Genetic Testing Decision Making & Barriers Youve Faced?
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Rah2464: I wonder too if I will be able to get ins after I retire and go on Medicare.
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For those who may not be aware, most insurance will cover genetic testing if you have Ashkenazi Jewish heritage.
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BC for the third time, twice left, now right. There are not many women in family for comparison, but I might be the first with bc. Tha thankfully my sister remains BC free, but I do have concerns for her daughters. After the third occurrence in 2019 the oncologist suggested a genetic profile specific to BC, 20+ markers looked at, none found. The insurance company denied the claim, stating that genetics had no relevance to diagnosis or treatment. I called the lab, and they said they encounter that now and then and would work with the insurance company, but the highest cost to me would be about $150. Months later I called the lab, they were still working with the denial. I have not heard back from insurance or the lab. In 2021 when it became metastatic, the oncologist recommended another genetic test for 70+ markers, different lab. The report was inconclusive for almost all of the markers. Highly ER+ which I already knew, maybe AR, and 10% PDL-1. A footnote on the report said that a technical error had occurred, and there was not enough sample to rerun the test. The oncologist was unconcerned, saying that for those other markers, there were no specific treatments. In frustration, I called the lab to find out what happened and that I was not going to pay the bill. I never did find out what the technical error was, but they agreed to not make me pay. So is it worth another biopsy and genetic profile?
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BlueGirl, when I read you post it sounds like there may be some confusion between:
Genetic testing of the person for inherited (germline) genetic mutations that carry an increased cancer risk, such as Ambry. These results might lead to extra screening and prevention measures for the patient and any family members who also test positive for the mutation. Some germline genetic mutations can also impact treatment; for example, a woman with a BRCA mutation might be given a PARP inhibitor.
And
Genomic testing of the tumor aka next generation sequencing, such as Foundation One, Guardant, etc. to help direct treatment choices. For example, a PI3KCA mutation would make alpelisib/Piqray a possible treatment choice.
Maybe your 2019 profile was genetic testing, and the more recent one was genomic testing?
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Mod thanks for the interesting questions,
I diagnosed stage 4 at the beginning (de novo), I was confused about what just happened to me despite no family history (as I know of) and being healthy. The only thing I really wanted to know was/ still is to confirm it is not genetic so at least I feel my family members are safe. BS, pcp, second opinion all recommended genetic testing right away. The barrier was the MO, yes my MO stood on my way to get genetic test done, simply he said no (capital n o) to genetic testing. Don’t get me wrong I am seeing in a nci designed cancer center, a well known teaching hospital in the state, that suppose to follow standard protocol. anyway, with a lot of push to second BS, she ordered ‘my risk’, not sure how legit this test is, I did it several months after my treatment started. I don’t know if my logic is correct but I wanted genetic test done before I started any treatment, I thought treatments might affect the accuracy of results. I never get to consult with a genetic oncologist.
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snowdrop,
Please remember that family history, i.e. genetic mutations are found in only a small minority of bc cases, about 15-20%. The majority of bc patients have no known genetic mutations. Your genetic test results would not be affected by treatment. Treatment cannot change your genetic make up. It is unfortunate that you had no genetic counseling, but genetic counseling usually goes hand in hand when patients have a higher chance of actually having a mutation. At present, wholesale testing of everyone who is dx’ed with bc is not economically feasible because it doesn’t bear fruit in the majority of cases. Take care.
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Snow-drop, you are concerned and so are some of your doctors, I would insist on an appointment to meet with a cancer genetics specialist, and let that person walk you through the NCCN guidelines for genetic testing. This specialist is most able to say whether you meet the criteria for testing, and what kind of testing. Your surgeon and your medical oncologists should not have the final word as it is not their area of expertise. Perhaps your PCP can get you the appointment. If the genetics specialist thinks you do not need testing, at least you will understand why and hopefully gain more peace of mind. If young age or limited family history apply to you, that might qualify you.
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The breast surgeon who diagnosed me told me directly that there has to be a genetic mutation in my family because of my age at diagnosis and she was right.
Five years later after my diagnosis I found out on my paternal side that besides my aunt.. my great grandfathers niece, and great nieces (my cousins) all have had breast cancer! So that makes about five of us on my paternal side with breast cancer before 40.
We are of African/Black descent and there is not alot research on mutations in Black women however, there has to be one, this is too coincidental.
Upon diagnosis I was tested for mutations and there weren't any, so I completed a counseling session with a genetic counselor in June in hopes of some new developments...however there weren't any. The blessing is that there weren't any barriers in getting tested both times, my insurance covered it.
Its sucks, there should be more research done on genetic mutations in non White women
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Jinx, I agree with you about the need for more research outside of white women. If it’s any comfort to you, not only do I have bc but my paternal grandmother had bc and my sister had a uterine sarcoma (which may of may not be related). On top of that we are Ashkenazi Jews who have a much greater likelihood of BRCA mutations. I have had BRCA testing and the full Ambry panel and not a single known mutation was found. There is so much that is still unknown.
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exbrnxgrl and Shetlandpony thank you both for your advice and suggestions, I’ll definitely look into get a consult, my MO nurse just notified me my F1 report is ready. I am not high jacking this thread as the Mod wants to know barriers on the way of getting genetic test. But I know I have million questions about what I’m gonna read on the report (in few days, as soon as I receive it, so I’ll post my questions on the “ genomic testing for stage IV “ that Moth started. I hope to see you there.
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Thank you for posting. All of you. Like with blood donations, all races need to be in the pool. For genetic testing, it is the same. We all may carry different genes, and donating puts the info out to lead to research. I am not sure i would have even been tested, if i did not arrive at the City of Hope in Duarte where cancer care and research is what they do. I am a caucasian gal who NEVER thought she would get breast cancer. Melanoma yes, but not breast cancer. The testing got me the info i have a BRCA-2 mutation!!! Treatment changed immediately. First mass my friends said could likely be fatty tissue, was not. Added biopsy on my ultrasound said cancer. BRCA-2 says ovaries/fallopian tubes and double mastectomy. Next monday I get a pelvic ultrasound. I had one at 42. I did receive my pap smear back from last week. NEGATIVE!!!! One for sure positive for my women's parts.
Sept 14 I have genetic testing. The form from the test i did will be reviewed by the Doctor and get sent to my sister in NY. My prayer is she will not have this gene. My older sister may soon be tested soon. My mother and great grandmothers had BC. Not sure which side has this gene.
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It seems like genetics will be driving a lot of research and hopefully leads to better/earlier diagnosis and targeted treatment, and includes "everyone" so there are not gaps of knowledge in populations Insurance actually denied a claim in 2019 for testing specific to BC. Nothing found. Lab said they were working on the denial, still have not heard anything. Interesting article in recent Scientific American on auto-immune diseases disproportionately affecting women (estrogen becoming a suspect). Also thought on XX chromosomes with one being turned "off" in women.
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bluegirl,
I am not 100% sure but I believe the cost of testing for genetic mutations related to breast cancer has gone down. Might your insurance company reconsider if it’s not as expensive? I had my first tests for just BRCA genes in 2011 and the full Ambry panel at least five years ago so I may not be totally up to date on the subject.
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I had genetic testing and my her 2 was positive I've had a bi lateral mastectomy done in 2017 under gone chemo for 2 yrs recently 3 weeks ago came off chemo
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Though it's not exactly "genetic", I am being blocked by my MO from getting a BCI test done. I am at a 5yr mark and he suggested I take the test but ONLY if I agree to abide by the results, meaning if it comes back and says the likelihood is I won't benefit from any further anastrozole he won't prescribe it. I would probably take the test and then decide, and maybe even take the advice. But what bothers me is that the dr is looking out for the insurance co and not me. Wondering if other women have had similar experience?
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TimeforCure wow that seems pretty authoritative to me. He isn't your Dad, he is your oncologist. You get to decide how you want to respond to a test result based upon his recommendations. Sorry but that would rile me up too much I would have to either come to an agreement about the doctor/patient relationship direction or find another MO.
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I would ask another MO. At City of Hope, they have strongly suggested their treatment plan for me and i am doing it. I am only at my 4th infusion tomorrow, and it was the gene test and the BRCA-2 finding that moved me from 4 in 3 months to 12 in 3 months. For me, no test and i would not have known. I had a pelvic ultrasound and a cyst was found in one ovary. Nothing in the other. I went to an appointment last week knowing in the near future I will have my fallopian tubes and ovaries removed. My pap smear was negative. I want to be in the know. My body. I want the truth. Maybe it may take a while to absorb, but i want to know.
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I am 72 years old with mixed ductal and lobular invasive cancer 1.3cm in my left breast. I am HR+, HER2-, no involved nodes as yet known (I have not had surgery yet due to a large, resolving hematoma after my stereotactic breast biopsy last May). I have been taking Anastrozole since June. When my MammaPrint test came back High Risk (but on the bar graph, at the low end of High Risk) my medical oncologist recommended TC chemo, 4 rounds. Researching cold capping, I discovered that it was available fairly close by, but at another location within the oncology network. My medical oncologist referred me to a medical oncologist at that location. He was not confident that my MammaPrint results (prognostic) were enough to subject me to the side effects of chemo and wanted to see how my Oncotype DX (predictive) results would look. If they came back High Risk, we would go ahead with chemo. My Oncotype DX came back with a Low Risk score. I will meet with my original medical oncologist tomorrow and my Breast Cancer Navigator wants to bring these semi-conflicting results to the semi-monthly Tumor Board meeting for review. Whereas I feel like I should be jumping for joy at my Low Risk results, I am tentative and waiting to see what my original medical oncologist and the Tumor Board say. I am now 95% certain that I do not want to have chemo.
If anyone has had similar somewhat conflicting results from their genetic testing results (I also had BRCA testing, which came back negative), I would love their input.
Thank you,
Ilene
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Hello, ilenef, and welcome. This is an important question. I think you will get more responses if you re-post in the forum called Diagnosed and Waiting for Test Results (link just below). You can start your own thread, or jump on one that is already going.
https://community.breastcancer.org/forum/147
This particular thread you have posted on is about genetic testing for inherited mutations that increase the risk of cancer. But Oncotype and Mammaprint are tests done on tumor tissue to find out more about the biology of the tumor, and what kind of treatment would be best.
Here are some previous threads on Oncotype and Mammaprint:
https://community.breastcancer.org/forum/69/topics/823113?page=1#post_4240504
https://community.breastcancer.org/forum/147/topics/814504?page=1#post_4079569
Also, you may want to discuss with your oncologist the following 2019 paper from the journal Nature, which describes a test developed for ILC called LobSig (not yet available) and how much to trust the currently available tests in cases of ILC.
https://www.nature.com/articles/s41523-019-0113-y
"Molecular diagnostic tests, such as OncotypeDx, remain of limited value for ILC, since there is a paucity of data on their suitability and they were not developed on this tumor histology. Differentiating which patients will do well long-term on endocrine therapy and could be spared chemotherapy treatment-associated morbidity, and, which patients require aggressive treatment remains unclear. In this study, we have derived the first meta-gene signature focused on prognostication in ILC."
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I was diagnosed Stage IV deNovo 2017 and was told I was not a candidate for genetic testing at the time due to-
- no family history
- age at diagnosis (59)
- HER2 positive subtype
My current oncologist thinks I should have genetic testing done. I haven’t made the appointment yet and I wonder if insurance will cover it for me
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OLma61: I don't know anything about your dx but I would get it done. My ins co 1st denied coverage and then ended up covering it. I gave the testing place permission to act on my behalf when dealing with the ins co. Took a few months but in the end they did cover it. ( I had the test done before ins said it would be covered) More knowledge is power. Best wishes.
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I am 60, just turned 61, and my cancer hospital covered it as it was in a study for them. But I am meeting with a genetic DR to cover the findings on the 14th. I already know i have the BRCA-2 gene mutation. I did not have family history either, but it turns out BRCA-2 also may lead to ovarian, prostate, melanoma and more. My family has passed from those, on both sides of the family. Genes provided more info. I say let the insurance company deal with it too.
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Olma - check with your insurance and with the labs. It will probably need to be "ordered" by your Dr. Find out about Co-pays/deductibles etc, Some labs may have programs as well to reduce costs. There are targeted treatments for some markers/genes, and it would be worth finding out about.
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thanks for all your suggestions ladies I will give it a go
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Today is my first day as a member on this site! My mom was diagnosed with stage IV pancreatic cancer in April, and then she realized she's the 4th in her family to have had pancreatic cancer. She had genetic testing done and found it was the ATM gene. My aunts, my sister and I all got genetic testing through Kaiser, no questions asked. I discovered that I also have the ATM gene that my mom has. Coincidentally, my paternal aunt also has breast cancer right now, although I'm not close with that side of my family so I don't know what stage and whether or not she had testing done. I joined today because I have so many questions based on my results. Even though I understand that in the general population breast cancer is a much higher risk than pancreatic cancer, I feel like in my particular case pancreatic cancer is more worrisome. I've spoken with the oncologist about preventative measures for breast cancer including mastectomies and drug therapies but I'm not really sure whether either of those is a good route for me.
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Clairer217, I am sorry to hear of your family's cancer losses, and darn, that test result is not news anyone wants to hear. It does, however, give you the power to make informed decisions and to undergo appropriate screening going forward. You said you spoke with the oncologist. You really need to speak with a cancer genetics counselor and/or physician get help with what this test result means for you. When my genetic mutation was found (MSH6), these specialists told me in numbers the lifetime risk and typical age at diagnosis for various cancers associated with that particular mutation, and the evidence-based recommendations about what kind of extra screening or surgery one can do and on what schedule. This is a speciality field and an oncologist can't be expected to keep up with that specialty as well as his/her own specialty.
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Shetland Pony- Ditto what you said.
clairer217-My MO covered only my BRCA-2 diagnosis and all the study implications. My geneticist appt on Sept 14 was set up by my Medical Oncologist. She cannot speak to the other findings. I look forward to getting an explanation to the report i was given, but have not tried to decipher. Let the professional give me their findings. My younger sister is taking my findings to her MO. They gave her entry into a geneticist appt. using my findings to see what we may share. Once we find the questions to ask that we really want answers to, we ask. We are behind you.
K-Gobby
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I had Ambry Cancer Next Gene Panel (tests for 36 mutations) bc sporadic cancer and other types on mothers side. Mom and 1st cousin had bc and survived it. My United Health covered the 40k bill for the counseling and testing. All came back negative for any mutations. I was surprised. I got my results back after my lumpectomy. Go figure.
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My sister & I were encouraged to have genetic testing for BRCA mutation after my niece tested positive for BRCA1. My sister tested first & was positive so I tested. The lab she used offered free testing for family members within 90 days of her test. I also tested positive and close monitoring began immediately. I had one normal mammogram and 6 mo later my first MRI revealed what turned out to be stage 1 tumor. I had bilateral mastectomy but did not have radiation or chemotherapy. My sister & niece both had prophylactic mastectomy & we all had prophylactic oopherectomy. We all feel that genetic testing saved our lives.
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I got genetic testing based on the fact that I was 35 at diagnosis and unknown paternal family history. Initially, insurance said they wouldn't cover it. Myriad called me to set up a payment plan. $15 a month. Then I guess insurance covered it anyway because I never recieved a bill. My test was positive for an ATM mutation (hello clairer217). No known breast cancer in family. Lung, colon, and head and neck though.
I met with a genetic counselor. ATM comes with an increase risk of breast, pancreatic, and colon cancers that we know of. There is research that suggests the risk for many other cancers. I will be having yearly MRCPs to monitor the pancreas and colonoscopies every 5 years.
Also, if both parents have this mutation, their child will have a severe disease called Ataxia-Telangiecstasia.
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