Share your Genetic Testing Story
Dear Members,
Would you be willing to share your story if you have had genetic testing. We are interested in the following questions: What led you to doing the testing? What were your results, and what choices have you made based on the findings? Was payment an issue? How have you discussed these decisions with your family? What suggestions would you have for others?
Please share your story here, or send us a Private Message. We will be posting your stories here Community Members share their Stories, in order to inspire other visitors to our site who are in a similar situation.
Many, many thanks!
The Mods
Comments
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I had genetic testing done a few days after being diagnosed with breast cancer because I wanted to find out whether (or not) I was BRCA1 and 2 positive. The results of the genetic tests would have helped me to decide whether I needed to have a double mastectomy. Unfortunately, since genetic tests take weeks to run, I did not have the results back prior to my surgery.
I had three risk factors so I was considered high risk. (I have many family members with breast and other cancers, I was diagnosed before the age of 50, and I am Ashkenazi Jewish.) There was a sliding scale fee through the lab and the cost of my testing was mostly covered. I had an entire panel of genetic tests done.
Luckily, I am BRCA 1 and BRCA 2 negative. However, I found out that I have a genetic mutation that has not been researched yet so it is called a variable of unknown significance (V.U.S.). It is possible that this V.U.S. is for the colon but there is no research on what the mutation is actually for??? Knowing that I have a genetic mutation but not knowing anything else about the mutation is very stressful and anxiety provoking. I had a colonoscopy after finding out that I had the V.U.S. (I had a precancerous polyp in my colon so I am glad that I had the colonoscopy after finding out about the V.U.S.)
The genetic expert who worked with me is phenomenal. She spent hours educating me and answering my questions. She has also spoken at my breast cancer support group. I would highly recommend that everyone have genetic testing done, if possible. I was able to reassure my children after finding out the results of my genetic testing. The genetic testing was a positive experience for me.
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Hi 614 - Thanks for sharing your genetic testing story. How/why were you able to reassure your children after finding out your results? I too have had genetic testing done - am the only one in my family who has been tested. I think I'm glad I had it done, but I can't really say it was a positive experience for me or my daughter. My risk factors are mother and maternal aunt with breast cancer post-menopause, cousin died of cancer premenopause. Maternal uncles died of different cancers - but in their 80's. My probability for a genetic piece was low but I still had the tests. Everything came back completely negative - no inconclusives or variables of unknown significance. I'm 62 and was told I have a 3.5% risk of cancer in the next 5 years - 15% lifetime risk (up to age 90). I wish they would also tell you something like - that also means that you have a 96.5% and 85% chance of not getting cancer. I do not have cancer. I have bilateral faint calcifications -biopsy on one breast came back benign - fibrocystic changes only - no abnormal cells. Calcifications in other breast do not warrant biopsy right now. I'm on an every 6 month diagnostic follow up for 2 years - told this is protocol for all calcifications. When I was given my genetic testing results my oncologist and genetic counselor enthusiastically congratulated me on my negative results. But before I could even take a breath and enjoy that moment, they said, however, you are still at increased risk because of family history. They recommended I remain in a high risk program, and take Evista. They also told my daughter (age 35) that her risk is slightly increased - even though I (her mother) don't have bc. I didn't feel that I could reassure my daughter of much, and now it has been put in my daughter's mind that her risk is slightly increased. GYN told my daughter that her risk is not increased unless I get cancer. Did I miss something at my genetic counseling appointment? I walked away with the same anxiety, more questions than answers, and without relief about risk. I didn't expect that they would tell my daughter her risk was slightly increased when her mother hasn't been diagnosed with bc. I keep reading that most women who get breast cancer do not have family history of bc. It seems like when your mother has bc, you are considered high risk regardless of tests. I am trying to balance out the fear/anxiety, and unanswered questions that I've gotten from medical doctors/testing with Dr. Bruce Lipton's, Biology of Belief and epigentics - I am not my genes. I hope that one day we can all find some peace around this challenging issue. I am grateful for this community and I thank everyone for reading and/or sharing their stories, insights, and coping strategies.
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I was 62 when diagnosed with Stage 1 breast cancer earlier this year. Because my mother and her sister had both developed breast cancer (after menopause) and because I'm Ashkenazi on that side of the family, my breast surgeon referred me for genetic testing, a move seconded by my gynecologist--both women.
I'll digress briefly here to mention that there was a definite gender divide on this matter: my male primary care physician had discouraged me from genetic testing when I asked him about it during my annual physical a few months before my diagnosis, saying it was more useful for younger women, and my male oncologist felt likewise. Similarly, the same PCP and my male shrink commented that DCIS is overtreated in the US and that I probably didn't need a lumpectomy for it. Maybe so, but it was during the pre-lumpectomy MRI that my invasive cancer was found, missed by the mammo that caught the DCIS. So I'm glad I went with the advice of my female surgeon, and also glad that I heeded advice that I've found on this site.
The testing was entirely paid for by my health insurance, or I might not have bothered. It consisted of meeting for two hours with a pair of genetic counselors who helped compile a sort of morbid family tree, followed by my giving a blood sample to be tested for the BCRA 1 and 2 mutations and twenty-one other possible genetic traits.
I ended up testing negative for the BCRA mutations, so I'll hang on to my ovaries for the time being. But interestingly, the counselors felt there's a strong possibility that Lynch syndrome may run in my family, based on our history, which includes lots of cancers on both sides. If you're unfamiliar with Lynch syndrome, as I was, here's some information about it: http://ghr.nlm.nih.gov/condition/lynch-syndrome. (I myself tested negative for it, fortunately.)
Their recommendations: continue to be screened regularly for colorectal cancer (I'm one of the unlucky souls who gets these tests every three years rather than every ten). And I don't have any kids, but the counselors felt I should advise my nephews, the sons of my late brother whom we lost to glioblastoma several years ago, to obtain baseline colonoscopies now, while they're in their twenties and thirties, and to have them perhaps every five years.
So I would say that there are definite benefits to genetic testing, although not always the ones you expect. I found it all quite interesting and I recommend it widely.
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Dear Djabi:
I was able to reassure my children because I did not test positive for the BRCA 1 or for the BRCA 2 mutation. My daughter had a lumpectomy for an egg sized fibroadenoma 3 years ago, when she was 17. Testing negative for those genetic mutations was very reassuring to me because it means that I did not pass along the mutation to my children. My daughter felt much better after I received the results of my genetic testing. My son is 16 so he was never worried anyway. The V.U.S. is an unknown so it is very unsettling but I do not know what the mutation is for. Therefore, I cannot dwell on that. It is totally out of my control.
I had the colonoscopy because they thought that the mutation may have been for the colon. However, I would have had a colonoscopy anyway because I was diagnosed with breast cancer when I was 49. When I turned 50, I had the colonoscopy. I also had my ovaries removed so that I could take Arimidex/Ansastrazole which is an aromatase inhibitor. One has to be in menopause to take aromatase inhibitors and I was not even close to being in menopause yet. I never even had any perimenopausal symptoms.
I felt that the genetic testing was a positive experience because my genetecist is outstanding and she helped me tremendously. I am greatly relieved know that I know that do not have any mutations other than the Variable of Unknown Significance. Since my experience was good, I would highly recommend genetic testing to others.
I wish you the best. It is very difficult to be in a state of constant worry because of the high risk factors. The "not knowing" is very anxiety provoking. Close surveillance every 6 months is stressful but I feel very glad that I am being watched so closely. In fact, I look forward to the tests every 6 months because they are reassuring to me. I trust my doctors completey and I feel extremely lucky because they have saved my life.
Good luck. I feel that this website is terrific and it has been a great help to me. Thank you to everyone here.
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Dear Larkspur:
Wow. I am so shocked by the gender differences with your doctors recommending the genetic testing. That is truly amazing to me. I am really glad that you had the genetic testing done. You may besaving the lives of your nephews. Sorry that you have to have frequent colonoscopies. I will have to have them too. It is interesting because the surgeon who did my colonoscopy told me that I should be retested in 4 years. He told me about the polyp but he said that it was benign so there was nothing for me to worry about. My Medical Oncologist was the one who informed me that the polyp was actually precancerous and she strongly feels that I should have colonoscopies every 2 years. I love my Medical Oncologist. I really feel lucky. Being diagnosed with breast cancer is very difficult but I have had positive experiences resulting from my bc journey. Good luck to you and thanks for your story.
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Thanks, 614. And, yes, the differences of opinion between the male and female doctors in my life are indeed startling, and enlightening. As I grow older and more reliant on frequent medical attention, I'll definitely seek out women physicians when possible.
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I met with a genetic counselor at one of my first appointments with the surgeon. My bloodwork was sent off and I had the BRCA results back in 2 weeks and the other 21 back 2 weeks later. Because of my age at diagnosis (39) it was highly suggested I do it and my insurance paid 100%. I was negative.
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Dear LRFTexan:
Thank God!
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Hopefully everyone reading this knows that, although your health insurance coverage cannot (by law) be influenced by genetic test results, that situation does not apply to life, disability or long term care policies. So, it may be wise to consider those issues and line things up prior to sending in your sample!
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Dear Vinrph:
I never thought about that. Thanks for the information.
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I just met with the genetic counselor yesterday, which was fascinating. Of course, if would be more fascinating if it wasn't about me and my family. My BRCA2 came back with an abnormality in one strand (my term not hers) which may or may not be significant. It's interesting that 5 cousins were testing about 5 years ago and all tested negative. However, since the test was done that long ago and tests were only being done by one company at that time, it's possibly they all have this same abnormality and it was never reported, but it's possible that they don't. I guess this is the game of genetics. However, given the strong family history of breast and ovarian cancers along with Ashkenazi heritage, she is now testing me for the myriad of tests to see if anything else shows up. That's step 1. After those results, they may want to test other family members to see if that BRCA2 abnormality shows up in anyone else. And to add to the fun and excitement, my cousin had to fore site to have DNA banked from my aunt and another cousin before they passed away (one breast cancer and one ovarian cancer) and that could be tested as well. We will become guinea pigs for the genetic testing industry. Then of course, all doctors and genetic counselors (mine and my cousins) all agree that our history is highly suggestive of a genetic component and it's quite possible that it may be a gene mutation that has yet to be discovered. So negative now doesn't mean negative later. Either way, it doesn't alter my course of treatment, but it most certainly does impact other family members and my children down the road.
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this sounds a lot like my story Trickchick.
However my family and me were tested for BRCA 1 gene which is what they have. I am also an Ashkenazi Jew with zero genetic intermingling.
I don't have any mutations either by Myriad testing 22 years ago or the multi gene test pack this July through Color Geneomics. Nothing found.
My cousin and mother died of ovarian cancer and my grandmother and aunt all on same side had breast cancer but didn't die of it.
I thought that it was BRCA 1gene not BRCA 2 was responsible for all of these cancers in Ashkenazi families? Is that not correct?
And right you never know what will show up later when more genetic mutations will be isolated.
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It is both the BRCA 1 and the BRCA 2 that they worry about if one is Ashkenazi Jewish. They were very concerned about me because I am Ashkenazi Jewish. However, no one in my family tested positve for either BRCA gene even though many people in my family had breast and other cancers. There are newer and more accurate genetic tests now so even if one was tested a few years ago, one should be retested again. I have a V.U.S. and it is scary. I am choosing to put it out of my mind and not to dwell on it because there is nothing that I can do regarding my gene mutation that is unknown.Good luck.
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Hi,
I had genetic testing done as my mom passed away due to breast cancer at age 60. My grandmother also died due to breast cancer at age 60, and I have a grandaunt that died due to breast cancer at 70. I have one living aunt that is a breast cancer survivor. Both my mom and my aunt were 49 when they got diagnosed.
I tested negative for BRCA1/2 but the result don't tell me if the cancer in our family is caused by these genes, or if I just did not inherit the gene. Unfortunately my aunt (who is the breast cancer survivor) refuses to get tested.
I am basically treated the same high risk (30% lifetime) as before I had genetic testing. I have started Tamoxifen two years ago, at age 43, at the recommendation of my breast cancer specialist.
I really wished that my aunt would get tested as it is a missing piece of puzzle that would be very helpful to me. I asked her twice. My mom was not asked to be tested, and after my doctor brought it up she was already deceased.
Good luck to you all
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I was diagnosed with breast cancer in February 2015 (age 60) and underwent genetic testing then at the request of my surgeon. Neither she nor her nurse explained anything about it or asked me any questions. It was only after reading up on it that I learned that being Ashkenazi was a risk factor. No doctor, nurse, or mammogram technician had ever suggested or even mentioned genetic testing to me. I don’t think that any of them knew what “Ashkenazi” is. That’s what I get for living in Kansas!
My mother had breast cancer, but there is no other breast or ovarian cancer in my family that I know of. I know almost nothing about the medical history on my father’s side. My paternal grandmother died at age 31, and some great-aunts and cousins around age 60. My sister wants to be tested and is appealing the insurance/Medicare denial of coverage. (They don’t know with whom they are dealing – they should just give up!) I don’t think my brother has been tested, and neither have my first, second, or third cousins that I know of. I have given them all the information I have. You can lead a horse to water ....
I was tested only for the 3 Ashkenazi founder mutations and am BRCA1 positive. Insurance covered the testing costs and my copay was $75. I had a bilateral mastectomy in April, chemotherapy May-September, and exchange surgery in October. I will be undergoing a prophylactic salpingo-oophorectomy-hysterectomy (fallopian tubes/ovaries/uterus) on November 17.
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I was tested for 21 genes at the suggestion of my oncologist and discussion with a genetic counselor. My only paternal aunt had BC in her 70's, my paternal cousin had BC at 41, and my paternal great-grandmother had BC at 45. My family history is not very compelling except that it's all on one side of the family (which was important to the genetic counselor) AND there are very few women on my father's side of the family.
Payment has not yet been an issue, but my insurance has not yet paid for the test, either
I tested positive for one variant of unknown significance on the MLH1 gene. Because a VUS can be (and often is) reclassified later as benign, no changes to my life have been made. My daughters, sisters, and mother know about the testing and know it means nothing right now, as they already have an increased risk of cancer because of my diagnosis.
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I was tested for the full panel of common and uncommon variants shortly after diagnosis based on the recommendation of my breast surgeon because I am 34 and have breast cancer. Insurance covered the cost no questions asked. I did not expect anything to come back positive as I have little cancer of any kind in my family. My maternal grandmother was diagnosed with breast cancer at 65 had a single mastectomy with no other treatment and is still NED today at 85. I also have a paternal aunt diagnosed at 70 who is still alive (not sure of her treatments as we are not that close but I know she is NED and it's been 5 years). I have one male cousin who had and beat Hodgkin's lymphoma in his late 20's but that is it.
My results came back BRCA1 positive. Based on this I decided to have a double mastectomy once my chemo is complete, I was hoping by going neo-adjuvant I could shrink the tumor enough to do the lumpectomy and rads but I am not taking that risk now that I know my genetic status. I am meeting with a gyno-oncologist next week to discuss my ovaries and what to do there, my husband and I were trying to conceive baby #2 when I as diagnosed so we may still want to try after chemopause ends. After talking about the increased risk with my 43 year old sister she went to her OB/GYN last week for genetic testing, so we are waiting on that result and my 64 year old mother is going to discuss with her doctor at her next appointment. I have not had a chance to talk to my maternal grandmother or other aunts about getting tested yet but I would like them too especially my grandmother since she is a survivor.
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Wow Julie! You are doing so much for your family . My family is all BRCA 1 positive . I am not. I had them all tested too 22 years ago. First group of BRCA 1 testing in US but my family hx was much stronger than yours . We are also solidly Ashkenazi Jewish for generations. A lot for you to cope with as a very young woman. Hugs and hope for you and yours
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I am in the process of genetic testing and counseling right now. I was diagnosed in October, 2011 - Stage 3 Triple Positive at age 55. No previous breast cancer in either side of family for generations. In 2013, my 80 year old mom was diagnosed with Stage 1 ER+ PR+ Her2Neg.
Geneticists started wondering...then when my sister was diagnosed in March, 2015 Stage 3 ER+ PR+ Her2Neg, obviously we were all on alert.
My sister went through testing first as she has children. She tested positive for the Chek2 1100 delc mutation. My mom had her blood test last week. I will have mine in 2 weeks.
The genetics department at the University of Michigan in Ann Arbor is amazing.
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My sister was diagnosed with TNBC at 32, maternal grandmother had breast cancer in her late 70's. My sisters age led to genetic testing. Nobody thought she would test positive for Brca1 mutation and she did. I got tested, and turns out that I have the same mutation. I am 35.
Insurance denied it due to it not being pre-certified but said that patient is not responsible. I guess will see how it turns out. Did get a better life insurance and Aflac cancer policy prior to testing.
Planning on preventative surgeries. I know it's not for everyone but I like my chances better this way. I liked someone saying" Would you get on an airplane if it had a 87% chance of crashing?" I don't want to survive cancer, I want to avoid it if I can. I don't want to try to catch it early abd possibly to have to go thru chemo, and then worry for the rest of my life about reacurence or mets. And if I do get it after the surgeries, at least I will know that I did everyting possible to try to prevent it. It's a tough journey for everyone, many tough desicions to make. There is no wrong or right, it's whatever you are comfortable with. It's sucks to have this mutation but I am grateful for knowing!
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Soanika,
Thank you for sharing your story! It's so nice to have you here, sharing your perspective!
Welcome!
--The Mods
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Due to my strong family history of breast cancer with members on both sides of my family, I opted for genetic testing when I received my breast cancer diagnosis. Two members of my family had previously tested BRCA negative, but I was still concerned, particularly about whether I might be at risk for ovarian cancer. In addition to the blood sample, the nurse filled out a family history report for the test company. My tests came back negative for all genes tested. The test report did note my strong family history, though, and suggested discussion about risk management with my doctor.
Due to my family history, I opted to have a BMX despite being eligible for a lumpectomy. However, I found the test useful because it showed that my risk of ovarian cancer is not elevated beyond the general population.
Insurance did cover the test, minus my co-insurance/deductible cost.
I let all the members of my immediate and extended family know about my test results, as they are very interested - it gives us another piece of the picture for our family.
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I am Ashkenazi Jewish on both sides. There is absolutely no history of breast, gynecologic, pancreatic or colon cancer on either side of my family, as far back as a century. When talk of the BRCA mutations hit the news, I asked both my husband (a cardiologist) and PCP (male, and neither of them Jewish) whether I should be tested. Both said no, reasoning that my ethnicity and gender alone were insufficient risk and would probably have led to a denial of insurance coverage for the test. My PCP, however, was aghast that I had let my mammograms slip and insisted in 2008 I resume getting them annually. In 2011, when I was 60, I had a colonoscopy that came up negative for polyps and diverticuli, and am not due for another one until 2021.
All that changed when this past Aug, my annual mammogram revealed an anomaly, which when biopsied led to a diagnosis of IDC at age 64. After my lumpectomy, both my surgeon and MO recommended genetic testing based on my diagnosis (even though postmenopausal) and ethnicity. I underwent a genetic counseling session, and the counselors concurred; and my MO issued a written authorization for the testing. The results came back negative for the BRCA 1 & 2 mutations and any VUSes. Therefore, my treatment plan remains unchanged. And because there was prior authorization for the test as well as grounds (ethnicity and having breast cancer), I did not even have a co-pay.
However, had I tested positive, my adult son would have had to be tested, as his paternal (non-Jewish) grandmother was dx at 62 with breast cancer (type unspecified), and survived another 34 years after a modified radical mx and radiation. My sister would also have had to be tested. I would not have elected prophylactic mx of either breast, just more frequent screening; but would definitely have had prophylactic bilateral salpingo-oophorectomy. And I would have had to have colonoscopies every 3-5 yrs., as well as an initial ERCP to check my pancreas. (I had a cholecystectomy at age 43 due to multiple gallstones).
Do I resent having had to go through all this worry for the 2 weeks it took to get my results? Not at all. Knowledge is power, either way it turns out.
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A followup to my story...my 43 year old sister just got her results back and she is BRCA1 positive too. She is looking to get a prophylactic BMX and oophorectomy by the end of the year since she has already met her deductible. Knowledge is power they say and she doesn't want any part of the "fun" I am having with breast cancer! Meeting with genetic counselor soon with my parents to get them tested as well. We want to know what side of the family this came from so we can reach out the right aunts, uncles, and cousins!
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ChiSandy
My story is so different and so similar. Ashkenazi Jewish. Lost all my dear ones to breast or ovarian cancer. I was one of the first people tested for BRCA 1 I study 20 years ago because I knew that all of these women's cancer deaths could not be random. I am the same age as you. What took two weeks in your case took two years of waiting for results in my day. The waiting, anxiety and fear was unimaginable . I was negative for the mutation but now I'm high risk anyway with ADH and noting genetic to explain it. Just retested with a panel of 19 mutations.... All negative but shit... Here it is anyway. Seeing MO tomorrow about follow up pla
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When I was first diagnosed my oncologist drew blood and sent it to Myriad for genetic testing because my father and his brother had prostate cancer, and their sister died of ovarian cancer at age 49. My insurance refused to pay for the test.
Fast forward 2 years, and color genomics has a saliva test for $199. I took the test and found out that I have the Chek2 mutation.
If I had known this from the get-go, I might have had a mastectomy, possibly bilateral, instead of a lumpectomy. Maybe. My breast surgeon was the one who told me that a lumpectomy was a good as a mastectomy, which is why I chose that - what would he have said had he known of the chek2 thing?
Now I'm in the process of scheduling a colonoscopy,and also telling my children and brother to get tested. For me this knowledge means that I will have to be very vigilant about screening.
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flaviarose - how long did it take for your Color Genomics results to come back?
I have a somewhat unusual set of circustances due to being adopted with zero access to family history information. I was tested with Myriad testing after biopsy confirmed breast cancer, and prior to surgery. I did not have any genetic counseling because I had no information to give - the testing was done solely to determine surgical plan. My BS had recommended lumpectomy/SNB/mammosite rads, but reserved the decision about which type of surgery to recommend until after my results came back. I was negative for mutation, but elected a BMX anyway because I image poorly. I ended up having extensive ADH/ALH in the prophylactic breast and DCIS in both ducts and lobules and a palpable 2.6cm Her2+ mass - none of which was seen on mammogram, 2 positive lymph nodes not seen on MRI, so the BMX was a good decision. I had fibrocystic breasts for more than 20 years with cysts present all the time - at least three in each breast at the time of BMX, uterine fibroids that necessitated a hyst, many ovarian cysts, a 3cm pre-malignant ovarian tumor discovered by pathology after the total hyst/ooph, a 3cm tumor normally found in the torso turned up in my right calf, and more than 30 skin cancers starting at the age of 35 - in addition to the breast cancer. I suspect I have some issue, but I don't know what it is without further testing.
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I recently did Color Genomics testing . Cost was $250 and turn around time for me was two months
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SpecialK, I did Color Genomics during October when it was $199. They received my sample on October 19th and I received my results only 2 weeks later on November 3rd, 2 weeks later! No mutations found which was a big relief.
Moderators, i was diagnosed with IDC breast cancer shortly after I turned 46. I don't have a big breast cancer history. My grandmother had colon cancer and her aunt and her 2 daughters all died of breast cancer. On the other side of the family, my grandfather had prostate cancer. My insurance wouldn't pay for genetic testing because I was 46 when I was diagnosed and their cuttoff without a strong family history is 45. I first felt my lump when I was 45 but they still said no. It was weighing on my mind whether I had any mutations so the $200 was money well spent. It would be good for my mother, brother, and children to know whether they were at a greater risk. Also, if I had a mutation, I would remove my ovaries. For now, I will keep them.
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I have lived under the cloud of BC my whole life. I was four days past my 5th birthday when my mom passed at 29. Screening started in my early thirties. When ALH/ADH was found at 51 I was sent to a genetic counselor. Tested neg for Brca but given a 50% risk. When an IDC was found after a PBM I tested for Bart - neg. My onc suggested a multigene panel. Tried Myriad MyRisk and Broca - denied by insurance. Color Genomics came just in time. I was neg for those nineteen genes. Still hyper-vigilant re:information for 25 year old DD's sake.
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