Hello, I think my husband would like to do genetic testing and I am curious at what stage this is done? He is in the process of deciding on treatment and hopes to have a decision made within the next 2 weeks. We have talked to the surgeon oncologist already. We are waiting on a PSMA scan on Apr 24 and an appointment with the radiation oncologist on Apr 29.
Is genetic testing done via bloodwork? Hair? Is it done on the biopsy sample? I am not sure how this works and who would order it for him.
Thank you!
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Hi! I had my germline done via blood samples, it took 4 weeks to have the results because they searched for a number of mutations, not only those related to PCa, so I started the treatment meanwhile.
No, not yet. But I have an ATM mutation, so good chances to become castration resistant sooner than I should, and at that point the treatment will change and I will use PARP and/or ATR inhibitors.
For myself i have MSH6-Loss which is a mismatch repair gene. See info below.
In this review we focus on microsatellite instability (MSI)—a phenomenon that belongs to genomic instability characteristic for cancer cells, and discuss it's role in cancer biology. Mismatch repair system (MMR) is responsible for maintaining genome stability. When MMR does not function normally, alterations of microsatellites occur, and the overall mutational rate of a given cell increases. Therefore, MMR has a vital role in cancer etiology and influences its biological behavior. Establishing MSI presence in cancer has significant clinical implications. It can be employed as a sensitive diagnostic tool for evaluating cancer risk, developing prognosis, and explaining how and why some cancers become resistant to chemotherapeutics. In addition, novel research shows that MSI is needed as a predictive biomarker for the application of immunotherapy.
Hi , we are also from Canada and this was done as soon as they knew my husband had cancer , shortly after biopsy. It took 11 weeks to find out results though . Treatment was started right away for my husbands cancer , there was no waiting and the results did not change the treatment. He was told he has BRCA2. As long as the treatment is working this result does not change the treatment
Sorry as for the rest of your question, my husband had the testing done from blood sent in, ( germline ) some have the testing done from the biopsy they did of prostate tumour ( somatic ) . If you get germline testing like we did and my husbands found BRCA2 this affects the whole family line and they all need tested too.
There are 2 kinds of genomic testing: germline and somatic. Germline is the genome he was born with and passes to his progeny. Somatic is the mutated genome in the cancer cells.
Germline testing can be done via saliva, blood, or cheek swab. You can read about Germline testing here, and the free registry:
Somatic testing can be done via biopsy of metastases or by a blood test. Metastases have to be large enough to collect adequate tissue. Blood tests only pick up genomics if metastases shed enough of their DNA into the blood, which is not always the case.
The genomic info that points to a tailored treatment (with a PARP inhibitor) is BRCA+. It occurs in about 6% of men with metastatic PC. There is another condition called MSI-hi/DMMR, which is very rare in PCa. Keytruda is very effective in such men. Other genomics may qualify him for clinical trials.
While genomics may get a lot of media and Internet attention. Histology and IHC may be more important.
How does somatic testing of prostate biopsy material (Decipher, OncoTypeDX, Prolaris, etc) fit in the picture? I know there is at least one study looking at using Decipher to guide primary treatment decisions.
Perhaps I misunderstood the OP or the bio, or perhaps OP has posted to the wrong forum. My read is that her husband is newly diagnosed w/ localized PC, and is asking about timing for genetic (genomic) testing and whether or how that may affect his treatment decision.
You are right. Decipher (Prolaris and Oncotype Dx) based on biopsy samples provides the genomic risk, and may be useful for those sitting on the fence about active surveillance. There are a couple of clinical trials ongoing that will determine whether Decipher can predict whether intensified/de-intensified hormone therapy is appropriate for men with unfavorable risk PCa.
Early on, right after being diagnosed (biopsy) my partner's RO suggested Decipher testing as a way to determine treatment, ie, what type of cancer was it, and what would be the most effective treatment?
My partner's Decipher score came back High Risk, with a 89% risk. Unfortunately, he never learned what type of mutation or cells or DNA or whatever it is in the biopsy is checked. All that we saw was a single piece of paper with a graph illustration. That led him to choose the more in-depth treatment option.
To this day I'm still confused about Decipher testing and wonder if there's more to it that we are missing. How was the score determined? What type of prostate cancer is it, to lead to that score? What was examined and found in the tissue biopsy? What are the results based on? None of that was explained.
Perhaps someone can elaborate? It might help the OP and others.
My layperson understanding of Decipher is that the DNA of the cancer cells in your biopsy sample is examined for gene mutations. The list of mutations in your personal cancer is compared to a large database of mutations and the rate of recurrence after primary treatment associated with that mutation. After a whole bunch of black art mathematics, the result is a statistical probability that your own cancer will recur after (SOC) primary treatment. That is the only finding from Decipher. Is this number useful? As TA said, there is a current trial for unfavorable men seeking to answer the question, Can extended ADT for men with high Decipher scores increase recurrence free survival, while reduced ADT for men with low Decipher improve QOL without reducing RFS.
Regarding when to perform somatic genomic testing for the purpose of guiding treatment of prostate cancer: I had RARP in Dec. 2018 to treat PC diagnosed via PSA of 14.2, MRI, and biopsy. The plan that I am following is to have genomic testing of the RP pathology samples if PSA increases above the limit of detection (0.014 ng/ml ), with the objective of helping to judge whether ADT would be beneficial in addition to salvage RT. The idea is, if there appears to be no potential benefit from ADT, consider avoiding the side-effects of ADT. Thankfully, so far (most recent PSA test was 5 years 2 months post-RP), I have not faced that decision, so I don't know, upon being advised that there would be low but significant probability that ADT might be beneficial, whether I would forego ADT, or whether I would undergo ADT anyway, in the hope of maximizing the probability of a benefit in longevity, albeit at the expense of poorer quality of life.
The urologist who performed the RARP for me recommended that any genomic testing be performed "just in time", i.e., not until the results could affect decisions regarding treatment, so as to potentially benefit from increases in knowledge from additional accumulation of data and analysis of outcomes vs. traits in the genomic databases. He favors early SRT, (certainly by PSA of 0.2 but trending toward earlier); however, I don't know at what PSA level he would agree to pulling the trigger on genomic testing and selection of RT technique and facility.
It has been 5 years since I adopted the above strategy, but I follow the developments as they appear on this & other websites, so I think that my strategy would be essentially the same today. Of course, I'm open to any new info or better insights.
Best wishes for the best possible outcome for your situation!
With the plan to do 'just in time' genomic testing, would that be from your preserved prostate or would you get a new biopsy (of your recurrent mets). It seems to me that in addition to improved databases, you would also benefit from knowing the most recent list of mutations as your cancer continues to evolve.
The plan is that genomic testing would be done on the frozen samples from RP. At PSA ~0.1-0.2, my understanding is that there would not yet be any mets that would be detectable via current technology, thus not possible to biopsy. You raise a good point, that the PC presumably would have evolved by 5+ years post-prostatectomy; I would have to look into the likely value after so much time has elapsed. Also, I should ask for how long the samples are retained, probably not much longer than 5 years. But, having this strategy has been good for my peace of mind.
I also keep an eye out for improvements that might allow earlier somatic genomic analysis, such as in the blood (seems promising), or focusing on detection in nearby lymph nodes.
Of course I hope that recurrence will hold off at least long enough for me to die without physical symptoms! But at ~72, I'm hoping that will be some years in the future, so in the meantime, I'm continuing to keep informed on the subject, for which this web site is a great resource.
My husband’s medical oncologist ordered two different types of genetic testing at his first visit. One test was done on his biopsy tissue. The other was a blood test and he had Zoom counseling. We were both at the virtual meeting. By then he already had all tests such as biopsies, MRI and PSMA PET scan. He is Stage 4, Gleason 9 with Mets to lymph nodes, seminal vesicles, two ribs and scapula. Besides determining what treatment therapies will work for his particular DNA, these tests helped to see if other family members have cancer genes. We don’t have any sons.
In BC you can get 2 types of genetic testing and there are 2 programs that fund the testing. Your MO, if you get one (see below) will know about these programs and schedule you as it fits in the SOC model.
The 1st program is 'BC Cancer Hereditary Cancer Program'.
This is germline testing and is performed on a blood sample taken at a lab. As pointed out above this testing is looking for inherited mutations from your husbands parents. As also pointed out above this could impact your husbands brothers and children. If you have cancer you can schedule your own appointment with this program, if you get an MO they should do this for you automatically. All the details are in the link that follows:
I have been tested once under this program, and that is all that is required. Your germline will not change over time.
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the 2nd program is a 'BC Cancer’s Personalized Onco-Genomics (POG) program'
This is somatic testing and can be performed on both tissue samples and blood samples. As pointed out above this is looking for acquired mutations. Only your MO can schedule you for this program and will do it automatically once your systemic treatment starts. Commercial diagnostic testing discussed above (Decipher, etc) is not covered by the BC Healthcare System. This program is a local replacement for these commercial tests and the tests are performed in the labs at BC Cancer and UBC. BC Cancer is a leading international research institution in the area of genomics and you will not need Commercial tests as long as you are being treated in BC. These tests are used for 2 purposes:
1. To determine if there are mutations that inform your current treatment plan
2. To determine if there are mutations that inform you are eligible for clinical trials.
I have been tested twice under this program. First when I was initially diagnosed and secondly when my diagnosis changed.
As I pointed out above you don't need them in BC for SOC. You may want them for 2 reasons and in that case you must pay for them yourself:
1. Your own personal interest or peace of mind, this will probably be a waste of money.
2. You plan on getting treated in the US and they are required, in that case you will need them.
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It is good that you are proactively seeking out this information but temper your expectations. BC Cancer has a SOC model that they deliver these service thru and they are not going to change their timing because patients are stressed out.
Your best approach is to talk to your current treatment leader (which is probably the urologist) about how you can follow up on these programs. Your urologist is most likely a member of the surgery dept at your local hospital and not part of BC Cancer and may have to refer you.
Based on your bio and all your posts and responses it looks like your husband will initially be treated with curative intent with local surgery, if this is the case you may not even get an MO at BC Cancer. Curative intent treatments did not need to go thru BC Cancer which focuses more on advanced cancers, systemic therapy, emergency surgical procedures and clinical trials.
This is a good thing and you and your husband are in a good place. These genetic tests are not immediately important for your current situation.
Thanks very much for this info! It’s always helpful to have information specific to our situation. We feel a bit in limbo at the moment, as my husband hasn’t decided on treatment yet and we are waiting to meet with the radiation oncologist to discuss brachytherapy boost before he makes a decision. She is connected to BC Cancer. The surgeon we spoke to is outside of BC Cancer, but is connected to a clinical trial my husband has been invited to (GUN Trial) that would automatically involve genetic testing. I wasn’t sure whether we should be looking to get this testing right away if he chooses not to do the trial, but I won’t panic at the moment and will discuss this with the radiation oncologist when we meet her.
I am slowly learning how things work, but it’s all very confusing to navigate on our own. I initially thought the surgeon was connected to BC Cancer, but have since learned he isn’t. My husband’s urologist seems knowledgeable, but he’s not very forthcoming with information. His office also dropped the ball a couple of times, so our confidence level isn’t super high right now. I don’t know if it’s worth it at this point to push for a referral to a new urologist, or whether it won’t really matter soon anyhow, because my husband will be under the care of the surgeon or radiation oncologist? Are there any urologists you could recommend in Vancouver, if we do need to pursue a referral?
Thanks again for all the BC specific information. It’s very helpful!
The most important factor in choosing your Urologist is surgical skill and track record and not if they are connected to BC Cancer, but if they have both that is best possible outcome.
You are in a good place and your husband could live his full natural lifespan if the curative intent treatment is successful. This is the most important thing to focus on right now because if its successful all the worst case scenarios that are floating thru your head will melt away and no longer be relevant.
Thank you! His urologist wouldn’t be the one doing surgery, if he chooses that option. He referred him on to a surgeon who does RALP, so that’s who we met with most recently.
Since studies show a high level of recurrence for Gleason 9, we are trying to look at the three best available treatment options to hopefully lessen that risk. The biggest stress right now is trying to get to a place where my husband has the knowledge to make an informed decision about RALP, brachytherapy boost and the GUN trial to have the best chance for a “cure”.
He also has a PSMA scan coming up next week, which I am stressed about because that could change things overnight. I am hoping for the best possible outcome so that he can move forward with making his decision and kick this cancer to the curb!
I wish you all the best on your journey. Your willingness to provide info to others while you are dealing with all this yourself is greatly appreciated!
With all the questions I have asked, the information others have so generously shared and research I have done, I don’t feel surgery alone is going to offer the best chance of “cure” in my husband’s case. I think localized treatment as well as more systemic treatment that targets a wider area is more likely to catch stray cells that may have escaped. What I don’t know is how best to tackle that risk, but I think brachytherapy boost and the GUN trial have a better chance of success from what I understand. I am hoping talking with the radiation oncologist might give us a bit more clarity. So much to consider!
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