When Thinking About Genetic Testing for Cancer Risk, Ten Things to Consider

Since Angelina Jolie announced to the world she had undergone a bilateral prophylactic mastectomy, it seems like hereditary breast and ovarian cancers have been in the news more. A celebrity spin on any topic generates buzz on a whole new level. In this case, it’s mostly a good thing, and again, I applaud Ms. Jolie for coming forward.

I shared my thoughts about her decision here – it was my most read-on-the first-day-published post ever. Go figure. While all this attention to a topic I care about deeply is a wonderful thing, it can also potentially give the wrong impression about genetic risk for the general population.

It’s important to remember that most breast cancers are not hereditary; in fact, statistics say less than 10% are. Most are sporadic which means there’s no family history. Some are also considered familial, meaning there is a family history but no known hereditary mutation to pinpoint.

If you are one of those people in a family where there does appear to be hereditary cancer risk factors at play, it can feel frightening, unsettling and quite overwhelming.

You might assume the decision to go ahead and have genetic testing done is an easy one for a person to arrive at. This is not necessarily the case, at least it wasn’t for me, and I don’t think I’m alone. As usual, everyone feels differently about this depending upon their individual life experiences, values and beliefs – not to mention insurance coverage.

I remember very well the day my mother called me announcing she had made an appointment to meet with a genetic counselor asking me to go along. I was not happy she had made such an appointment without consulting me first, but of course I did agree to go and in the long run, it was a smart decision on her part.

After her results came back, (btw, this was two years after her breast cancer diagnosis – my family history is complicated). I wasn’t yet ready to be tested myself. I’m a slow processor, and yes, I realize this trait of mine hasn’t always worked out well for me. I am the poster woman for waiting too long while thinking things through.

I was in the thinking about getting tested phase, when the shit hit the fan. My cancer diagnosis sped a lot of things up for me, including genetic testing.

As a mother and now someone who’s had a cancer diagnosis, my opinions on genetic testing have certainly evolved. I am in favor of genetic testing when appropriate, but I also respect a person’s right to not pursue it. I remind myself of this when discussing such matters with my own kids, who now must face making these decisions. I voice my opinions, but try not to push too hard.

If you are contemplating genetic testing to help determine your hereditary risk for breast and ovarian cancers, here are some things to consider:

  1. Discuss your family history carefully and thoroughly with your primary care physician. He or she should be able to help determine if there are indeed sufficient red flags waving around in your family tree to warrant testing.

  2. If it seems there are too many red flags, or if you’re just not satisfied, see a genetic counselor to talk further about your concerns. Remember just because you talk with a genetic counselor, it doesn’t mean you must go ahead and be tested. Any counselor of worthy ethics will make recommendations, but shouldn’t be pushy.

  3. Before going to see your genetic counselor, do some digging and bring whatever you can uncover (medically speaking) about your family tree. Sometimes they send you forms to fill out before your appointment. And be sure to delve into both sides of your family tree as both sides matter equally. The more relevant info you can uncover, the better. Genetic counselors love talking about your relatives!

  4. Don’t worry about discrimination if you do test positive. (Whew…there’s one worry to cross off your list). It is illegal now (in the US) for insurance companies to drop policy holders from medical plans based on genetic test results. However, life insurance is another matter. Therefore, it’s imperative to do a bit of investigating before moving forward with testing.

  5. Ask yourself if you truly want to know information that genetic testing may or may not reveal. Remember, if you go looking for answers, you might find them. Can you handle the truth?

  6. Next, ask yourself what you will do with the information. Will you make life style changes? Will you consider prophylactic surgeries? Will you start a medication for prevention purposes? Will you be diligent about surveillance? Will you worry yourself (or your loved ones) beyond what’s reasonably acceptable? Will you do nothing?

  7. Check out resources that are available to help you such as Facing Our Risk of Cancer Empowered, so you can make an informed decision about testing. The goal is to feel empowered, not guilty or under duress.

  8. Remember testing positive doesn’t mean you definitely will get cancer and testing negative doesn’t mean you definitely won’t.

  9. Without testing results, insurance might not approve closer surveillance. (Of course, not everyone has insurance, but that’s a separate topic).

  10. Finally, think things through. Take the time YOU need and don’t feel pressured or hurried. A person’s mind does need to be in a place of readiness.

As with so many things in life, especially medical stuff, the decision to undergo genetic testing is yours and yours alone to make.

Update:  Direct to consumer genetic testing is now an option too. If you do choose this path, proceed with caution. You might want to read this post:  FDA Will Allow 23andMe to Offer DTC Test for Three BRCA Gene Mutations – Good or Bad Idea?

Note:  Discrimination based on genetic test results is illegal since passing of The Genetic Information Non-discrimination Act.

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Have you had (or have you ever considered having) genetic testing, and if so, what prompted you?

For those who are wondering about where to start, do you have any tips to share about any part of the process?

Despite potential hereditary risk, have you decided not to undergo genetic testing?


10 things to consider when thinking about genetic testing







32 thoughts to “When Thinking About Genetic Testing for Cancer Risk, Ten Things to Consider”

  1. Nancy,

    Thank you for putting together your thoughts regarding whether to pursue genetic testing or not. I truly appreciate having been considering my personal and increased risk for breast cancer as a secondary malignany because of high dosed of chest radiation as a child.

    Because of my risk being almost as high as someone with the BRCA gene, our insurence company pays for my yearly mammogram with a 6 months MRI of both breasts. So, I have elected to go with surveillance at this point.

    Will that be my final decision? I don’t know, but it is for right now and I am at home with that decision, but I also give myself the freedom to throw [it] out the window should new information become available.


    1. Stephanie, I’m glad to hear you are monitoring things closely and that your insurance is covering things. Good for you for making decisions that feel right. And as you said, we always have the freedom to switch paths. Thank you for sharing.

  2. Another excellent post, Nancy. It has been over a year since I did the testing so I may be remembering wrong, but I believe that although medical insurance cannot be denied due to genetic testing results, life insurance can be denied.

    1. Elizabeth, That’s an excellent point and I’m pretty sure you’re right. I guess I was referring to medical insurance in the post. Thanks for reading and commenting.

    2. hi i just wanted to chime in on the topic of life insurance. the results of a brca test will not in any way have an impact on your life insurance. it is the questions that they as you, and your answers that have the effect. these are very different things. I had the test done a few months ago and it has completely empowered me. luckily i did research ahead of time, as most dr’s don’t knwo the exact red flags that they should know. but every decision and symptom that i deal with from here on out at my gyn will be dealt with differently in order to protect me. birth control, mammograms, mri’s, bleeding and yes surgeries. I’m also harvesting eggs so that i can still have a baby if we choose so.
      barb, as for the gene coming from your dad, if you have the same gene it did. you could have a full brca test and see if you have other mutations from your mom’s side. it’s rare but possible. something to talk to your dr about and maybe a good genetic councilor.
      gang, i have too many friends who have died of cancer. this isn’t about just knowing you have the mutation but making sure you and your dr make the right decisions in everything. birth control. pregnancies, surgeries and medication. there are options out there for us. But you have to get the diagnosis to really know where to go. Blessings to you all. May we all lead long and happy healthy lives!

      1. Jane, The Genetic Information Nondiscrimination Act of 2008 specifically addresses health insurance and employment, so I’m not entirely sure about life insurance. I hope you’re right though! Thanks for chiming in!

      2. Your statements about brca not impacting life insurance are false .
        I’ve been denied life insurance due to my brca status and know others who have as well

  3. Despite potential hereditary risk, have you decided not to undergo genetic testing? Applies to me. Great Grandmother, Grandmother, Mom, and me diagnosed with BC.

    Why not do it? #5. Ask yourself if you truly want to know information that genetic testing may or may not reveal. Remember, if you go looking for answers, you might find them. Can you handle the truth?

    Unwillingness to set panic throughout my family. If they want to get tested, they can. My feeling is it should be up to them, not me to disclose this level of information.

    1. Diane, I understand where you’re coming from. Genetic testing is not something everyone wishes to pursue. I respect that. Thanks for sharing your perspectives.

  4. A very thorough post, Nancy. I was tested for BRCA when my oncologist gently said, “don’t you think it would be a good idea?” and I realized it was covered. The test came out without any mutations, but the lady said to call back every couple years since new results are often being found.

    Without any history of CANCER, let alone breast cancer, in my family – for me, it was a surprise no test could have anticipated. ~Catherine

    1. Catherine, It was good you were tested though I think. And yes, surprise indeed! Who would ever anticipate such a thing. I’m sorry you’ve had to deal with a diagnosis and at such a young age too. Not that any age is good, but… Hope all your tests are going okay. Thinking of you. Thanks for reading and sharing.

  5. Great post, Nancy. The non-discrimination by insurance companies is an important point that health insurance brokers should share. I’ve heard women tell me that they worry that if they even ask about the test, their premiums will go up. Crazy.

  6. Although my docs all believed my bc was genetic, I didn’t agree to testing until after surgery and chemo, but before radiation. I was quite surprised that my test revealed BRCA1 positive.

    None of my family is interested in testing and I was sad at first, but I respect their choices.

    1. Tracy, Was there a lot of bc in your family then to make your doctors suspicious? I’m sorry you got the surprising results you did. But at least now you know. We can encourage others in our family to be tested and voice our opinions, but in the end, everyone must decide for herself/himself. Some in my family have chosen not to test as well. I respect their choices. Thanks for sharing.

  7. A history of bc on my mother’s side and my dx of mbc led me to genetic testing where a mutation was found. That was not a surprise. What the surprise is that the mutation seems to have come from my dad’s side (he agreed to testing as mom passed away yrs ago) Therefore they can not be sure that my dx was related to the variation in the brca2 gene (lack of bc on dad’s side). Of course there is a chance that it is and my 5 sisters and 2 brothers are aware of the need for close surveillance.
    So even though a test comes back positive, it isn’t necessarily cut and dry.

    1. Barb, Nothing about cancer is cut and dry is it? I’m sorry your test turned out to be positive and I’m sorry about your mets diagnosis too. I wasn’t surprised about mine either, I just knew it would be positive. Thanks for sharing the important fact that this mutation most definitely can also come from the dad’s side. I’m glad your siblings are aware of the need for possible close surveillance. Thanks for sharing. Good luck with things.

  8. I was the third generation in a row to get breast cancer, my grandmother, mother, and then me. There is also breast cancer in my father’s family. My surgeon and medical oncologist were both anxious for me to be tested, as there was a possibility that it could be a factor in future recurrence risks. Also, they felt it was important because I have daughters and female cousins. (I felt kind of like the family guinea pig.) My insurance did cover it. The genetic counselor said in my case that they wanted me to sign for permission to examine other genes in my genetic sample as women with such a strong family history may carry genes for breast cancer not yet identified. By the way, with my family history this kind of surprised everyone – I was negative for both BRCA 1 and 2. So maybe I do carry some still undiscovered gene for breast cancer?

    1. Elizabeth, It sounds like there is some hereditary risk factor at play despite the fact you tested negative for the BRCA mutations. I think there certainly are many unknowns we have yet to learn about. I’m glad you were tested though, so at least that’s something to cross off the list! Thanks for reading and sharing. I appreciate your candor in all your comments, very helpful to others.

  9. Nancy,

    I’ve fallen behind on my blog reading once again, so please forgive me! Anyway, I love this post. Getting genetic testing is no easy decision. After my initial diagnosis and treatment, I did get genetic testing after major meltdowns. In fact, I was scared out of my mind during it and when I got the results, which were negative for the mutation. Thank you for addressing the fact that breast cancer isn’t always due to the genetic mutation. Mine wasn’t. My family history: dying of old age.

    Thank you for an enlightening post, Nancy.

    1. Beth, Who isn’t behind? Thank you for reading when you can. Your support means so much. And yes, genetic testing is very stressful no matter what the outcome. Thanks for sharing.

  10. I have a question that maybe someone knows for sure — my mom has had both breast and ovarian cancer and she tested positive for the BRCA1 gene (her mother had breast cancer and my first cousin has had ovarian cancer with other cousins having some type of cancers). I am strongly considering having the gene test but the one thing that is holding me back is if I test positive would that affect my son in any way from getting medical/life insurance in the future?

    1. Regina, Thanks for posing the question. I believe it is illegal now to discriminate based on genetic testing as far as medical coverage goes, but I’m not sure the same can be said regarding life insurance. I don’t know, but I’m sure you can find out by asking around. Good luck to you!

  11. Nancy,
    Could you please modify your comments above slightly with regards to insurance companies dropping you. GINA does NOT prevent insurers from dropping your LIFE insurance. It prevents them from dropping your HEALTH insurance or charging you a higher premium. For women who are the sole fincial support to the family, this is a very serious matter to be aware of prior to testing.

  12. I have a history family of breast cancer going at least two generations back. How can somenone consider not testing? Why not try to do something before it is too late? Testing sooner rather than later can save lives, any other decision does not make sense. I know a family that tested at the same center with me, the mother had breast cancer but her three daughters didn’t want to test or they just postponed it. At the end, it was too late for the oldest daughter, which died of breast cancer at a relatively young age. Me and all my family have tested not because we had too but because they were able to explain to us the importance of it. I can understand the personal choice but only after being sure that the person knows exactly what he is doing and what he is giving up.

    1. Alkmini, While a different decision than yours might seem unfathomable to you, it might be someone else’s choice. All of these decisions are huge and very personal. I’m glad you’ve taken steps that feel right for you. Thanks for sharing your thoughts on this important topic.

  13. genetic testing, is a good thing. Any family hx. eg. great grandmother, mother, father prostrate, much higher rate
    of a bad thing.
    My dx. was in 1994, not available at that time in Mt.
    So when I finished, mascetomy, triple killer chemo available
    then, I went to Denver, and tested positive genetic results.
    Nice know it is available all over, the world!!!!

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