To test or not to test? What if you "Don't want to know"?

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DrHeatherRichardson
DrHeatherRichardson Member Posts: 5
edited March 2016 in Genetic Testing

As a breast cancer specialist, I've worked with a few patients who have told me that if they do have a mutated gene that gives them a predisposition for breast cancer that they don't want to know. How do people with this mindset decide if they should test or not?

Could there be any benefit to testing for these patients? 

Even if they don't want to know their status themselves, the results might impact their family members who are healthy and even their own health outside of breast cancer if other cancers are diseases are associated with that particular mutation.

Personally, I feel that knowledge is power! ...and having the opportunity to deal with a disease on your terms before it becomes deadly makes much more sense than waiting for it you to hit you like a Mack truck and have to deal with it then and there on IT'S terms. Plus, there is the possibility that the test could actually be negative. This would release you from unnecessary anxiety that you're going to keep on your shoulders regardless without the testing results. A positive test merely confirms what you're worried about, does not change your mindset, but now empowers you and entitles you for more investigation and monitoring.

What do you think? Are there advantages to NOT knowing, if you are already concerned anyway?

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  • Peppin
    Peppin Member Posts: 29
    edited March 2016

    I knew I had a family history and yet I never wanted to test. My reasoning was that having a mutation does not mean that one will definitely get breast cancer. Not finding one does not mean I don't have one. Furthermore I knew that I could not face a prophylactic mastectomy. To me it was not something I could live with. And I did not want to live with a very dark cloud on my head if I did have a mutation. As it turns out I did get breast cancer. After I got it I did genetic testing because I hoped it would help me decide on some of my treatments and preventive measures - but in this case I already knew that I was at risk cause I already had cancer. Unfortunately my results are not informative. There are DNA changes but none that we recognise as definitely disease causing. They might be, or they might not be. So the results did not help me. But in my mind a strong positive family history can be a good indicator of risk. I would also like to comment that some people who test say BRCA1 and BRCA2 and get a negative result reason that they do not have a genetic mutation that predisposes them to breast cancer. There are other genes that can predispose, and it could also be that a mutation went unrecognised. The field is still limited and when a rare DNA change turns up it is not always clear whether or not it has a harmful effect. Several times in genetics a mutation can change classification from benign to variant of unknown significance or to pathogenic or vice-versa as more information is gathered.

    You might ask do I regret not having tested before I got cancer? No I don't. Having now passed through a bilateral mastectomy and reconstruction, I confirmed that for my mindset it would have felt tragic to me to do this simply because I was at increased risk of getting cancer. I have managed to do it only because I had no alternative. Thankfully not all women reason like me. I think testing only makes sense if someone is prepared to take preventive measures if they test positive. If they are not, then what's the point of knowing? A negative result is not necessarily a relief - it doesn't mean one won't get cancer.



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  • muska
    muska Member Posts: 1,195
    edited March 2016

    DrHeather, knowledge is power if something can be done about the knowledge. That is not always true with breast and other cancers. Genetic testing does not necessarily give you "the opportunity to deal with a disease on your terms" - sometimes it helps to delay the inevitable and sometimes it doesn't. Even negative results are not a guarantee.

    I was tested for BRCA1 & 2 mutations and both came back negative as I expected because there is no breast cancer in my family. Did this release me from unnecessary anxiety - mostly about my two adult daughters? No. I worry about them no less than before the test. Do I want them to be tested for a larger set of mutations than I was? No. Why? Because if the results come back inconclusive or even a mutation of some kind is found that would only create anxiety.

    This is not black and white as you make it sound and I am somewhat surprised a breast cancer specialist doesn't get that.

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  • BarredOwl
    BarredOwl Member Posts: 2,433
    edited January 2017

    Hi:

    Many patients do feel that they would rather know about a pathogenic mutation or other variant, than not know. However, some patients do not feel this way, and that is their choice, because they are the ones who must live with the test results and the psychological and medical impacts of those results. The interests of other relatives are likely considered by many, yet there may be options that do not require one to push for testing of the hesitant or unwilling.

    Knowledge can be power, for example, if a known pathogenic mutation is discovered in a well-characterized gene, for which there are established clinical consensus guidelines and possible options for enhanced surveillance and/or risk reduction measures, supported by clinical evidence. But other outcomes are also possible. Many genes included in current multigene panels are poorly characterized and lack consensus guidelines. The actual degree of risk conferred by some variants may be unclear or completely unknown; this is true for variants in well characterized genes and poorly characterized genes alike. Thus, not all variants are considered "actionable" and for various reasons they do not support medical intervention, such as certain surgical risk reduction measures (if available). Living with the uncertainty and anxiety of unknown risks presents its own challenges. When "actionable", patients may feel empowered. Yet, the stress and anxiety around enhanced surveillance (with heightened vigilance), and the physical and quality of life impact of certain risk reduction measures can be substantial and should not be discounted. Variants in some genes may predispose to cancers for which there are no effective surveillance protocols and/or for which there are no effective risk reduction strategies.

    To make a fully informed decision about genetic testing requires being fully informed of the pros, cons, and limitations of genetic testing. Under applicable guidelines from the NCCN for Genetic/Familial High-Risk Assessment: Breast and Ovarian (Version 1.2016), suitable candidates should be referred for genetic counseling as a first step. The Genetic Counselor, who should be trained in genetic and familial risk assessment, will take a complete family history and relevant health history, and conduct a formal risk assessment. They will make a recommendation as to whether genetic testing should be considered. If so, they will also make a recommendation regarding appropriate testing options, in light of available clinical evidence (e.g., selection of specific genes or particular multigene panels). (Whether to proceed with such testing or not is ultimately the patient's decision.)

    A Genetic Counselor should fully address the possible outcomes of proposed testing, and the pros, cons and limitations of testing. Under applicable guidelines, they should also provide advice regarding possible inherited cancer risk to relatives. They can provide expert advice regarding the best strategy for familial testing in order to obtain the most informative results (i.e., which affected person in the family should be tested first, etc.). If one person does not wish to be tested, there may be other strategies available that can provide potentially informative results for unaffected family members. For example, in some cases, the testing of a living, affected parent could be more informative to an unaffected sibling than the testing an affected sibling.

    For more about the complexity and challenges, see e.g.:

    ASCO Policy Statement (2015): http://ascopubs.org/doi/abs/10.1200/JCO.2015.63.0996

    Lindor (2013): http://theoncologist.alphamedpress.org/content/18/...

    BarredOwl

    [EDIT: I also had full BRCA1 and BRCA2 testing in 2013, but declined broader panel testing, despite family history in three-successive generations, because of some of these concerns.]

    [EDIT: Link to ASCO Policy Statement updated]

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  • Peppin
    Peppin Member Posts: 29
    edited March 2016

    I don't understand why Dr Heather's post was removed by the Community. I may be wrong but I get the impression it was removed because some people did not like what she was thinking/saying/asking. She is free to have her view - it must be the view of many - and many will have her same questions. This forum gives us the opportunity to discuss freely. We solve nothing by suffocating people's queries and ways of seeing things. The readers can follow the discussion and make up their own minds for their personal situation. We are all different and ultimately we need to decide for ourselves.

    I say, bring her post back. I am one of those who opted not to test and I did not find it offensive. If anything it helps me understand how others could be finding difficulty understanding my decision.


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