Genetic Testing Decision Making & Barriers Youve Faced?
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Shetland Pony - thank you, I should've elaborated. I spoke with the genetics counselor first, who then referred me to get my mammogram and comprehensive breast exam. From there I was referred to the oncologist (specializing in breast cancer) and general surgery to talk about options. I was also told that the endocrinologist recommends MRI for pancreas at 50 (3 years from now). So far I have been told that they cannot really tell me at what age I might be at risk and that the risk factor is based purely on the fact that I have the ATM gene, and has nothing to do with my family history. Hmmm... But given the fact that 4 women on my maternal side have had pancreatic cancer I feel like that should be the greater concern despite the fact that breast cancer is more prevalent in the general population. So I've got all the screenings figured out for both breast and pancreatic cancer; I'm just trying to figure out if perhaps I want to do a double mastectomy or the estrogen drugs at some point, but I'd hate to go through all that if I should be focusing more on my pancreas!
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First time poster here. I was diagnosed at 60 with Stage 1 IDC, Grade 2 with DCIS - luminal A. I had a lumpectomy in September of 2019 with 6 lymph nodes removed. None were positive but I did have lymphovascular invasion and a focally positive anterior margin. After a second opinion I decided to go with radiation with boost because the tumor board concurred that I would have similar outcomes and I really did not want to go through another surgery. Hormonal therapy with Anastrozole for 15 months before joint pain hit and I was having a hard time walking (I have bad knees to start with) so I gave myself a medication holiday for 10 weeks before starting on Letrozole which I am taking every other day which my oncologist did not advise doing. So far doing okay but time will tell - it must be working because I am having nasty hot flashes. Posting because my new oncologist was on the fence about genetic testing given my age at diagnosis but I have 2 daughters. My paternal great aunt had breast cancer and mastectomy and I have a paternal aunt who died at age 52 with cancer. Supposedly it was bone cancer but this was 1982 and everything was hush hush and I wonder if this might have been a Stage 4 De Novo diagnosis. Thoughts?
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Welcome, bitchonwheels, and thanks for sharing your story. We hope you're able to get some answers regarding genetic testing, we certainly understand why you'd want to have it done.
The Mods
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I met with the geneticist yesterday. I have one other gene classified as not enough known to be a benign or pathogen issue now. So i am to follow up yearly by them to me or me to them, to see if research has turned anything up. All in all, they checked nearly over 150 genes, and just the BRCA-2 gene is positive for me. Stage 2 cancer. 12 infusions, 6th is Friday. Then 4 more every 2 weeks. Then surgery. I found out my sister who is local and brother can also go to the City of Hope in Duarte. No cost. It is in our best interests as a family and for the research info the COH will determine on our family, that may keep generations healthy. My brother wants to go. He can talk to the same geneticist. My sister is iffy. I wonder if she will give her blood to be tested? My younger sister in NY received the family letter to share with her doctor that speaks of the finding for me.
The geneticist feels like it is likely my Mom based on the cancer in her family and not so much but skin cancer in my dads. An infusion at a time. See if new symptoms come up. IF the funky cancer rash goes somewhere else. For sure, i have just a bit of hair left on my head. Little on my legs. the BIGGEST acceptance i had so far. I did buy one wig of 2 so far that i like. Nearly my hair color. I am wearing it more and more. I have those caps, as i have a very white, never sun burned scalp i need to keep that way. This skin and red hair was genetics from Mom and Dad.
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In 2014, at the age of 42, I was diagnosed with IDC with Lobular Features. My Oncologist asked if I wanted to do genetic testing. I agreed, so he put in a referral for me to see the Genetic Counselor and have my blood drawn to check for any gene mutations. I had my appointment about five to six weeks later and during the appointment, I learned that I had the ATM gene mutation. I was told by my Oncologist, at UC Davis Cancer Center, (where I work) that I was his first ATM gene mutation patient and that he really didn't know what to expect with the treatment outcome because this would be a first for him. That was scary to hear! We discussed my family history. My mom only knows of skin cancer on her side of the family and my dad thinks his sister had kidney or liver cancer. Neither of my parents are close to their relatives. I was informed that my two adult children, my brother and parents could get tested for the gene mutation and their insurance would probably cover it since I was positive. It was very easy to get the approval for me to be tested. My parents have Medicare insurance and it took a few weeks longer to get approved. I simply gave my family members each a copy of my positive results and they submitted it to their physician and it was provided to the insurance company for approval. My brother and mother were both negative and my father and my two adult children were positive.
Since we are at risk for colon cancer, my children and I get colonoscopies for 5 years in stead of every 10 years. Also, my 29 year old daughter can get breast MRI's and ultrasounds, instead of having to wait until she is 40. Of course, not every doctor will agreed to this but hers did. We are at risk for pancreatic cancer, colon cancer, breast cancer and possibly ovarian cancer. I recently found out that some insurances will cover MRI's or scopes, every so often, to detect pancreatic cancer early.
I have been in remission for 6 years now but my daughter, she is 29 yrs old, now has Thyroid cancer. I am so glad that we all got tested because it made my daughter more cautious when she got a lump in her throat. If we hadn't known about our mutation I truly believe my daughter would have put off going to the doctors and that could make a big difference in her prognosis. I encourage every cancer patient to get Genetic Counseling so they can educate themselves, be more aware of their body and know the risks.
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When I was diagnosed, I asked the Kaiser surgeon and oncologist about taking the BRCA genetic test, but was told I didn't qualify because of my age (63) and no family history of breast cancer or, actually, any cancer. My cancer was caught very early, was very small, was quite localized, had not metastasized, no lymph nodes were involved, was Stage 1A, and the Oncotype was 10. I had a lumpectomy and 1 month of radiation. I'm now taking an AI for the next 7 years.
I did look up information about independent tests that can be taken -- and set it aside.
I felt what had occurred and what I knew about treatment and any genetic issue was fine and not an issue to keep working over. For me.
Both of my sisters have been fully informed about my diagnosis, treatment and I have let them know about my check-ups as I now move through taking an AI for a total of 7 years.
However, when I shared that Kaiser would not cover any genetic testing of me, one of my two sisters went through the roof. She is an RN herself. And on her husband's side of the family, a sister-in-law of hers (husband's brother's wife) had breast cancer in her 30s and the BRCA gene was found. Her two daughters carry the gene.
Since sharing the info that "Kaiser will not pay for the BRCA screening," my sister the RN hasn't spoken with me or emailed me. Nothing.
I'm sad that she's evidently angry, but I really feel she is out of line to be angry with *me.*
I'm not feeling guilty about not insisting on the test and/or not paying for it out-of-pocket, but I am sad my sister has shut down for now. I hope she will eventually come around.
Exactly what obligations DO we have to our families in cases like this? I could not imagine that I would go through all of this - "surprise" bad mammogram (no signs at all of BC), ultrasounds, 2 MRIs, 2 surgeries (don't ask), a month of radiation, and now am moving through 7 years of Rx that is a pain (just to have to remember "breast cancer" every single frickin' day as I take the AI and my hands DO hurt 24/7, which is a common AI side effect just sucks) - and someone close to me is angry because I am not tearing apart Kaiser over their decision.
Of course she is worried about herself. I got it. She does have a daughter, now age 30. I got it.
My other sister has one son. And I have a brother who has 2 sons.
But again, no family history. This hit me in relative "old age." The type and seriousness of the cancer is also, thank god, relatively light and small. Of course it's big to me. But I'm carrying all of the BC stuff AND the family member anger with me.
I can ride it out. But it sure hurts to be closed out on something like this. Thoughts?
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MicheleH57,
I feel like I’m missing something. Why should your sister be mad at you because Kaiser wouldn’t pay for genetic testing? Everyone who is dx’ed with bc is not routinely tested for genetic mutations. Genetic mutations account for the minority of bc cases, 15-20% so it is hardly surprising that not only Kaiser but many of the traditional insurance companies have criteria that needs to be met to have genetic testing covered. What does your sister 3xpect you to do?
I am also a Kaiser patient but belong to an ethnic group that has a higher incidence of BRCA genes so I got the golden ticket. Despite my ethnic heritage and several cancers, including breast, in my close family, all tests have been negative.
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Michele - as I shared above, I was also not referred for genetic testing at diagnosis. My sister didn’t get mad at me but she kept mentioning that I should have it, so the family can know if they’re at risk, etc. I told her nothing is stopping HER from being tested if she thinks it’s important, and I even gave her the link to color.com, where, at that time, they were testing for a few breast cancer genes for quite a low price. I think it was $200 back then if I remember correctly, but most likely that has changed.
Anyway she stopped pestering me after I told her that. It surely is not your fault if your health plan won’t cover it and I would think that an RN should understand that not everyone gets referred or needs to have genetic testing for BC. Although, the consensus seems to be shifting, and there seems to be a push to test more people with BC
Sorry you have this additional stress, though.
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Cancer Research hospitals do many studies, so they were more than happy to have me join, knowing my mom had breast cancer when she passed away. A couple more melanomas in the family and that clicked. Had I of said no to the study, I would not have known i have the BRCA-2. I have been told by friends with Kaiser, that genetic testing is not often an option. Yet I have a friend who had breast cancer, that was taken out completely in the biopsy! Her mom had cancer??? When is it best to do it? Is my friends really gone?
I am sending my brothers my geneticists family letter on my gene, and one of the two brothers i already know wants to be tested. One of my 2 sisters. Any of them can now be tested at the City of Hope for free. The study info the COH will get from my family as a whole, will help others as the get findings from this research. In the end, each of us gets to choose. For my older sister, does she really not want to know?
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K-Gobby,
It’s not just Kaiser. Many insurance companies will not cover gene testing if you don’t meet certain criteria but like Kaiser will happily cover it if you do.
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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.
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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 color.com with her. And it's still $200 for the test. It is her decision to make.
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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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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+.
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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.
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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.
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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.)
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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.
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Invitae coves it for COH in California and Roswell in Wester NY. I bet across the country. Mine was free as I volunteered to be in a study. After I received a Brca2 positive, my younger sister tested. Brca2 +. Her 35 yr old daughter is Brca2 +. My older brother just got tested. I was tested in August of 2021. I thanked him for doing it. He and I are long time platelet donors at the Red Cross. I had to stop with my cancer treatment. My brother? Brca2+.
Three of 5 siblings, one niece. My older sister would rather take her chances. No test. Younger brother will be told by older brother. He works at the place I donated. He may have done it. I notified my relatives related to my Moms brother. My COH geneticist believes it is likely my Mom. Yet, cannot rule out my Dad without more info from that side. He passed away in 2000. From squamous that metastasized.
Grateful for sure for those who posted they are free of mutated genes. Relief!
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I *finally* had the genetic test done through Kaiser-Permanente using Invitae. In January 2020, I was told by the oncologist that I likely did NOT meet the criteria to ask for the test - my age, early stage, small tumor, no lymph nodes involved, no BC on either side of the family. He just ruled it out and we moved on to other issues around recovery.
This year, January 2022, a new oncologist with whom I'm working said, "hey, let's see what the genetics counseling office has to say." So maybe the "rules" changed? I'll have to ask her.
I met up with a genetic counselor within Kaiser by phone earlier this month, and she decided that due to pancreatic cancer in the family(my mom's dad) plus my BC, I qualified.
That did NOT mean that Kaiser paid for it! It was my expense to handle. Although if I had met my deductible this year (I haven't) I'd pay 40%. OTOH, it was not ridiculously expensive ($250) to have 49 genes examined and a report written and delivered.
So my husband and I said let's go ahead.
The report came back 6 days after I had blood drawn for the tests at the Kaiser lab. Very quick!
There were NO mutations on any genes. That included the BRCA1 and 2 and PALB2, and others that affect proteins that might lead to other illnesses. It also included the test on the gene for prostate cancer. That's not a "need to know" for me, but it's good info for my son to have. Although it'd be better if he had same info from his dad's side.
I shared the info with my 3 siblings, 2 sisters and one brother. So far I've heard from only one of them.
I was somewhat glad that the sib who responded - short, curt, "thanks for letting me know. hope all is well" - was the sister who blew up 2 years ago when I told her that Kaiser would NOT give me an OK to talk to a genetic counselor in order to determine if I could get the blood test. She was furious at that time. I know she wanted to know STAT if she and her daughter and 2 sons might be affected by what I was dealing with. Got it. But this was, for me, right at and still at the very end of the surgery in both September and October and full month of radiation in December. The woman had NO empathy and didn't get that I had NO power at that time to demand a test. And she's been an RN for 30 years. Hope you all have a better experience all the way around!
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Cancer research hospitals often ask if you want to be in a research study. I said yes at COH. My test was no cost. I think $250.00 is reasonable, same lab as mine. Over time, many more will get genetic tests. Too much is at stake.
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michele,
Of course, there are different plans available through Kaiser.My plan paid for complete genetic testing and counseling and did so several times over the last 10 1/2 years as more tests became available. So my guess would be that it is not Kaiser that didn’t pay for it but the fact that your plan didn’t cover it. I should also add that I did have a family history and belong to an ethnic/religious minority that is at higher risk for BRCA genes and a few other mutations.
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I had genetic testing a few months after dx. Lab called me and asked if the insurance didn't cover it would I pay the $175 to do the testing. I said yes and they asked me to sign a paper allowing them to work with insurance company. I agreed. I tested negative. Fast forward about 4 months and I get an EOB from my insurance saying they would not pay the $4620!!!! the gene company was billing them for the tests. So I paid the 175. That is just what's wrong with for profit medical care. It was a company out of California. ( I guess we can't name names on here). My girls were tested for BRCA but I don't know if they had to pay anything or not. If my brain fog clears I will remember to ask them.
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it is ridiculous. Genetic testing g has proven results. One day I was to get the Red Devil chemob4 times every few weeks. The next day I got a callmy genetic test was positive and my chemo plan was changing. 12 weekly of Taxol/Carboplatin and then the 4 Red Devil. No genetic testing? No treatments for thr mutated gene I carry. Anything up to $500.00 is worth our lives. Sounds like a law will get passed one day as our right to treatment of breast cancer and its affects.
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