Topic: Genetic Testing Decision Making & Barriers You've Faced?

Forum: Genetic Testing — ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, and mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM)

Posted on: Aug 11, 2021 01:57PM

Posted on: Aug 11, 2021 01:57PM

moderators wrote:

Hi all,

We're looking for members to share their experiences with making decisions regarding getting genetic testing and any barriers you have faced in doing so. If you'd be willing to share your story, could you please post here or send us a PM? Thanks in advance!

To send a PM to the Mods: Surgery 5/10/2022
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Page 8 of 8 (78 results)

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Sep 21, 2021 12:23AM elabee wrote:

I was offered genetic testing because I was 34 when I was diagnosed. Initially, I was only tested for BRCA with the option to test for a TP53 mutation that causes Li-Fraumeni syndrome if the BRCA tests came back negative.

The genetic counselor emphasized it was optional to have the TP53 testing. I could choose to get the testing but it's rare with an 8% chance of having it and that it was likely insurance wouldn't cover the cost of the test. The woman I spoke to at the Ambry lab to give my consent, convinced me, if it wasn't covered by insurance, my out-of-pocket costs would be less than $100. I was expecting it to cost $1k-$2k.

In retrospect, with my age at diagnosis, family history (maternal grandmother-breast and later ovarian cancer, maternal-uncle liver cancer), and background (my father is Brazilian), it absolutely made sense to have the test since the mutation could easily be from either side of my family tree.

Sure enough, I tested positive for a TP53 mutation and Li-Fraumeni Syndrome (LFS) which has a lifetime cancer risk at 50-90% for all cancers. The diagnosis changed my treatment plan from lumpectomy to double mastectomy and no radiation since it could cause a 2nd or 3rd cancer in the radiation field for folks with LFS. My identical twin also tested positive while everyone else in our family tested negative meaning we're de novo.

My sister was able to have a prophylactic mastectomy and we both undergo the Toronto Protocol screening for LFS. We participated in some additional genetic testing 3 years ago for the TP53 gene since technology has become refined and we were found to be mosaic (even more rare).

It was really difficult knowing about LFS and you always wish you didn't have it. It can be really stressful with the merry-go-round of appointments and despite having insurance the visits/tests/scans aren't cheap. Without a doubt, the genetic testing has meant that my treatment plan was adapted to improve my chances and the screenings help my sister and I stay vigilant.

Chemotherapy 12/13/2013 Carboplatin (Paraplatin), Taxotere (docetaxel) Targeted Therapy 12/13/2013 Perjeta (pertuzumab) Targeted Therapy 12/13/2013 Herceptin (trastuzumab) Surgery 5/9/2014 Lymph node removal: Left, Right, Sentinel; Mastectomy: Left; Prophylactic mastectomy: Right; Reconstruction (left); Reconstruction (right) Surgery 2/4/2015 Reconstruction (left); Reconstruction (right) Hormonal Therapy
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Sep 22, 2021 08:32PM micheleh57 wrote:

Thank you Olma61 and exbrnxgrl: I have no idea about what *really*caused her anger, but being an RN who has always doggedly burrowed down the "rabbit hole" on so many cases and issues (that she's shared), she may have put herself in my shoes in her mind, and thought "You surely could lobby harder to get what I would want to know as a medical professional!" And that came out.

Or maybe she was just totally stressed by the thought that "Cancer Has Really Come to Town" for her own family. Or she was reflecting on her sister-in-law and her experience and identifying with the SIL on "that" side of the family. And that's even knowing I'm not in my 30s and we have no history and this was caught early and small and is really considered pretty "textbook" in the grand scheme by everyone on my team.

I did share the info from with her. And it's still $200 for the test. It is her decision to make.

Hormonal Therapy 1/4/2021 Arimidex (anastrozole)
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Sep 25, 2021 07:31AM Cargill2103 wrote:

April 2019 I was sent to Dr. Sastry Columbia, MD to look into genetic testing she is oncologist/hemotologist. I was high risk for breast cancer since mother, younger sister, Great Aunt, Aunt and Cousin all on mothers side of family had had it. She informed me that Medicare wouldn't pay for unless I got cancer. My ob/gyn was very upset because the test would cost $1500 which I didn't have. Long story short, as I was sitting in her office, I had been misdiagnosed as undefined cyst..but a year later was correctly diagnosed as invasive lobular carcinoma. Grade 2, Stage 1b and 5 lymph nodes positive. Dr. Sastry said April 2019 it was recommended I have breasts and ovaries removed. I refused saying when I got cancer I would be okay with removal. Sadly, 1 year later bi lateral mastectomy done, AC-T chemo 16 infusions, 5 weeks x 5 days a week radiation and hormone therapy now. I got tested before surgery dna and I am not brca 1 or 2 but undefined family apparently. They decided not to remove ovaries since post menopause. I am obese so losing weight is cause of estrogen driving cancer I guess and hormone therapy improves my prognosis. Unfortunately first type anastozole broke me out in hives, blisters, blood blisters and other intolerable side affects. waiting for doctor october 26th to see me and possible alternative be rx'd.

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Sep 27, 2021 02:08AM awhbabies wrote:

Diagnosed with aggressive cancer and large tumor at 39. My maternal grandmother died from breast cancer at 35. In 2011, Myriad and BRCA were pretty much the only option, and my insurance approved quickly. Results were negative but with caveat due to a mutation with no know significance.

Fast forward 10 years and new oncologist halfway across the country refers me to genetic counselor since so much research has been done over the past decade. Counselor believed insurance wouldapprove genetic testing due to same factors as before. My insurance covered fully with no copay. I would have opted to pay $250 out of pocket if necessary to get the test.

I have a PALB2 mutation. Invitae offers free genetic testing for my immediate family for 90 days. My mother’s gp group in another state uses Myriad. She didn’t have to pay Myriad because there is currently a study to convince Medicare to cover genetic testing for members. Myriad also provided a telehealth counseling session to go over the results at no cost. Surprisingly, my mother is negative. While my cancer has a source it is not connected to my grandmother’s early death. My mother’s side had the history and not my father’s. He is not getting tested since his sister has no children, is 79 (extra screening isn’t recommended past 80), and has other more pressing health issues. My father’s status also doesn’t affect my sister’s need to test. At 47, the additional screening from an annual breast mri is a pretty big deal. We will tell my son once he is 18 and can decide for himself. His risks are more as a carrier to his children than personal.

Tomorrow I meet with the surgical oncologist. I chose unilateral mastectomy in 2011. I took a chance and kicked the can. I can’t kick it much longer. The right breast will have to go at some point.

I had a large aggressive tumor, relative youth and family history in addition to insurance policies amenable to consider all my factors. I had no barriers to speak of with regard to genetic testing

For those who are interested. Invitae charges $250 cash if insurance won’t cover. They billed my insurance $2735. I figured insurance would pay $4-500 since customer pay was $250. My insurance paid $55.29. I didn’t leave off zeros. My insurance paid fifty-five dollars for a test that was billed at $2700+.

Dx 9/2/2011, IDC, 6cm+, Stage IIIA, Grade 3, 1/9 nodes, ER+/PR+, HER2-
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Sep 29, 2021 06:43PM blessings2011 wrote:

Ten years ago, I was dxd with multifocal IDC, with DCIS. I was 60 years old. My mom had also been dxd with BC at the age of 60, but so long ago that there were no tests to determine the characteristics of her tumor. Other than my mom, and a great-aunt who died from colon cancer, there are few other relatives with cancer in the family.

At that time, I chose BMX with implant reconstruction, as my native breasts were extremely dense, heavy, and fibrocystic. Because of the size and location of the lesions, as well as having the maximum surgery, I didn't need radiation or chemo. I managed to last 18 months on Arimidex first, then Femara, before the severe side effects caused me to stop.

At that time, I wasn't offered genetic testing.

On September 15th of this year, I would have been a ten-year survivor. However, in early spring, I found two tiny lumps under the skin, below my suture line and above my implant on the left side. Because it was right in the middle of the post-holiday pandemic surge, we chose to wait and watch. I underwent a simple biopsy, and then later, a wide excisional biopsy. Both revealed multifocal papillary carcinoma with microinvasion, plus areas of DCIS.

Kaiser has implemented a Breast Cancer Tumor Board since my first dx. My case was thoroughly discussed after each pathology report, and opinions were divided on how to proceed. What they did agree on was a referral to Genetics.

(At issue is radiation and the potential risks to not only my implants, but also my skin – which is compromised by Ehlers-Danlos Syndrome. EDS is a genetic disorder of all the collagen and connective tissue in the body.)

Yesterday I met with the Genetics Counselor – the same one I met with in 2018 when I was dxd with EDS. She explained that back in 2011, genetic testing for breast cancer was quite limited, mostly to BRCA1 and BRCA2, and by definition (older age at dx, no biological children, post-hysterectomy) I wouldn't have been a candidate for BRCA testing. Now, though, they can test for many different types of cancer, not just breast.

Yesterday I had bloodwork drawn for Invitae. It will take 2 – 3 weeks for the results. She requested a comprehensive panel that will look at 60 genes. Should I test positive for any of them, I will then be seen in the High Risk Clinic for treatment. She also said that I might see "Unclear Genetic Variation" listed in the results. This means that there's something wonky, but they don't yet have a clear explanation. In that case, she said it would just be a matter of time before the technology caught up, and eventually I'd get clarification.

These tests will cost me nothing. Seeing the Genetic Counselor in clinic will cost me $10. The fact that I now have "recurrent invasive cancer" was enough to generate a referral to Genetics.

SO – long answer to say that it wasn't my decision to request genetic testing (although I heartily agreed!) and I faced absolutely no barriers in getting it.Smile

Dx 9/15/2011, IDC, Left, <1cm, Stage IA, Grade 2, ER+/PR+, HER2- Surgery 12/5/2011 Lymph node removal; Lymph node removal (Left); Mastectomy; Mastectomy (Left); Mastectomy (Right); Reconstruction (Left): Tissue Expander; Reconstruction (Right): Tissue Expander Surgery 8/22/2012 Reconstruction (Left); Reconstruction (Right) Hormonal Therapy 9/5/2012 Arimidex (anastrozole) Hormonal Therapy 10/22/2013 Femara (letrozole) Hormonal Therapy 10/1/2021 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Dx IDC: Papillary, Left, <1, Stage IA, Grade 1, ER+/PR+, HER2-
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Sep 30, 2021 06:25AM oldladyblue wrote:

I was diagnosed with IDC in June at the VA Hospital. Mammogram followed by MRI last year, and a repeated MRI this year, showed up the lump I otherwise wouldn't have found. I am an Air Force vet from the Viet Nam era so qualify for care there for very low or no co-pays so being in the service from 1974 to 1978 had a benefits that are now extending my life. In June, I was set up with a VA genetic counselor for a phone consult from Utah but the nearest appt was Sept, so I just talked to her recently. She said based on family history of no breast cancer that normally I wouldn't receive genetic testing, but that because both my mother and grandmother died of liver/colon cancer, she was recommending it. I am 64, my mother died at 48 in 1978, and my grandmother at 72 in 1982. My father had lung, throat and skin cancers in his lifetime. I have one daughter and two sons. Just sent the test off, so I will have results in 3 weeks or so to let my children know as they are 26, 28 and 37 with no children yet. Meanwhile, I am starting chemo soon, I was in the grey area of needing it or not with an intermediate oncotype score of 28 so there would be some benefit to chemo. Perhaps there will be ovary removal in the future, it was talked of. We will see what the genetic testing shows. awhbabies thanks for posting that Invitae will do testing for $250, I was considering paying cash if the VA wasn't going to do the genetic testing.

Surgery 7/1/2021 Lumpectomy (Left); Lymph node removal (Left): Sentinel Chemotherapy 10/8/2021 Other Radiation Therapy 1/4/2022 Whole breast: Left breast, Lymph nodes Hormonal Therapy 3/1/2022 Arimidex (anastrozole)
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May 13, 2022 02:01AM blessings2011 wrote:

I just wanted to pop in and say that not long after I posted here last September, I received the results of my genetic testing.

The Genetic Counselor said that my results were negative for all tested mutations known to cause common and rare cancers. I was both floored and relieved.

This information allowed me to make a confident decision to forego radiation (due to multiple other health issues.)

Dx 9/15/2011, IDC, Left, <1cm, Stage IA, Grade 2, ER+/PR+, HER2- Surgery 12/5/2011 Lymph node removal; Lymph node removal (Left); Mastectomy; Mastectomy (Left); Mastectomy (Right); Reconstruction (Left): Tissue Expander; Reconstruction (Right): Tissue Expander Surgery 8/22/2012 Reconstruction (Left); Reconstruction (Right) Hormonal Therapy 9/5/2012 Arimidex (anastrozole) Hormonal Therapy 10/22/2013 Femara (letrozole) Hormonal Therapy 10/1/2021 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Dx IDC: Papillary, Left, <1, Stage IA, Grade 1, ER+/PR+, HER2-
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May 14, 2022 07:01AM oldladyblue wrote:

Hi Blessings, thanks for coming back to post. It reminded me that I never posted my results. I too had no genetic issues that would predict any type of future cancer for me. The genetic counselor suggested that maybe my sister and daughter could get tested to see if they have any predictors for liver/colon cancer, but I did not have to worry for myself about genetics causing future cancer. That was a relief for me, and my sister and daughter decided not to test.

Surgery 7/1/2021 Lumpectomy (Left); Lymph node removal (Left): Sentinel Chemotherapy 10/8/2021 Other Radiation Therapy 1/4/2022 Whole breast: Left breast, Lymph nodes Hormonal Therapy 3/1/2022 Arimidex (anastrozole)

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