think that way. I just don't want to think that my body is a time bomb, because I would probably not get out of bed if I did that.

Some people of color who told their stories for this website talked about how strong mistrust of doctors, based on a long history of mistreatment, may make people in their families and communities reluctant to get genetic testing.

 

Asante notes that distrust is a barrier to having genetic testing for many in the African American community.

Asante notes that distrust is a barrier to having genetic testing for many in the African American community.

Age at interview: 44
Cancer-Related Experience: Cancer
Type of Inherited Risk: Identified breast cancer mutation
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But you have to understand that we have a systematic history of distrust that is not going to get broken overnight. It's not. And I wish that there with some simple, simple plug that I could put on it, or a Band-Aid that could put on it to say, oh, it's going to get better. I don't see it getting better. People, black people do not trust the medical community. And I feel like they have really good reason not to.
Agreed.
You know? And I think that until that changes, until that, until we can advocate for ourselves in a real way that's going to make real change-- I can talk until I'm blue in the face to tell my dad to get genetic testing, and he is not going to do it. You know, he comes from an area where, you know, horrible things happened. And so I think that's where we're at. But I think it takes us, the younger generation, to, you know, try and advocate and be advocates. To say, you know, there are few, a few doctors that you can trust. You know, there are a few. But the best thing you can do is be your own, know your body. Talk to each other. You don't have to go to the genetic testing person, but we can talk to each other. You can know how your great grandmother died by asking your grandmother. You can know how your aunt died by asking people. Talk to each other.

Like those individuals who chose to be tested, those who declined also described being influenced by others. Some had their choices shaped by family members:  Ronnie “pushed off the genetic testing [because] my mom was so sure that my cancer was not genetic, and I believed her.” Others were discouraged from testing by medical professionals.

 

Lisa S.’s doctor is unenthusiastic when she asks about testing.

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Lisa S.’s doctor is unenthusiastic when she asks about testing.

Age at interview: 56
Cancer-Related Experience: Cancer
Type of Inherited Risk: Identified breast cancer mutation
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I spoke with my doctor about that and I said, you know, “Should I get tested?” And she said, ‘Well, why would you want to do that?” Well, gosh darn, that was pretty unusual because I worked in a clinic and I was surprised by her response. But I thought, “Well OK if I don’t really have to do it. Then I guess I won’t.”

Getting Genetic Testing Before or After a Cancer Diagnosis

Some of the people we spoke to had genetic testing before being diagnosed with cancer. Amy has never had cancer but chose to be tested because a number of her relatives carry the PALB2 mutation. She now knows that she, too, has the mutation. Briana learned in her twenties that her family history suggested there was a strong possibility that she carried a BRCA mutation. She made the decision to be tested after speaking with a genetic counselor.

 

Knowing her genetic status allows Briana to make informed health care choices.

Knowing her genetic status allows Briana to make informed health care choices.

Age at interview: 28
Cancer-Related Experience: Elevated risk
Type of Inherited Risk: Identified breast cancer mutation
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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. So even before I decided to get testing done, I knew that, OK, if it comes back positive, then I'm going to pursue surgical prevention, and do every single thing that's available to me.

Many of the other people we spoke to did not have genetic testing until after they had been diagnosed with cancer. Susan was offered genetic testing when she was in the hospital recovering from surgery for endometrial cancer. Lainey was tested only after her third cancer diagnosis.

 

Terry knew several of his family members have Lynch syndrome but did not undergo genetic testing until after his own cancer was diagnosed.

Terry knew several of his family members have Lynch syndrome but did not undergo genetic testing until after his own cancer was diagnosed.

Age at interview: 61
Cancer-Related Experience: Cancer
Type of Inherited Risk: Lynch syndrome
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Well, with my job, I did a lot of moving around. And you know, I just really didn't make the time to go get the testing. The testing is real simple. I just didn't come up with the time. And I would definitely encourage getting that testing done, because it changes a lot. And without having colonoscopies more routinely, you know - it could be pretty bad if your cancer-- because there's no symptoms.

Mm-hmm.

You don't feel any different. It's all of a sudden, wham, your doctor's telling you, you got cancer and you had no idea. So the Lynch syndrome, if I would have known 10 years ago or 15 years ago, I would have done probably more of the colonoscopies, more of the testing, just to make sure I catch it early enough. You know I was fortunate, they did catch it early enough. But it spread quite a bit, and quickly, within a year-and-a-half. It went from everything is fine to we gotta do surgery.

Delaying Genetic Testing

Although some of the people we spoke to had testing as soon as it was recommended to them, a very common scenario was to refuse testing when it was first offered, and then opt to have it months or even years later. During the period of delay, either people’s circumstances or their perspectives changed. Decisions to test later are often made when an individual’s children are getting to be old enough where knowing their parent’s genetic status would be helpful.

 

One man describes eventually going ahead with testing for the sake of his children.

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One man describes eventually going ahead with testing for the sake of his children.

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And then fast forward, you know, quite a few years, we now have children. And so I guess it's about four years ago, went ahead and had genetic screening to confirm. I went and did that test to confirm what specific genetic mutation, or whatever it is, that we had, so that we could get our girls screened as well. It was at the point at which our kids were getting to the age of needing to have annual scopes, or get tested. That's when I went ahead and had myself tested. It was just for our kids, getting them screened, you know, to have that confirmation so they could screen for the specific mutation, rather than a broad spectrum kind of thing.

For other people, genetic testing becomes more appealing when they are reaching the age when they perceive themselves to be at greater risk of developing cancer. Once Heather learns that a relative who is her age recently has been diagnosed with both Lynch syndrome and colon cancer, she realizes she herself is also ‘old enough’ to get sick.  She describes this as “the moment of, we need to kick into gear on this stuff.”

In other cases, people go ahead with testing when external circumstances change.

 

Irina wanted to be tested based on her family history, but had to wait for medical knowledge to catch up.

Irina wanted to be tested based on her family history, but had to wait for medical knowledge to catch up.

Age at interview: 45
Cancer-Related Experience: Elevated risk
Type of Inherited Risk: Identified breast cancer mutation
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I was again, looking, and I saw that. But BRCA1, BRCA2 genes are linked to breast cancer, and later they were linked to ovarian cancer, but not fallopian tube cancer. So I was talking to my doctors, and that's like almost 10 years ago now, and they all were saying, “Well, no it's not related, it's not related. We can't really test you for that,” because I was asking to be tested. And then again, with just the time and research that was published, and things that were, that became more accepted by the medical community. The new guidelines from NIH came out, I want to say 2015 or maybe 2014, where, first of all, they kind of grouped ovarian cancer and fallopian tube cancer together. Because a lot of times, doctors can't really-- they don't really know what it is exactly. It's somewhere in the area, especially if it's spread. They call it and they treat it the same, and the prognosis is very similar. So they combined them. And they also found enough links for the Ashkenazi Jewish population, that they're more likely to have that mutation. So, and I am an Ashkenazi Jew. So and that was enough, after those guidelines came out, that my doctors, “Well, OK, we're going to test you.” Well, they sent me to the genetic counselor first. And I went to the genetic counselor, and I was with a different insurance company at the time. I just feel like I’m an atypical patient, a little more knowledgeable in the area. So the genetic counselor, I don't think, was quite prepared for me. But anyway, I got tested, and I am BRCA2 positive.

Other Kinds of Genetic Testing

After being diagnosed, some of the people we interviewed described having another kind of genetic testing: tumor typing, or taking a sample of a cancerous tumor in order to understand its genetic profile. This kind of genetic testing can provide information about how to approach treatment.  Karina Brierley’s video at the top of this page describes this kind of 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. This type of testing differs from genetic testing done in a medical setting.

 

Dr. Kala Visvanathan of Johns Hopkins University describes Direct to Consumer testing.

Dr. Kala Visvanathan of Johns Hopkins University describes Direct to Consumer testing.

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Sometimes when you go onto a website and you take a test, although you read the test you might not understand what is the implications of the test and then you send of the sample which sometimes can be a swab or a blood sample. And you get the results back and then you don’t totally understand the interpretation of those results. When we see people for genetic testing and this is particularly for cancer, we really spend a lot of time looking at their history. We look at both their family history, their personal history and other risk factors. And then we meet with the patients and we talk to them about the implications. So we have more time to think about it and we are focused specifically for example on their cancer risk. At the same time after testing when we have the results, we also have the time to interpret the result and provide what is the necessary information. This level of information is not provided when you do this direct to consumer testing. I think it is not so much that people should not test or test. It is more that the need to understand the limitations of this testing. And be aware that it can’t be used to replace testing through a health provider.

 

Genetic Testing, Privacy and Discrimination

In 2008, a law called the Genetic Information Nondiscrimination Act or “GINA” was enacted in the United States.  The law is designed to protect private genetic information and reduce potential discrimination in health care and employment.

 

Karina Brierley, MS, LCGC, Genetic Counselor at Yale University, talks about the Genetic Information Nondiscrimination Act.

Karina Brierley, MS, LCGC, Genetic Counselor at Yale University, talks about the Genetic Information Nondiscrimination Act.

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In terms of privacy, there is a broad law that was passed in 2008 called the Genetic Information Non-Discrimination act, or GENA for short. And, so that was really passed not as much that we had a lot of evidence of concerns, but just to give people that extra layer of reassurance that it provides protections in terms of health insurance and employment that, you know, for genetic discrimination. So, from insurers or employers using genetic information to make decisions and to discriminate against people. In terms of health insurance, it provides protections that say health insurers can’t use or ask that information to determine coverage, to determine cost. Those kinds of things. In terms of employment, again, it’s that employers can’t ask for user require that information to make hiring and firing decisions, payment, promotions, things like that. There are certainly some gaps in that coverage. So, the important ones being that for health insurance it doesn’t necessarily cover [patients that are involved in certain federal health systems like the military or veterans. There are other policies and things in place that provide similar protections, but it’s not covered under GENA. For other insurers, life insurance, disability, long-term care, those are not covered by GENA. For employment-- small employers less than 15 people aren’t covered by GENA. So, there are certainly some gaps but it does provide some good protection as well.