to keep putting off cancer genetic testing

[CafeConLeche5]

I qualify for cancer genetic testing. This information could be helpful because there are extra screenings available for many cancers. But some of these mutations raise one’s risk of multiple cancers, including pancreatic. There’s not much that can be done to mitigate that risk, so I’m not sure I want to know. I’d like to hear the thought process of others who had to make this decision or know someone who has. What did you decide and why? If you have a mutation, do you grapple with anxiety?

Lynch syndrome runs in part of my family and many relatives have been tested (I‘m not genetically related to the original carrier so didn’t need to decide).
There may be no prevention but you can certainly educate yourself on key symptoms and access screening. Liquid biopsies are coming and who knows what the next five years will bring. Hopefully knowing a positive status also encourages GPs to take certain things more seriously.

There are specialists who will be able to advise. Ring macmillan or cruk to ask them who best to speak too. If, for example, a test for a BRCA mutation, then the risk for developing breast cancer can be high and there are treatments to consider. Speaking to specialists might help you come to a decision. Good luck

20 odd years ago I was offered this, my Dr. said it would only give me years of worry, the best thing was to go to him if I had any health worries. I am glad I took his advice. So far I am fit as a fiddle.

I think the BRCA1 mutation is a good example of where a bit of extra knowledge will mean you'll get breast screening earlier than most I think. I have a friend who moved to the UK, couldn't persuade her GP to run the test despite compelling evidence that she was at higher risk, and guess what? She found her first tumour 10 years before she would have had her first scan.

For lots of cancers the genetic markers aren't well refined yet, but where they are AND there is some action that can be taken, it seems like a good idea

A lots changed in 20 years though. My family has the BRCA gene-my mum had breast cancer at a young age and passed on the gene. The knowledge for those who are positive has meant they can have preventative surgery reducing their risks right down to the level of the rest of the population, hugely reducing their worry. Of course it’s not for everyone and like you say there are different mutations with different implications. Before you get tested you have to speak with a genetic counsellor. They can support with your decision to have or not have the testing- have you had this yet?

Good topic, OP. I'm in the same position as you & I keep putting off doing the genetic testing my Dr wants me to do. I honestly don't know what to do but I'm thinking I'll only worry like mad if something came up on it.

I did do 23&me a few years ago & I don't carry the BRCA genes based on those results & although my mum had ovarian cancer at 21, the type she had isn't considered genetic plus my Gran had breast cancer when she died but she didn't die because of it.

Looking forward to seeing others responses to this. 😊

I was offered this when my mum had breast cancer. There's also a long family history of it. I had my genetic counselling and bloods done the same day.

I put it off for months and months as I have bad anxiety. If I tested positive, I would have access to more regular tests so I reluctantly had it done. Amazingly I don't have the gene and it's hard to imagine how I would feel if I had it. I very. Much struggled with the decision for months.

I don't feel any safer, not having the gene. I might not have that particular gene but that isn't related to cancer in general.

I understand your fear and hesitation 💕

I did get counseling, she was very helpful in explaining how this works and what to expect. She couldn’t really tell me what to do though, and acknowledged that it can be anxiety producing in many people and only I can decide what is best for me. I am leaning toward doing it but I was surprised to learn that BRCA2, for example, significantly increases one’s risk of pancreatic cancer in addition to breast / ovarian (though it’s much lower than for those two). I guess I’m just worried that knowing about that risk will cause a lot of distress.

I also put off having the testing. However I was very lucky that I had an incredible professor overseeing my annual scans and he was an innovator in the area I was being tested in. I had main genes testing and additional testing ( I paid for the testing) and was surprised to see I had no genes present given extensive family history.

For me it didn't change anything massively as I still get annual scans, it did lower my risk rating so I am no longer eligible for medications. But it did raise the question, again given the amount of this particular cancer in my family, whether testing just wasn't developed enough to find what was causing the cancer in my family.

I was tested for a lot of variations of particular genes not just a handful, but I'll never know if it is Genetic because the limitations of the testing right now say it isn't, and I only have that to go on.

Cancer is a lot more treatable and curable when diagnosed early. It's a fact. Unfortunately when they become symptomatic they can be quite advanced, requiring more aggressive treatment leading to poorer quality of life and recurrent risk, or are incurable.

If you have the gene - you may not and then what a relief.

If you do, you can still choose the level of monitoring that you have - you don't need to have surgery.

How might you feel if you didn't get tested, developed the cancer and it was detected too late? How would your loved ones feel?

I have not had the genetic testing as it will unfortunately go on my medical records, which may impact insurance. So because I knew we had the BRCA gene in the family, I sent my elderly father for testing instead.

Do you think you would worry anymore knowing you definitely have the gene than you do now knowing that you qualify and therefore are at increased risk of having the gene? For me knowing I might have the gene would be enough to get me worrying about cancer, I don’t think for me the worry would necessarilly increase knowing for certain I had the gene because the worry would be there anyway. Knowing you have the gene doesn’t guarantee pancreatic cancer (or any cancer) so the worry is still a ‘what if’ but knowing may enable you to take action to reduce the risk of some cancers or qualify you for earlier screening etc. For me I think that would make it worth getting as I know I would already be worrying that I might have the gene even if it wasn’t confirmed and would be worried about possible cancers anyway, knowing for sure would at least potentially mean the NHS giving me tools to reduce that risk, but obviously it’s an individual decision and there isn’t a right or wrong. If the hope you don’t have the gene is enough to stop the worry then I can understand why you wouldn’t want to risk losing that.

Hope you don’t mind me jumping on, but I just wanted to add some clarification to previous posts. I work in a setting related to genetic testing and just want to say to please not rely on direct-to-consumer tests like 23andme. They don’t test for all pathogenic variants of the BRCA1 gene, for example. So a ‘negative’ test just means that they haven’t found a change in those particular parts of the gene.

If you have a first-degree relative (eg mother, sister) who’s had breast cancer, you may be eligible for genetic testing via a referral to oncology or clinical genetics. The NHS test covers variants in BRCA1, BRCA2 and three other ‘cancer predisposition’ genes.

Also just a note about insurance. In the UK, you do not have to declare a positive predictive genetic test to an insurer, except for Huntington disease, and that’s only for cover over £500,000. Source.

All of DDs paternal relatives carry BRAC2 gene mutation, her paternal grandmother
and her two sisters and two of their daughters have died from cancer. DDs Dad and his two sisters also carry the gene mutation and both sils have had double mastectomies and hysterectomies. It leaves me very worried for DD truth be told but we try not to dwell on it.
The consultant who did the gene testing advised that DD and her cousins ( all in their early 20,s to late teens) to have it noted on their medical records and to not consider testing until they have completed having children if that is their plan and to have regular health checks with their GP.

just to be a pedant, everyone has the BRAC1 and BRAC2 gene, increased risk of cancer is when these genes have mutations.

We had to decide whether to undergo genetic testing when a grandparent was diagnosed with a very serious condition (not related to cancer). In the end, we did it because we felt it was necessary for our children to know if they had the gene or were carriers, so they could receive early treatment if there were issues. DH at that time was not symptomatic. It was a bit of an anxious time but very reassuring to find out the gene wasn't carried by DH.

I'm less sure about cancers. It would probably depend on the type of cancer and the difference it would make for me if I knew.

Genetic tests results do not have to be declared to health insurer companies in Ireland or the Uk.
is your health insurance elsewhere ?

I had endometrial (uterine) cancer and they tested for a genetic link as routine (because I was relatively young and didn't fit the pattern for that particular cancer). I didn't think twice, because I was mindful of the fact that I have 3 DCs and I owed it to them.

Turned out I have Lynch Syndrome, with a raised risk of gynae and bowel cancer - I now qualify for colonoscopies every two years, which is a great reassurance. My DCs are in their early 20s, and just at the point where they plan to embark on the genetic testing - you hear so many horror stories of young cancer sufferers being fobbed off / not believed / denied screening tests after showing symptoms, so if any of them carry the same gene fault then it can only be a good thing to know this. I have pointed out to them that it is not necessarily a death sentence - neither my parents (80+) nor grandparents had cancer - but awareness is key. I've been advised that if either of my DDs are a carrier then they should consider hysterectomies after they've had families, and they would also qualify for colonoscopies.

I know well that pancreatic cancer can be a bit of a silent killer, with non-specific symptoms that could be explained away by any number of things.....my lovely stepdad died of it in 2020. But what if he knew that he had a genetic disposition - wouldn't that have directed the doctors towards an early diagnosis? Wouldn't he have been alert to the signs?? It might well have been caught earlier and been surviveable.

Knowledge is everything. I can't see that putting your head in the sand serves any useful purpose.

I am returning to report I had my blood drawn today for testing. I am anxious about it, but I feel confident this is the right decision for me. Thanks to all of you who shared your thoughts, it was very helpful to read different perspectives.

Hi op, good luck. Waiting for results is always difficult.
I had genetic testing for the atm gene as my mum was a carrier. I found out I was positive, but had the test as otherwise I would have always wondered, am I? I am aware of the different cancers I have a higher chance of getting & know what to look out for. Realistically I always had the gene, now I’m just that bit more prepared. So far my dc have chosen not to be tested but are only 23/21/15. I’m sure my dd will get tested when she is older. My ds & cousin(f) were tested but my db chose not to.

Good luck. I think you made the right decision - if it's BRCA 2 there is screening available and preventative healthcare. It might also encourage you to look at your lifestyle and reduce any residual risk that way. I can't imagine it would be less worrying to know of the possibility of carrying the variant as opposed to definitively knowing either way.

Well done, OP.

Good luck OP and thanks for the update.

I'm waiting for a family relative to get tested, I'm not eligible for the test unless theirs is shown to be positive.

I have the gene mutation for BRCA1 and knowing about it didn't increase my stress but lowered it.
I knew something was wrong in the family but wasn't sure what.
I'm glad I know as it means I can be checked for things earlier than normal.
I've had all the surgeries I can have to try and ensure I'm around for my family for as long as I can be.

I had cancer in my 30s and didn't qualify for testing on the NHS (I would now as guidelines have changed) so went private, and it turns out I and one of my parents have a chek2 mutation which is associated with a medium risk of certain cancers (including mine). Prior to my diagnosed several family members had received diagnoses so I was already considering testing as I thought it could be a good idea.

I found the process quite emotional and stressful, in some ways even more so than my cancer diagnosis, as I was so worried about the implications for other members of my family (eg siblings). I am however glad I did it as I now get increased screening for the cancers I'm most at risk of, and it is also helpful to influence other medical decisions.

I know that on my parent's side of the family, there's a lot of reluctance to get tested and younger cousins (in their 30s) haven't even been told about the mutation. I can understand an individual not wanting to be tested but I feel strongly that people should at least know of the possibility they're a carrier so they can make that decision themselves. I'll be telling my kids gradually over the years so by the time they're adults they can decide whether or not to get tested.

Good luck waiting OP! If you are a carrier, make the most of any genetic counseling offered.

Good luck OP, I got my results back a few weeks ago and have no gene markers (or at least non they can currently pick up).
As others have echoed, in some cases you just need to be vigilant regarding symptoms (like pancreatic cancer), but forewarned is forearmed and early diagnosis is key.
I also thought of it as doing it for all of the women in my family, the next generation especially.