Genetic Testing?

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lakeswim
Posts: 229
Joined: Sat Mar 31, 2018 9:37 am

Genetic Testing?

Postby lakeswim » Thu Aug 23, 2018 11:13 pm

During one of my early infusions (in June), a genetics counselor came and took me to a room and discussed genetic testing with me. I wasn't feeling great, so not a great time to take in information, but I do believe she told me to carefully consider getting genetic testing given I have minor children. I BELIEVE she said that if they find a genetic marker for cancer, it may affect my children's ability to get life/medical insurance when they are older. (She said they have to wait until they are 18 to be tested.) I do need to call this woman and clarifying things, but I wonder what this groups knows about genetic testing.

Obviously, any genetic information they may find will be useful information for my siblings and my kids in terms of our being informed about our health, but how/does this info benefit ME as I enter into the radiation and surgery phase of my treatment? And/or beyond (perhaps in terms of other cancers I may be a candidate for?)?

And what are they looking for - a genetic mutation? a marker? They could find nothing, right? (And I'll be back to losing hours of sleep wondering how the hell I got this cancer, given I have always led a very healthy lifestyle.) Apparently, given my "young" age, my insurance will pay for this (apparently, expensive) testing, but I want to make sure I know how the info will benefit me and any possible downsides/legally (for my kids?) before I make a decision. (Are there reasons NOT to be tested? Am I crazy to even consider NOT being tested?)

Thank you!
Female - RC dgns @ 49 y
Adenocarcinoma
10-11 cm from anal verge ("large")
Stage 3a - T4N0M0
FOLFOX May -Sept 18
Capecetabine + Radiation - 28 sessions - Oct - Nov 18
Jan 19 - MRI & flex sig show tumor gone, Chest/ab CT no change
Feb 19 - MRI & flex sig show tumor gone
W&W (must travel)
.....W&W surveillance 2019,2020,2021,2022,2023....
Jan 24 - approaching 5 years this Spring with W&W surveillance to end.
*grateful*

Stewsbetty
Posts: 170
Joined: Thu Jul 14, 2016 7:08 am

Re: Genetic Testing?

Postby Stewsbetty » Fri Aug 24, 2018 1:31 am

My tumour was tested for gene mutations originally. Because we discovered I was MSI high I was recommended for testing for genetic mutations through my whole body. Since I have children I was anxious to know this. It was a longer wait here in Canada but it was reassuring to know that I have no genetic mutations and all the genetic alterations in my tumours are due to the cancer.

So usually they first test your tumour for gene mutations (commonly MSI or MSS, Kras, and Braf). Based on these findings then they recommend screening for your genetic makeup.

I haven’t heard of disqualifications for insurance based on genetic mutations.

And as a reassurance, there are not many people who carry known mutations in their genetic profile that cause colon cancer.

Beth
42yo At diagnosis. Female in BC, Canada
Dx: CC ascending
Right Hemi colectomy 06/16 clear margins
Adenocarcinoma 6cm High Grade
pT3 pN2a Stage 3
10 out of 16 lymph involved
MSI-h, Kras mut, Braf wild
Finished chemo Feb. 2017
PET scan showing active area April 2017
July 2017 CT showing LN mass and spread to other LN
Stage 4
Aug 2017 failed Fofiri
Sept 2017 keytruda scans every 3 months showing shrinkage and stability
November 2018 CT shows only 1 small tumour left
September 2019 clear CT finally NED!!!

boxhill
Posts: 789
Joined: Fri Apr 06, 2018 11:40 am

Re: Genetic Testing?

Postby boxhill » Fri Aug 24, 2018 7:38 am

I think that genetic testing can only benefit you and your children/sibs. More information always helps battle the disease and manage risks.

You don't indicate what the initial results were: as stewsbetty pointed out, initial pathology may have tested for KRAS, BRAF, and mutation in the genes associated with Lynch Syndrome. You should know whether your tumor was MSSI-H, MSSI-I, or MSS. You ought to have access to this information.

As a guess, I would think that your initial results indicated that further testing would be advisable. For example, my tumor showed abnormalities associated with dMMR, associated with Lynch. It was important to do further testing of the tumor and of my blood to determine whether this was a somatic mutation--in the tumor only--or germline, meaning I had Lynch, while would have had major implications for me and my son, if he inherited it, and possibly for my sister and four nieces and their children. Happily, it was somatic. The genetic testing DID reveal a germline mutation that carries an increased risk of breast cancer. There is no breast cancer in our family, so maybe it's just me, but I am trying to get my sister, who is very weird about medical things, to get tested, because she has four daughters. If she has it, they need to be tested. If she doesn't, they are probably in the clear.

As to the expense, our potential exposure if insurance denied it was limited to $200. But because of my initial dMMR results insurance immediately approved it. You should ask the genetic counselor about this.

If you don't know the results of the basic tests done with initial pathology--and I am assuming that they are standard of care, but I don't know for sure--look at your pathology report. I was given a copy of mine and also have online access. If you can't find it, ask the genetic counselor.

AFAIK, it is currently illegal to discriminate against an applicant for health insurance on the basis of genetic testing. If the ACA is dismantled, who knows. I would not let that stop me. Your kids can decide what to do in future years. Who knows how medicine will have advanced.
F, 64 at DX CRC Stage IV
3/17/18 blockage, r hemi
11 of 25 LN,5 mesentery nodes
5mm liver met
pT3 pN2b pM1
BRAF wild, KRAS G12D
dMMR, MSI-H
5/18 FOLFOX
7/18 and 11/18 CT NED
12/18 MRI 5mm liver mass, 2 LNs in porta hepatis
12/31/18 Keytruda
6/19 Multiphasic CT LNs normal, Liver stable
6/28/19 Pause Key, predisone for joint pain
7/31/19 Restart Key
9/19 CT stable
Pain: all fails but Celebrex
12/23/19 CT stable
5/20 MRI stable/NED
6/20 Stop Key
All MRIs NED

lakeswim
Posts: 229
Joined: Sat Mar 31, 2018 9:37 am

Re: Genetic Testing?

Postby lakeswim » Fri Aug 24, 2018 8:05 am

Pathology report was brief: Tumour was MMR proficient (pMMR) and "likely" microsatellite stable. What does this mean?
Female - RC dgns @ 49 y
Adenocarcinoma
10-11 cm from anal verge ("large")
Stage 3a - T4N0M0
FOLFOX May -Sept 18
Capecetabine + Radiation - 28 sessions - Oct - Nov 18
Jan 19 - MRI & flex sig show tumor gone, Chest/ab CT no change
Feb 19 - MRI & flex sig show tumor gone
W&W (must travel)
.....W&W surveillance 2019,2020,2021,2022,2023....
Jan 24 - approaching 5 years this Spring with W&W surveillance to end.
*grateful*

Deb m
Posts: 558
Joined: Tue Jan 14, 2014 10:08 am

Re: Genetic Testing?

Postby Deb m » Fri Aug 24, 2018 8:07 am

We had all the genetic testing done, and everything was normal, no abnormal shifts of any kind found. Our oncologist to us were just one of the "unlucky" one's. They told us that our two boys should start getting colonoscopy's 10 years earlier than the age my husband was diagnosed. That tells me that they know there are other genetic factors that contribute to this cancer, but they haven't been discovered yet so they can't test for them. I will tell my boys to start getting their colonoscopy's a lot sooner than ten years before my husband was diagnosed, more like 20 years!

deb m

NHMike
Posts: 2555
Joined: Fri Jul 21, 2017 3:43 am

Re: Genetic Testing?

Postby NHMike » Fri Aug 24, 2018 8:18 am

Genomic tumor testing is testing the tumor biopsy sample to find the genetic mutation of your cancer. This is to help determine treatment or gauge how aggressive your cancer may be.

Genetic testing looks at your genetic makeup to see if you have markers that can indicate higher likelyhood of cancer or if some drugs won't work or would be dangerous.

Aspects of your genetic makeup may be passed to your kids so if they find something in your genetic makeup, it may be worthwhile to check theirs in case they have the same thing.

A recent law enforcement case indicates that there is no guarantee of privacy in genetic testing.
6/17: ER rectal bleeding; Colonoscopy
7/17: 3B rectal. T3N1bM0. 5.2 4.5 4.3 cm. Lymphs: 6 x 4 mm, 8 x 6, 5 x 5
7/17-9/17: Xeloda radiation
7/5: CEA 2.7; 8/16: 1.9; 11/30: 0.6; 12/20 1.4; 1/10 1.8; 1/31 2.2; 2/28 2.6; 4/10 2.8; 5/1 2.8; 5/29 3.2; 7/13 4.5; 8/9 2.8, 2/12 1.2
MSS, KRAS G12D
10/17: 2.7 2.2 1.6 cm (-90%). Lymphs: 3 x 3 mm (-62.5%), 4 x 3 (-75%), 5 x 3 (-40%). 5.1 CM from AV
10/17: LAR, Temp Ileostomy, Path Complete Response
CapeOx (8) 12/17-6/18
7/18: Reversal, Port Removal
2/19: Clean CT

NHMike
Posts: 2555
Joined: Fri Jul 21, 2017 3:43 am

Re: Genetic Testing?

Postby NHMike » Fri Aug 24, 2018 10:54 am

lakeswim wrote:Pathology report was brief: Tumour was MMR proficient (pMMR) and "likely" microsatellite stable. What does this mean?


We have DNA Mismatch Repair mechanism that can repair damaged DNA. Some people don't have it or all of it so they are more predisposed to getting cancer. Microsatellite Stable means you your Mismatch Repair mechanisms are normal.
6/17: ER rectal bleeding; Colonoscopy
7/17: 3B rectal. T3N1bM0. 5.2 4.5 4.3 cm. Lymphs: 6 x 4 mm, 8 x 6, 5 x 5
7/17-9/17: Xeloda radiation
7/5: CEA 2.7; 8/16: 1.9; 11/30: 0.6; 12/20 1.4; 1/10 1.8; 1/31 2.2; 2/28 2.6; 4/10 2.8; 5/1 2.8; 5/29 3.2; 7/13 4.5; 8/9 2.8, 2/12 1.2
MSS, KRAS G12D
10/17: 2.7 2.2 1.6 cm (-90%). Lymphs: 3 x 3 mm (-62.5%), 4 x 3 (-75%), 5 x 3 (-40%). 5.1 CM from AV
10/17: LAR, Temp Ileostomy, Path Complete Response
CapeOx (8) 12/17-6/18
7/18: Reversal, Port Removal
2/19: Clean CT

erins
Posts: 44
Joined: Sun May 27, 2018 12:41 pm

Re: Genetic Testing?

Postby erins » Fri Aug 24, 2018 1:43 pm

I got genetic testing (of me, not my tumor) because of my age (38) and the fact that I’m looking into IVF—basically they look for genetic markers that may show higher risk for certain cancers. I was given the choice between focusing on just colon cancer markers, or all markers (including the breast cancer genes). I chose all markers, and they found nothing. If they had found something, they’d likely increase the monitoring cadence and duration, and potentially add additional screenings (like mammograms if I’d showed the BRCA genes). They also took a family genetic history, tho in my case there were a lot of holes since my mom had passed away.

As for insurance, for now genetic testing is considered private due to the GINA laws ( https://www.hhs.gov/hipaa/for-professio ... index.html ) so it can’t affect your Heath or life insurance coverage (or rates). The ACA likewise made preexisting conditions something health insurance companies can’t charge more for—however there are active movements to undermine this rule currently in the legal system. GINA hasn’t been attacked quite yet, but it very well could be.

For me, I knew I wanted genetic testing for a family kidney issue, so I was already planning to get some genetic tests anyway. Knowing I don’t have other things lurking was a relief—and I suspect If it’d showed something it would be rather like getting my initial diagnosis—scary, but a call to arms, so
To speak.

My genetic counselor was thru the oncologist’s office, and she walked me through all of these discussions—I did this several weeks after surgery (I’m stage 2, so I didn’t have chemo or anything). We weren’t expecting anything—as someone upthread said, I likely just got unlucky.

Good luck!
38 yr old female
Rectal bleeding for 1 month—>
5/4/18 colonoscopy found mass in sigmoid colon
5/21/18 LAR
stage 2a, 0/17 lymph, clean margins
T3N0M0 G1
LVI neg, PNI neg, MSS
9/21/18 CEA 0.8
11/16/18 CEA 0.8 & CT clear
12/7/18 iron infusion
2/1/18 iron improved, CEA stable.

boxhill
Posts: 789
Joined: Fri Apr 06, 2018 11:40 am

Re: Genetic Testing?

Postby boxhill » Sun Aug 26, 2018 10:45 am

MMR proficient means that staining found all of the proteins normally produced by the 4 genes that are involved with mis-match repair. If one or more of them was not present, your tumor would have been dMMR, ie deficient. dMMR is associated with micro-satellite instabililty (MSI). This is because the cells mutates more frequently because the mechanism that repairs mutated cells isn't working properly. If it IS working properly, as in your case, the tumor is most likely micro-satellite stable (MSS).

One implication of that is that your cancer may be less responsive to immunotherapy, but there are nuances emerging all the time.

You really ought to know more; for example, whether your KRAS gene is mutated can determine whether to use treatments that use the EFGR pathway. You ought to know your BRAF status.

https://emedicine.medscape.com/article/1690010-overview

I really think you need more genetic testing on your tumor, at least. I'd do both.
F, 64 at DX CRC Stage IV
3/17/18 blockage, r hemi
11 of 25 LN,5 mesentery nodes
5mm liver met
pT3 pN2b pM1
BRAF wild, KRAS G12D
dMMR, MSI-H
5/18 FOLFOX
7/18 and 11/18 CT NED
12/18 MRI 5mm liver mass, 2 LNs in porta hepatis
12/31/18 Keytruda
6/19 Multiphasic CT LNs normal, Liver stable
6/28/19 Pause Key, predisone for joint pain
7/31/19 Restart Key
9/19 CT stable
Pain: all fails but Celebrex
12/23/19 CT stable
5/20 MRI stable/NED
6/20 Stop Key
All MRIs NED

User avatar
O Stoma Mia
Posts: 1709
Joined: Sat Jun 22, 2013 6:29 am
Location: On vacation. Off-line for now.

Re: Genetic Testing?

Postby O Stoma Mia » Sun Aug 26, 2018 11:45 am


jedimomof3
Posts: 7
Joined: Thu Jul 26, 2018 12:47 am

Re: Genetic Testing?

Postby jedimomof3 » Sun Aug 26, 2018 11:16 pm

I had genetic testing done, and the ironic part is that I don't have any colon/rectal cancer genes. But I am positive for the BRCA1 gene which is the breast/ovarian cancer gene. So a double mastectomy is in my immediate future as well as my ovaries removed in the next couple of years. I never would have known about the gene. Ovarian cancer is what my grandmother was diagnosed with in her early 40's and it killed her. My sister who is younger than me is having a colonoscopy screening in the next few weeks. You never know, and what you doesn't know can kill you.
41 F - Mom of 3=16,14,11
Jan-May 2018-Rectal Bleeding
6-11-18 coloscopy/CT same day
Stage 2 rectal Cancer, T2N0
CEA 5.6
6-18 PET Scan, possible nodes
7-3-18 port placement
7-9-18 start rad & xeloda
7-17-18 decide rad isn't for me, stop treatment
7-25-18 get 2nd opinion
7-27-18 pelvic MRI w/contrast, nodes look clean
8/6/18 genetic results in positive for BRCA1
8-14-18 ULAR (no rectum left), temp Ileo
18 nodes clear, no Chemo!
9-25-18 ileo reversal, port removal
2019 hysterectomy, mastectomy w/recon

Tdubz
Posts: 152
Joined: Sun May 07, 2017 11:01 am

Re: Genetic Testing?

Postby Tdubz » Tue Aug 28, 2018 7:10 am

GINA only protects against discrimination in health insurance and employment and that’s all, it does not protect against discrimination for life insurance. This was explained to me by my oncologist as well and there are a ton of articles about it you can find on the Internet. I already had a life insurance plan before genetic testing so I wasn’t too worried about it, but if I didn’t have one already, I’d definitely get one before I had the test.

lakeswim
Posts: 229
Joined: Sat Mar 31, 2018 9:37 am

Re: Genetic Testing?

Postby lakeswim » Tue Aug 28, 2018 1:25 pm

Tdubz. I assume, at this point, with a cancer diagnosis, I can't afford any life insurance for myself - if anyone will sell it to me. I am most worried about my kids and starting their lives and how what I do and what will limit their options.
Female - RC dgns @ 49 y
Adenocarcinoma
10-11 cm from anal verge ("large")
Stage 3a - T4N0M0
FOLFOX May -Sept 18
Capecetabine + Radiation - 28 sessions - Oct - Nov 18
Jan 19 - MRI & flex sig show tumor gone, Chest/ab CT no change
Feb 19 - MRI & flex sig show tumor gone
W&W (must travel)
.....W&W surveillance 2019,2020,2021,2022,2023....
Jan 24 - approaching 5 years this Spring with W&W surveillance to end.
*grateful*

NHMike
Posts: 2555
Joined: Fri Jul 21, 2017 3:43 am

Re: Genetic Testing?

Postby NHMike » Tue Aug 28, 2018 6:02 pm

lakeswim wrote:Tdubz. I assume, at this point, with a cancer diagnosis, I can't afford any life insurance for myself - if anyone will sell it to me. I am most worried about my kids and starting their lives and how what I do and what will limit their options.


What might be easiest to get is group life with a big company. I still have the policy at work for something like 6x salary. I used to have a term policy as well but the price started rising exponentially when I hit around 49 or 50 so I dropped it.
6/17: ER rectal bleeding; Colonoscopy
7/17: 3B rectal. T3N1bM0. 5.2 4.5 4.3 cm. Lymphs: 6 x 4 mm, 8 x 6, 5 x 5
7/17-9/17: Xeloda radiation
7/5: CEA 2.7; 8/16: 1.9; 11/30: 0.6; 12/20 1.4; 1/10 1.8; 1/31 2.2; 2/28 2.6; 4/10 2.8; 5/1 2.8; 5/29 3.2; 7/13 4.5; 8/9 2.8, 2/12 1.2
MSS, KRAS G12D
10/17: 2.7 2.2 1.6 cm (-90%). Lymphs: 3 x 3 mm (-62.5%), 4 x 3 (-75%), 5 x 3 (-40%). 5.1 CM from AV
10/17: LAR, Temp Ileostomy, Path Complete Response
CapeOx (8) 12/17-6/18
7/18: Reversal, Port Removal
2/19: Clean CT

User avatar
henry123
Posts: 218
Joined: Sun Oct 08, 2017 3:25 am

Re: Genetic Testing?

Postby henry123 » Tue Aug 28, 2018 7:23 pm

Tdubz wrote:GINA only protects against discrimination in health insurance and employment and that’s all, it does not protect against discrimination for life insurance. This was explained to me by my oncologist as well and there are a ton of articles about it you can find on the Internet. I already had a life insurance plan before genetic testing so I wasn’t too worried about it, but if I didn’t have one already, I’d definitely get one before I had the test.



Very good advise.
Do the likewise for your kids for health , critical illness as well as life insurance.
My oncologist advised something to the same effect in an oblique manner.

Also he keeps advising me to keep it highly confidential except from blood relatives who may be affected as it can social implications including unintended and unintentional discrimination. People have long memories.
When recovering , I was visited by a lady , a neighbour and my mother's friend. She pointed out that my mother's brother had been of same age when he had been detected with cancer some 30 years ago . She was wondering if there was a connection. This was before we or doctors had connected the dots.

Definitely definitely get genetic testing. It can totally change your treatment protocol.
If possible, from a lab which will do it confidentially . One my cousins got it done from another country anonymously.
46yo M msi-high Lynch +ve
5/16 lap AR 14/21 L nodes +ve
T4N2M1
7/16 Capox 9 cyc
9/16 cea 2
1/17 550
PET CT mets in lung & peri
iri+ avast fail
3/17 10577
4/17 regro fail
5/17 cea 28800
5/17 CT inc in size of mes nodes ,onset of multi nodules in liver
6/17 Opdivo start
7/17 26754
8/17 5623
9/17 497
10/17 52
CT all clear exc a nodule in Lung. liver norm
1/18 3.6
Aspirin start
6/18 1.5 CT clear
12/18 1.1 NED
1/20 NED Opdivo stop
8/23 1.0 All ok


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