Genetic Testing Cancer Risk

[Anonymous]

Doctor recommended I get genetic counseling after going through my family history which includes many cancers. Would love to hear people’s experience with this including how it felt when getting positive results. I am inclined to move forward but can imagine once I know certain information there is no going back. While helpful and may inform additional screenings, it must be anxiety provoking too
Thanks in advance!

[Anonymous]

I found out I have a genetic predisposition to breast cancer through some genetic testing I had done due to a miscarriage.

Honestly op, it’s more empowering than anything else. Look at it like equipping yourself with knowledge that may just buy you precious time (and lots of it!).

[Anonymous]

My info might be a little outdated because I went through this a few years ago. My family had already been identified as carriers of a BRCA mutation. I had to make sure any life insurance I would want would be in place before testing since the GINA act does not apply.

In my case, I waited to be tested until I was fairly confident I was done having kids since breastfeeding was important to me. This also meant I went through a couple years as a presumed positive carrier of the gene so had mammograms/ultrasounds every 6 months.

Here’s the kicker; I now have ‘survivor’s guilt’ because I have since had the genetic mapping done and do not carry the mutation. My sister, however, had the opposite result. I was physically ill after calling to tell her my ‘good’ news. (At that point there was something like an 85% percent likelihood of cancer with the mutation... ) It’s a shitty situation for everyone, but make sure you’re prepared for the psychological ramifications.

[Anonymous]

Make sure your doctor's office offers actual counseling and help interpreting the results. Even scientists have a hard time understanding statistics and probabilities when it comes to our own personal health. I remember seeing a post here a few months ago about a poor woman who was given the raw results (you have X mutation with a 20% increased chance of horrible death) and no guidance on how to interpret it or what to do next.

[Anonymous]

Ugh this is a tough one. Both I and the kids have had extensive testing and nothing notable showed up but one kid ended up with G6PD deficiency, the other is being monitored at Children's for a fairly common genetic disease, and I still have my suspicions about my "all clear" results, given my family history. If you know the specific variations you're testing for, it might be worth it. Otherwise, you may not get an answer.

[Anonymous]

My mom is a cancer GC so I’m biased. Please go! And kudos to your doctor for recommending you see a GC. They are trained in the science & in the counseling.

[Anonymous]

My dr also recommended and I’m in the middle of the process. Had the blood draw and initial family history call with the company, waiting for results and the call to go over them. My biggest complaint so far is that I wish my dr was more involved instead of feeling like I’m being marketed to by the testing company.

[Anonymous]

Anonymous wrote:Make sure your doctor's office offers actual counseling and help interpreting the results. Even scientists have a hard time understanding statistics and probabilities when it comes to our own personal health. I remember seeing a post here a few months ago about a poor woman who was given the raw results (you have X mutation with a 20% increased chance of horrible death) and no guidance on how to interpret it or what to do next.

That was me. I just got a big envelope in the mail with a big red plus sign followed by a lot of medical-see I parsed out myself. It sucked. I have Lynch syndrome, which puts me at higher risk for colon, pancreatic, endometrial (I had that), skin and a slew of other cancers. I did ultimately talk to a genetic counselor, but basically am on my own to manage all the testing and finding doctors.

[Anonymous]

If you plan to have kids, I’d certainly get it done (after you get life insurance) so you can screen out embryos with the mutation via PGD/IVF. Those I know who have the BRCA mutation did this.

[Anonymous]

I had it done a couple of years ago and like PP found it empowering. I have a history of melanoma, benign breast lumps and cysts so my breast surgeon recommended it (I am a candidate for preventative mastectomy/reconstruction). The pre-test counseling was fantastic.

One thing is to ask yourself how you deal with uncertainty: While I didn't have any of the "known" markers I do have an anomaly that may or may not be significant - the research just isn't there yet. They said they will be in touch if they ever find out one way or the other. I'm okay with this and literally never think about it (other than replying to this post!) but some people might struggle with the ambiguity.

Good luck!

[Anonymous]

It's a really hard question. Would your behavior change substantially with certain results? E.g. testing frequency? If not, I personally would not get tested. I think it would increase my anxiety either way, which is also bad for my health.

[Anonymous]

As pp’s have noted, do this through a genetic counselor, as there can be a lot of information to digest, and before you do anything, get any life insurance you want in place first.

I was rated as if I had a BRCA mutation because I merely discussed getting tested with my dr and they found that in my doctor’s notes. Irony is subsequent testing showed I was negative for any known mutation, but was then diagnosed with breast cancer before I got the insurance issue settled.

[Anonymous]

I will be doing it soon - posted the other day on it: https://www.dcurbanmom.com/jforum/posts/list/916356.page#18244742

My only input to you at this point is to make sure you have your life insurance in order prior to the appointment/testing and think ahead for issues like health insurance and long-term care.

[Anonymous]

I had it done. Revealed a genetic anomaly that led me to have a preventive double mastectomy.

I'm torn about whether I think I should've had it done, though. Now I'm flagged with a giant preexisting condition, and the monsters in control of the government are about to kill the ACA.

[Anonymous]

Anonymous wrote:If you plan to have kids, I’d certainly get it done (after you get life insurance) so you can screen out embryos with the mutation via PGD/IVF. Those I know who have the BRCA mutation did this.

I’m in the process of doing this exact thing right now. I thought I was the only one!