Which genetic screening to do?

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BlueHeron
BlueHeron Member Posts: 154
edited December 2015 in Genetic Testing

I am waiting for my test results for BRCA 1&2, apparently they are screening for the three most likely mutations given my Ashkenazi heritage and some family history. If the tests are all negative, then what? The genetic counselor commented that further testing could be an insurance battle. I'm willing to battle if I need to, but apart from BRCA, I don't know what I'm looking at or for. Is it important for me to get fully screened, in that a positive test on another gene would push me towards more aggressive surgery?

Thanks for any insight.

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  • mustlovepoodles
    mustlovepoodles Member Posts: 2,825
    edited December 2015

    My family is not Jewish, at least not going back 3 generations, but we have a ton of cancers, including breast, colon, lung, and pancreatic cancers. My doctor wanted me tested for BRCA 1&2. When I went to the genetics counselor she offered up that I might benefit from having more than just those two tested. So I had the 32-gene panel done and lo! and behold: I am positive for PALB2 and Chek2, two very rare gene mutations which are implicated in breast, colon, pancreatic, and other cancers. She estimated my risk for BC at 45% or more. I am having my children tested now, as they have a 50% chance of inheriting one or both gene mutations. PALB2 means "pathway and locator of BRCA 2", so it has similar risk to BRCA2, especially in those with a strong family history.

    I don't know that either of those genes are common to Ashkenazi Jews, so I can't really speak to that. It wasn't until I started doing a medical family tree that all this was revealed--32 cases of cancer in 1st & 2nd gens. Yikes! My insurance paid for all of it (I've met my out-of-pocket for the year.)

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  • BlueHeron
    BlueHeron Member Posts: 154
    edited December 2015

    Thanks, poodles. I'm scheduled for lumpectomy on 1/14, assuming negative BRCA. I guess, if these mutations are rare, it does make sense for me to go ahead with that surgery, and try to get whatever other genetic testing I need before I start radiation? Don't know yet if I will need chemo. If I go from surgery to rads, how long in between? I wouldn't want to start rads if I'm going to need Mx.

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  • mustlovepoodles
    mustlovepoodles Member Posts: 2,825
    edited December 2015

    When my BRCA 1&2 came back negative we did the happy dance and went through with the lumpectomy. A week or so later, the other test came back positive for PALB2 and Chek2. At first the plan was to start rads after I healed from the LX, but after seeing the oncologist my whole treatment plan changed. I started chemo in Oct, will finish next week. I'll be having a BMX sometime late Jan, followed by an oophorectomy this summer (or possibly hysterectomy, due to family history of uterine cancer). The only bright spot in all this is that I won't be needing radiation after all.

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  • BlueHeron
    BlueHeron Member Posts: 154
    edited December 2015

    very helpful, thank you!

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  • BlueHeron
    BlueHeron Member Posts: 154
    edited December 2015

    OK, just got back the results. They tested only for the "founder mutations" and I'm negative for BRCA 1&2 the most likely/common ones. I'm so glad for that, but I feel I can't quite fully breathe until the remainder of the testing is done. It sounds like it might be an insurance battle to get approval, so I won't delay moving ahead with treatment. But I just need to know. For me (could do mastectomy later), and for my girls.

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  • besa
    besa Member Posts: 1,088
    edited December 2015

    Both my sister and I were diagnosed with bc. My sister was 49 and I just a few years older. There is not a big history of cancer in the family but on my dads side of the family, going back a number of generations, there are almost no women. I am interested in genetic results not just for me but, much more importantly, for my daughters.

    I have Ashkenazi heritage and came back BRCA 1 and 2 founder mutation negative. The founder testing was ordered by my then MO when I was diagnosed. When the founder mutation test came back negative I felt more testing was needed but my then oncologist absolutely refused to order the test. I saw a new bs and talked about my oncologist refusing to order more tests. The new bs told me my then oncologist "lacked common sense" and immediately sent me to a genetic counselor who recommended BRCA sequencing. (I moved on to a new MO) Insurance easily paid for the additional testing without any issue. As more testing became available I recently (with the advice of a genetic counselor) had the Ambry BreastNext panel.

    After researching things I felt very strongly about my personal need for testing. I would have tested even if insurance would not pay so, at every step of the way, I looked into self pay options.These companies tend to have separate pricing for "self pay" without insurance. This info is often not listed on their web site but you can call the company and specifically ask what they will charge you. Though I didn't not end up using them Color Genomics now has a very reasonably priced panel that does not require insurance.

    Having a positive result on some of these tests (depends on the specific mutation found) may indicate that you will have a higher chance of getting another primary bc and this could influence your decision about lumpectomy vs mastectomy. Also decisions about chemotherapy or radiation therapy can be influenced by the presence of certain mutations.

    A genetic counselor, looking at family history (or a lack family history), age ot diagnosis, type of bc etc. should help you decide if additional testing would be helpful. I agree with Melissa Dallas below - random testing, without any indication, would tend to be a shot in the dark.

    https://getcolor.com/providers/how-it-works


    http://www.facingourrisk.org/understanding-brca-an...

    http://jnci.oxfordjournals.org/content/102/7/NP.2....


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  • MelissaDallas
    MelissaDallas Member Posts: 7,268
    edited December 2015

    What reason do you have to believe you might be at risk for additional genetic mutations? You should schedule an appointment with a genetics counselor to see if there is any basis for worry and additional testing. They only test based on family history based on substantiated suspicion. Just requesting scattershot testing is kind of a crapshoot

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  • LisaAlissa
    LisaAlissa Member Posts: 1,092
    edited December 2015

    Even without family history (for example, a lack of women in the family or unknown family history) a particularly young personal diagnosis can justify testing, if I recall correctly.

    HTH,

    LisaAlissa

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  • BlueHeron
    BlueHeron Member Posts: 154
    edited December 2015

    Thanks, ladies....

    I'm 46, is that considered young?

    My family is relatively small, but we do have cancer (metastatic with unknown primary) in my maternal grandmother, and very young breast cancer in said grandmothers niece, late 20's I think.

    It's true, these mutations are more rare. But if I did have one that seriously increased my risk of recurrence, I'd be changing my whole treatment plan.

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  • besa
    besa Member Posts: 1,088
    edited December 2015

    http://www.cancer.gov/about-cancer/causes-preventi...

    In terms of BRCA testing under age 50 is considered young. Does your genetic counselor recommend testing if your insurance coverage was not a consideration? Even if the genetic counselor does not feel you meet your insurance company's medical criteria - if you feel very strongly about testing and can handle the cost without insurance could you ask your genetic counselor or physician to order the test for your peace of mind?

    I see insurance coverage and a script for testing as two separate issues. (In my case when I tested my insurance company would not cover genetic counseling but would cover my Ambry genetic testing. I had to pay for genetic counseling completely out of pocket..)

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  • BlueHeron
    BlueHeron Member Posts: 154
    edited December 2015

    I'm traveling today, will be home tomorrow and plan on making a phone call to find out. I will ask these questions, about insurance vs opinion. Thank you!

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