Genetic Testing Decision Making & Barriers Youve Faced?
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!
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My interest in initial (germline) genetic testing was for potential treatment options, but equally to provide information for my children regarding risk. So...my profile only gives them half the picture (my dh is the other half), and no known hereditary mutations were identified. My insurance fully covered the cost due to established risk factors (including family history)
My first line treatment has been very effective, so my next interest in genetic testing will be for somatic testing (e.g. foundation one) of a tumor after progression. I talked to my MO about it earlier - his viewpoint was not to test until we were in need of a new treatment plan, which seems logical to me.
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Thank you, SeeQ, for sharing your experience! We truly appreciate your participation.
Wishing you well,
The Mods
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I was given genetic testing and counseling without having to ask for it due to the fact that I was 45 at diagnosis and had synchronous bilateral BC. My cancer team was great, including the genetic counselor. I feel like I received top-notch care without having to push for anything myself, I'm grateful for that.
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Thank you for sharing, SummerAngel!
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I didn't really face any barriers other than uncertainty about what additional steps should be taken with CHEK2 mutation, it seems that some women with this mutation opt for bilateral mastectomy. None of my HCPs have recommended that for me. However, some have been more supportive of that option than others so I remain conflicted. I'd be happy to share any other details about my story.
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How interesting i found this topic. I am going to the City of Hope and consented to genetic testing they do. So while i thought i was going in for a 4 infusion treatment, the genetic testing showed I am a carrier of the BRCA2 gene. How delightful. Then i just do not believe it, but i did believe it. I would have just done the four and been on that path. Now my treatment has changed. I will be getting an infusion a week. The Doctor called me first thing this morning, as i go in to see her Friday and she did not want to blindside me. As soon as i hung up, I called each of my sisters and my friend that sent mt to Breast cancer,org. We have known each other for over 30 years, The last couple decades since she got married, we barely stayed in touch. I always loved Jana's honesty , her love of travel and the laughter we share. as we talked today, we did laugh. Who would think that when i visited her in January of this year, I would be calling today to tell her i jumped way to the front of the bus with my new diagnoses.
Double-Bilateral mastectomy, removal of the ovaries that never got the chance to produce babies. Wow. My friend and all your posts are showing me how to walk this journey. Tomorrow i have a blood test at 8am, ann electrocardiograph at 8:15 and a meeting with the MO at 9am. She is giving me all the info. I already see i have infusions every week till Oct. The genetic testing was done by City of Hope and not through my insurance. September 14th i talk with a genetic counselor from the City of Hope and get all the info. From no Doctor to many, wow!! I will have lots more to share later. I do believe i am in the right place. A genetic study, the BC gene. Angelina Jolie had it!! She has plenty of $$$$$. I was supposed to get chemo tomorrow, but my insurance ok'd it a bit too late. I go in on Saturday.
In all, it is one day at a time for me. Do not fear what i do not know. Once i have my first infusion, I will know.
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Thank you jennyjo and K-Gobby! We hope for both of you your treatment plan becomes clearer with more information. Please keep us posted!
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After my first lumpectomy in November 2020, I was diagnosed with IDC, my BS recommended genetic testing based on my family history (mother, maternal aunt, maternal great aunt had BC). A RAD51D mutation was noted which increases my risk of ovarian cancer and breast cancer. It seems much less is known about this mutation than others such as the BRCA gene. I had a consultationwith a genetic counselor who recommended seeing a gynecologic oncologist about a prophylactic BSO. I am undecided at this point whether to proceed with a BSO.
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Thanks Harley!! Such a difficult decision.0
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Today was my first infusion. In my own room for this infusion today. First the steroid, then Benadryl that made me super sleepy way fast. Normally they give a nausea, but i took a pill before i left. I know there was something else, but i forgot. Chemo drug Taxol for over an hour, then Carboplatin for under an hour. Most time is administered the first few items, then waiting 20 minutes for them to enter my whole system, then the Infusion. After giving platelets for 25 years, the port and both hands free is great. Jeremy was my nurse, and he super good. Been doing it 6 years. No numbing cream on my port and i felt nothing. 1 down, 11 to go on Fridays at 7:30am.
January 14, I meet in a video consult with the Geneticist Dr. McDonald from the City of Hope! He will have 59 noted genes and see which have any concern for me. I know if more of us participate in this study we will have more and more ways found to treat all the cancer.s I have never heard of RAD51D. Cray. I never thought i would get breast cancer. Then my Mom died in August of 2016 and her 2014 doctors visit showed breast cancer as an illness. Mom did not go back.
One more item. I have an estranged brother that i call dismissive. He cares for not a thing i say or do nor my sisters. He talks to our brother. He also works as a skilled machinist at the City of Hope. My MO said contact all your siblings, even the estranged one. So, we got my niece, who was my buddy for 27 years to ask my brother if I could email him. She lives with him and no longer talks to me. She had lived with my Mom for 10 years. He sent his email to her. I sent an email saying I was being treated at the COH and I was asked to alert family as to my gene study and what was found. Kept it simple. He has not replied. I told him, so my work is done. He may have got the genetics test already, as he works there, as I mentioned.
I meet with a Gyno Doctor and my breast cancer surgeon next week. Making the plan to remove. Wow, it is moving face. Dr. Niki Patel has got the ball rolling with the new diagnosis. No messing around.
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Here in the UK I started in the NHS system and I was not a candidate for genetic referral because I had no family history. When I asked about genetic possibility given age at dx (42) and stage it presented at, I got shrugs and "we don't know a lot about genetics and implications for breast cancer but with no family history you likely just had bad luck." A year later I switched to a private oncologist with my insurance the first thing she spoke about was getting some genetic testing done and connecting me with a genetic oncologist. I did that last winter and it came back a very surprise BRCA1, which also helped my MO make the case to the insurance company for the BSO (my ask, as I didn't want monthly Zoladex injections). On the private side the process was very smooth - MO wrote a letter to insurance, they called me to confirm what they would and wouldn't pay, I agreed, and off we went.
My brother, dx'd with head and neck 6 months after me (at 37) was treated at Stanford where they had him do genetic testing as well, even though his was caused by a virus.
Reading the above, it does seem as though if you have insurance its rather an accepted practice, especially with some situations where its more likely (age,presentation), but these are expensive tests which may limit the offering by public systems to the very simplistic "family history" metric and even then the criteria can be very stringent - I believe the NHS requires at least two close family members AND another criteria (age or type - I saw the flowchart posted in the oncology office once). My parents are getting tested under Medicare and mom was required to go first as the woman, even though the UK counselor thought it most likely was passed down through my father's line (mom tested negative, dad is testing shortly).
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I have DCIS. I asked for genetic testing myself due to family history of cancer, although no breast cancer. My insurance only approved BRCA test but genetic lab added 50some more genes for free. I tested positive for FANCM mutation.
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Thanks SondraF and Luca and all
Their are so many genes. I need to check FANCM. I did find out from my older sisters genetic research that we have paternal a grandmother/great too who died of breast cancer. And my dear sweet, take to the grave the illness she had at the end, Had breast cancer noted from her CANCER doctor in 2014. She passed in 2016. I qualify with three, so Anthem will hopefully not deny me. As I have said, in a cancer study, they need people to study, so my original was free. I just had to say yes. If you are asked, say yes. One reason I knew yes was my answer is next. The Red Cross has has my blood and platelets for 25 plus years. They have tested it for all sorts of illness. I only was shaky one and got a letter. Oh no. The donor Customer service gal donna called me. She said I would be notified by mail. She was so sorry. I thought"crap". IS this what makes me stop? The next day, I got a call from the Red Cross people to say it was an error and i was ok. Wait for the letter that says the coast is clear, and get back to donate. That was 2016. I stopped donating in June of 2021 once I knew what i had. The RED Cross does not have gene tests in their study of our blood. If I give them my blood, why not genetic testing?
Luca- Advocate. Get your doctor to advocate. Genetic testing is key. We are finding that out. You got to find that out. Perfect! They can target what is working to devaste the growth of those cancer cells. And asI hear from you, give us bone chilling pain in the process. Once COH told the insurance what i had maybe they checked and found my gene is affiliated with breast, ovarian, prostate and melanoma!! My uncle and grandpa on Moms side died from melanomas!!!
I feel blessed for my timing, as City of Hope in Duarte is a research hospital. They asked if I wanted to enter their genetics test. I did not pay. Anthem/Blue cross is my insurance company and Friday the 13th COH got approval for my 12 infusions. It looks pretty certain I will have a double mastectomy and the ovaries or the whole shabang removed. I have found that i am not going to worry about tomorrow. My appt with the Gyno surgeon is the 19th of August. Like so many doctors i have met in the cancer center, he is also matter of fact. They provide the course of action proven most effective for me. Do I say i want to keep my never used, no babies, menopause at 41 lady parts? Really? Tell me the date and time and i will show. After it is done, I look up what was done. I do not need to freak myself out thinking about it. My older sister started out with ulcers decades ago. She has stomach problems. She did not do a fecal test, as it was too invasive a short months ago. With breast cancer and its journey, thank God for modesty in the US, or would all just walk top less from appointment to appointment. Life. I am in a world of medicine whose door i never opened. When i check in for COVID screening I am asked by all if i am a patient or visitor. I have my hair still. I wonder once my head is shaved and i have scarves on. Does that stop? My plan is to buy wigs. Once my head is measured after my hair is cut, I am buying at least 3. I have worn this in plays i have done over the years for my non profit fun. So many cancer center people have just gone with the flow. Who will i be?
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The doctors recommended testing (and insurance paid)for me because of family history - mother, plus paternal grandmother and aunt. However, no known mutations were found in my case.
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TXLoreli. You were blessed. Great news for you. My 2 sisters are being tested. I pray the same for them. One has rheumatoid arthritis, so that is enough i say! My mass was the same size as yours. Grade 2. No nodes. The new found gene bumps me up. I pray yours continues on a stable path.
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Hello. I am frustrated that it took so long to get the genetic test, way after my mastectomy. First, surgeon did not think I needed it, then I had to wait for oncologist to approve it, wait for 3 month for an appointment with genetic counsellor.... If I knew that I have a gene mutation predisposing me to BC, I would have chosen double, not single mastectomy, as I worry a lot that it will happen to my right side as well.
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Lucka- I understand. I got lucky being 20 miles from City of Hope, the Comprehensive Cancer Research Hospital. I believe in more time, it will be the standard. These research hospitals are leading the way. My MO nearly insisted a double mastectomy is needed for my gene BRCA2- Your insurance must approve and i am sorry to have to go twice. It may be in your best interests in the future.
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Thank you all thus far for being so open and sharing! It's much appreciated!
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Hello- I was diagnosed with bilateral cancer in 2012, and my breast surgeon always believed my cancer was genetic becuase of the bilateral and my sister also having been diagnosed the same year. It began with a BRACA genetics test the year I was diagnosed, but my BS had me do every iteration of it that followed through the following years. se additional tests related to that. At no time was I ever offered to have a genetics counselor, but fortunately, none of the iterations of testing turned out to be positive.
Although no one on either side of our family was ever diagnosed with BC, both my sister and myself were both diagnosed with BC (different types though) within months of each other. She waited to see if any of my tests came out positive per the direction of her MO. But then more of a family history began to evolve; a first cousin had a daughter who was diagnosed in her early 30s with BC during a pregnancy (and prior to our family having been diagnosed), then her other daughter ended up being diagnosed a few years ago with bc in her late 30s. I started seeing what was an increasing story of breast cancer in our family story and talked this during a visit with my MO with my last genetics results.
I discussed with my MO an increasting family history about BC in the family that seemed to be stemming from my father's side of the family. Because I am not in touch with these cousins on a regular basis and none of them know about my BC or my sisters dx, I asked him if we needed to share our BC story with them? That maybe they too should be aware of the family history and possible need to get genetics tests? My MO advised that he did not think there was a connection with the cousin's daughters, but the fact they were both in their 30s during diagnosis, they should both be tested as the younger you are, the more likely you may have a genetic connection. In the end, neither my sister or I shared anything with them because of the conversation I had with my MO, but did hear the younger sister got tested and found out she had a genetic mutation for BC. Unfortunately, her older sister passed a few years ago. The genetics testing and evolving family BC history opened a pandoras box for us we had to navigate.
The biggest challenge on my end with this was the insurance part. There were pre-auths done by the BS' office, but several times they were rejected and I was expected to appeal them. One time, their office did not end up getting the right pre-auths and I ended up having a $7000 bill send to me to pay (which I did not).
If you are getting offered genetics testing, be sure you a) understand why they feel it is necessary, what factors make it necessary b) what the process is in advance to get your tests approved by insurance c) and ask for a genetics counselor in case your results end up with information as some genes are tied to other types of cancer and you need to know what to be prepared to do extra if you tests are positive and what if anything you need to be prepared to discuss with family.
I am now in a new FT job and in a different delivery system and waiting for a consult with their cancer center to see what I need to be doing at this point to be followed with being a number of years out from my diagnosis. I plan to discuss the genetics testing history with them as part of that consult.
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In California, at the City of Hope, they are a research hospital., so it has cost me nothing, but their right in the lab to study my genes. The cost to me was ok. I stated in another blog i have given my blood products regularly to the Red Cross for 30 years. My blood has been studied for disease, but not genetics, yet. As to extended family, this does seem to be a tough topic. My mothers family we know, but are not super close to. I think we can tell them though, as they may want the info. My Dads sides siblings have 3 boys and 3 girls' besides my 4 siblings. My four siblings know. It is hard to know the interest of others if they even want to know about tests or results or how to consent and do it themselves if we do not ask.
In my Sept 14th consult, I am going to talk with the geneticist. I am just turning 61, and no health issues in life, besides shingles and basil cell skin cancer. I know skin cancer is genetic. Mom had mole melanoma at 30 and breast cancer in her medical records in 2014 I found after she passed in 2016. Dad died of a squamous metastasized.
J-Girl- I am sad about the insurance. It is so here and there across the US. Twenty years ago i managed a McDonalds and had a GREAT plan. I never used it. No babies, no nothing. For 22 years. Today I am with Anthem/Blue Cross through my Union at work. I have been so lucky to have it. So far, no denials. so far. The City of Hope notifies me if they run into snags. I am amazed at the cost of the service/the discount and the amount paid. A port installed is pricey. All the costs of that small operating room. 15 minutes and so much $$$. My chemo started a day late, due to it being changed from 4-12 infusions. Insurance needed a day to approve the change. The chemo nurse said the drugs are pricey for each week. For Genetics testing, I would be scared for insurance companies to get our info and make decisions based on those tests.
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I feel very fortunate that my PCP referred me first to my surgeon at UT Health in San Antonio. She was my first point of contact. I had zero previous knowledge of breast cancer diagnosis, prognosis, or treatment options. I didn’t have much time to get any real info from my Monday dx to Wed appt with her. She had my whole care team picked out, had blood drawn that day for genetic testing, and already ordered oncotype testing. Unfortunately, I found out the genetics counselor doesn’t run the test until they meet you because they want to know exactly how much information about mutations you want and because sometimes insurance doesn’t cover it. My insurance didn’t cover it at my age (47), not having family history, etc. It’s all out of pocket. I am worried, want this info for my daughter, ask how much it is, thinking like $2k. When I was told it was $250 I almost cried. They asked if I wanted the whole panel of like 84 mutations, the regular breast panel plus everything else. How much is that? The same cost! Some people don’t want to know if there are some random conditions they might or might not get. If I’m paying I want it all.
It was easy for me to justify. I could cut any expense to the bone for any info that would help my daughter. But this is not that expensive a test in the grand scheme of blood work, even medications. But I can imagine the reality of it being out of reach to some of my friends, uninsured, poor enough not to afford it but toorich to qualify for assistance. I understand there are no guarantees with cancer but it disgusts me something as cheap as a one night stay in a Hampton may not be available to those who want it.
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Wow! I can’t remember the exact amount but 10 years ago when I had my first genetic testing, I think the cost was much higher and there was only BRCA gene testing back then. I know $250. may still be prohibitive for some but I’m thrilled that for those who are not covered by insurance that the price has become affordable for many more.
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I know one of the things I had to do when accepting my genetic testing was to sign a document stating that I had all my financial affairs in order regarding life insurance or care policies. The genetic counselor told me that certain findings that put you at high risk for specific diseases could disqualify or impact the cost of any future insurance of that type (not medical insurance however). It wasn't a stumbling block for me as I already had those policies in place but could be for some younger folks. I do wonder if people that participate in the test without that initial genetics consult are aware of the future implications.
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RAH24464- I wonder about those implications too. I was told at COH that it is for research and on its own, no outside people can identify the results are mine. But, my treatment is based on them. Doe the insurance company get to know? What will that do for me? At this time, I have insurance and likely will till 65 at this job. 67 is my retirement age, but we will see.
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K-Gobby the way things were presented to me (3 1/2 years ago) was that there was concern for me applying for a new life insurance policy or a new long term care policy, not standard healthcare. It was basically a legal consult to clear the genetics company if information indicating serious risk for disease became accessible to those who sell such policies. It is quite possible that there are now some laws that are protective, I really don't know. I had recently converted a life insurance policy to a long term care so I knew I was ok on that front at least.
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exbrnxgrl, the visit with the genetics counselor was another cost that was covered by insurance. It was a lot of money. The test itself wasn’t covered.
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Rah2464- Thank you for that info. I read another post that spoke about getting policies before you test, just in case. I hope it ends up under pre existing conditions. I am grateful i have a job.
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waves,
So you were able to get the genetics counseling visit covered but not the actual test itself?
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Yes, genetics counselor covered, testing not
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I was offered genetic testing thru a breast cancer navigator. I had it done (saliva). Tested neg for BRACA and for whatever genes they tested me for. Sorry, if I wasn't so lazy I would go find the paper work. Anyway the company that did the testing sent me a form to fill out letting them fight for coverage . Insurance did cover the payment after several months. I wanted to know for my 2 girls. Navigator did say that they don't test for all possible genes that might cause BC. If I had tested positive Dr. would recommend bilat mastectomy. So it did help with my surgical decision.
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