Negative Genetic Test Results

 

Interpersonal Communication And Relationship Enhancement (I*CARE)
Mastering Difficult Communications - Special Situations
Genetic Counseling: Negative Genetic Test Results
Time: 9:31

Counselor:
So Mrs. Kemp we've talked about the three potential answers that you might get today, and reviewed, sort of, what each of those mean for you and your family and what strategies we might use to manage your risk. It seems a bit redundant, I know, because you're anxious and you want to know what your results are. But often times what we find through experience is that after we give you the results you don't remember a lot else of what we're going to say today. So that's one of the reasons we review that before I actually give you the results. Do you have any questions about anything I just said or brought up?

Mrs. Kemp:
No.

Counselor:
Okay. Okay. We'll I need to verify with you, to make sure that you indeed want to receive your results today.

Mrs. Kemp:
Yes, I do.

Counselor:
Okay. Well what I'm going to show you is that the results that we received back from your genetic testing for BRCA1 and BRCA2. And what they show here is they looked at each gene, fully sequenced them, and they found no alterations in BRCA1 and no alterations in BRCA2. So essentially it was what we call a negative test result; no changes were found.

Mrs. Kemp:
Okay.

Counselor:
Okay? Now it's important that we talk again about what that means for you. Okay? When we talked, even at our first visit and again today, a negative test result in your situation is essentially no news. It doesn't explain for us why we see the cancers in your family that are there. So essentially I would still treat you as a person at increased risk by virtue of family history, because there are many reasons, potentially, that you might have tested negative. It could be potentially the test missed something. As good of a test as it is, there are certain kinds of genetic changes that the test is not able to pick up. It could be that what's in your family just happened by random chance, and has nothing to do with hereditary cancer syndrome. We talked about there might be other genes out there that are present that explain what happened in your family, but we haven't even discovered them yet, so we don't know how to test for them. But the other reason, and that was one of the caveats of testing you first, it could actually be that there's something in your family, but you just didn't inherit it. But I have no way to know that, because testing not been done on any other members in your family.

Mrs. Kemp:
Right.

Counselor:
Is that, any questions about that?

Mrs. Kemp:
So basically, as far as risk goes, it, it doesn't put me in the general population.

Counselor:
Absolutely. That's a good question. No. I would still, I wouldn't drop you to population risk for breast or ovarian cancer. I would do, we usually say we use our best educated guess to look at your medical history, your personal history, and your family history. And sort of put all that together with the knowledge that we have to give an estimate for what your lifetime risk would be for developing a breast and/or ovarian cancer.

And I would still keep you in what we call a high-risk group, because you do have a first-degree relative, we believe, with ovarian cancer. I understand you're still trying to get the pathology reports on your mother's case, and that will give us very good information. So I'm glad you've been able to do that. And we would also; you have a first degree relative with a breast cancer. So we would change your recommendations for screening for breast and ovarian cancer over that of the general population.

Mrs. Kemp:
Okay.

Counselor:
So we talked about strategies for managing risk last time, and we'll review those again today. But it's important for you to remember, it's a lot of information still, is that you're going to get a follow-up letter from us. And it'll have the test results, it'll have information particular to our estimates for your risk for developing cancer, and then strategies for you to manage that particular risk. Okay?

Mrs. Kemp:
Right.

Counselor:
Do you have any questions you'd like to ask me at the moment? What's on your mind?

Mrs. Kemp:
Well I guess, I feel now that I'm sort of left hanging, because, I mean if it would have been positive I'd know for sure that I was at increased risk. But negative really doesn't change that risk.

Counselor:
Yes. Yes. There's only one circumstance that a negative test result would change that risk. And that's if we had known for sure that a family member had a positive test result, and we'd look for that change in you and it was negative then we would essentially know and we would put you at population risk.

Mrs. Kemp:
Right.

Counselor:
But unfortunately that's not the case here. So that's one of the difficulties of sometimes when we test someone that we say is unaffected with cancer, a negative test result sort of leaves us, in a way, with no news. So a positive result is news, in that it's often times much easier to then figure out what other family members might want to potentially do with that.

Mrs. Kemp:
Okay. So if my sister with cancer were to get tested, and based on her results it could give more information for my results.

Counselor:
Potentially. Potentially that's still an option. As I said, your test results only provide us information about you. So if your sister were to reconsider and decide she might potentially want to get tested, depending on what her results were, it might help us better, get a little bit more information for you. So, for example, if she did test positive, we now know that you don't carry an alteration, and that would be wonderful news for you. It would, as we discussed, it was only 50, 50 chance that you might have inherited that would tell us that you didn't inherit what was ever in the family. And you would fall to population risk for breast cancer and ovarian cancer. So it's important to remember, a lot of people then in that situation think they'd be off the hook and not at all at risk for cancer. But you always carry the population risk.

Mrs. Kemp:
Right.

Counselor:
If she tested negative we'd sort of still be where we are now.

Mrs. Kemp:
Right.

Counselor:
It's just sort of no news. And we talked a little bit last time about how technology and knowledge and discovery continue to move forward, and we learn more everyday. And so I hope we'll keep in touch. And we usually try to schedule follow up visits with you, so that we can apply new discoveries and information to your family and how that might potentially impact the options available to you.

Mrs. Kemp:
Okay.

Counselor:
Is this what you were expecting? Tell me how you're feeling.

Mrs. Kemp:
Well I just, I don't know, I guess I assumed I would have a positive result just looking at my family history and everything we discussed before. So I guess I just feel like I don't have a conclusion.

Counselor:
Yeah. And that can be kind of hard; it's not a definitive answer. But the other side of that is, hopefully you've gained a lot of information through this process that helps you, sort of, put your family in a little bit better perspective as you approach making decisions about your health. And with the knowledge that we can, hope, we believe we'll continue to gain additional information about families such as yours. One thing I want to remind you is that regardless of what your results are I always follow up with you by telephone in the next few days. So if any questions come to mind I'd urge you to write them down, so that then we can talk about them when I touch base with you. And I'll also try to set a follow up visit where we can get together again and address questions. And look at them in more detail at the screening plan that we outlined in your letter, and, and address any additional questions that you might have.

Mrs. Kemp:
Okay.

Counselor:
You have my card, so if any questions crop up tonight and you feel you need to talk to me then please give me a call or a page, and I'd be more than happy to answer your questions.

Mrs. Kemp:
Okay, I will.

Counselor:
Any other concerns you have today before we end our visit?

Mrs. Kemp:
No, I think that's, that's it for now.

Counselor:
Okay.

Mrs. Kemp:
I'll just have to, hopefully, talk to my sister and maybe convince her that this is something she should look into.

Counselor:
Okay. Well you've asked, have you asked your sister if she wanted to actually get your results? Is she open to that?

Mrs. Kemp:
I haven't discussed it with her yet, but she did know that I was getting the test done. So.

Counselor:
And you were coming today for your results. Okay, well one, one strategy we often recommend for families, we talked a lot the first time about people wanting to know and now wanting to know, is that you might say you were here today and got your results, and does she want to know those results. And she may say yes and she may say no. And so sometimes it's hard to respect those wishes, but that's, we often find that's a helpful way to present that information to her. Okay?

Mrs. Kemp:
Okay.

Counselor:
And if she wants to come see us, or you want to bring her to see us, we'd be more than happy to do that also.

Mrs. Kemp:
Okay.

Counselor:
Okay Mrs. Kemp, I'm glad you came today. And please, if we can be of any additional help to you please let us know.

Mrs. Kemp:
Okay, thank you.

 

I*CARE Home