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Genetic & Genomic Testing – Your Experience with One or Both?

cmb's picture
cmb
Posts: 282
Joined: Jan 2018

These types of tests have been discussed in many posts, but I thought it might be helpful to bring together the experiences from different ladies in this single thread for the newer members.

For those who are new to the subject, there is a nice explanation of the difference between genetics and genomics (and the related testing) on the CTCA's website:

https://www.cancercenter.com/discussions/blog/what's-the-difference-genetics-vs-genomics/

Some women, like myself, have had genetic testing. Others, especially those facing a recurrence of their cancer, have asked for genomic testing on their tumors to determine which treatments are more likely to be successful in treating the cancer. And other women have had both types of tests.

In my case, the pathology report from my hysterectomy indicated that I may have Lynch Syndrome, a genetic mutation that predisposes me to several types of cancer including colon and endometrial cancer, amongst others. This initial indication was later confirmed by "whole body" genetic testing to determine if the mutation was inherited (it was in my case) versus a mutation specific to my tumor. I did not choose the genetic testing company (Ambry Genetics) – it was the company used by the genetics counselor I met with after my surgery.

I think it's important to note that I had no reason to think that I might have a genetic predisposition for cancer. Although my father died of colon cancer, he was in his 80s when diagnosed. My mother had cervical cancer at 62 (about the same age as my uterine cancer), but I was always told that cervical cancer is not hereditary. I have no other close relatives with cancer. Despite this limited family history of cancer, the decision to test the tumor anyway was made by my gynecological oncologist.

While I wish I had known that I had Lynch Syndrome when I had my first benign uterine polyp 10 years ago, knowing it now does give me another treatment option (Keytruda) in the future if my MMMT cancer comes back. And after reading the posts on this board, I also know that I can have genomic testing done if that seems appropriate to prevent or manage a recurrence.

As for costs: My insurance company paid for the pathology testing on the tumor without issue. However, they refused to pay for the later genetic testing since I "didn't meet the Amsterdam II criteria" used to flag potential cases of Lynch syndrome (despite the indication on the pathology report). After their refusal to pay, I filed an appeal with the insurer. This was successful. The original cost of the genetic testing was $7,100. After my claim appeal was approved, the insurer paid the discounted rate of $5,300 to the genetic testing company. Since I had met my deductible for the year, I did not have to pay anything extra.

I was contacted by Ambry Genetics early on and encouraged to complete an application for financial aid. Since my insurer ultimately paid for the testing, I did not pursue this option.

pinky104
Posts: 574
Joined: Feb 2013

I guess I've had both types of testing.  My genes were checked for a defect that caused hemochromatosis when my ferritin level was found to be very high a few months after my original surgery.  I was found to have a mutation called an H63D defecct that sometimes causes iron overload and sometimes doesn't.  A few years later, I asked my GYN/onc. if I could have genetic testing since my mother and grandmother both had breast cancers, my father had prostate cancer, and a half-sister had lymphoma by then.  A first cousin also had breast cancer since then.  The HMO insurance I had at that time wouldn't pay to test me for the BRCA mutations but they would cover the test for Lynch Syndrome, which was negative. That test was $4,000.  This past summer, I got genomic testing done by Foundation One after my second bout of cancer.  They submitted it to Medicare and United Healthcare (I'd gotten rid of the HMO by then).  That was supposed to cost $5,800.  I know it wasn't paid for at first by my insurance and it was being resubmitted by Fuondation One.  I haven't heard any more about it, so Foundation One either got paid or wrote the cost off.  They are very generous with their financial help.  I didn't turn out to have the BRCA mutations, but I did have 6 other mutations (not including the one that caused my hemochromatosis).  Four drugs were mentioned as working on four of the six mutations, but none had been tested on UPSC, so my oncologist said they wouldn't be covered by any insurance as they were expensive drugs and not officially approved for my cancer.  I also considered a new parp inhibitor that had just been approved by the FDA, but it had a risk of causing another type of cancer, so I ditched that idea.  Now I'm probably having an allergic reaction to Metformin, which I was told would work on four of my six mutations .  I have hives and itching on my back, so I'm off that and another drug which is less likely to be causing the reaction, for two weeks to see if the hives and itching go away.  I guess the genomic testing didn't really do me any good, which is a shame, considering the cost of it.

cmb's picture
cmb
Posts: 282
Joined: Jan 2018

Pinky your experience does make one question the benefit of genomic testing if the most effective drugs aren't approved for the types of uterine cancers that many of the women on this site have.

On the other hand, the FDA's approval of Keytruda for recurrent tumors with microsatellite instability last year could give women like me a new treatment option in the future that we didn't have before. Of course that doesn't mean that our insurance companies would actually pay for the treatment!

And I'm afraid these expensive tests may get even pricier in the short-term, given the Medicare proposed rule change posted by Northwoodsgirl at https://csn.cancer.org/node/315182. Fewer choices often leads to higher prices. Bad news for anyone paying out of pocket for these tests.

In the meantime, I hope your hives problem resolves soon. I've taken Metformin for several years, but hadn't realized that it could cause those types of allergic reactions.

 

Northwoodsgirl
Posts: 486
Joined: Oct 2009

Pinky104 and CMB- so interesting this information. I started testing for Lynch Syndrome but honestly it was right after my radiation and I just didn’t pursue further after the microsallate on my tumor specimen was tested twice and it was “inconclusive “. They wanted to draw some blood for the next test and I said no. I don’t have children so....that was not a worry. I wasn’ t really even thinking about me but more about my nieces and their future generations.  But my Mom also died of uterine cancer at age 72 and my 88yrs old Dad was just diagnosed with colon cancer. The other cancers in the older generations of my family were kidney, stomach ( possibly colon) and throat cancers. I also have a Grand niece ( my sister’s granddaughter that was diagnosed with medulla-blastoma (brain cancer) at 11 months old. My grand niece is a survivor and is 9 years old now.  It is strange that some cancers have a 20% chance of being hereditary and others much less. The payers/insurance companies are very concerned about the growing spend for testing genetic or genomic. They don’t want to pay for “panel”

tests nor for genomic tests. 

cmb's picture
cmb
Posts: 282
Joined: Jan 2018

Your family has certainly had more than its share of cancer. But very good news about the grand niece. Cancer isn't great at any age, but it's especially bad when it affects children.

After I learned I had Lynch Syndrome, my three siblings also get tested. Their tests were pretty inexpensive since the lab only needed to check for the MSH6 mutation.

Thankfully my sister with seven kids, grandkids and soon to arrive great grand kids was negative for Lynch, as was my other sister. However, my brother does have Lynch. So it was 50-50 amongst the four of us.

While we don't know which parent passed this on, neither my brother nor I have children. So hopefully this mutation ends with us.

My one sister and brother are really into genealogy and have already done the ancestry DNA tests, amongst other ones. So they really wanted to know if they had the mutation. We did have to push my oldest sister to get tested– she'd rather not think about being sick in any way. But since she's the one with all the kids we told her to suck it up and get tested. So now her kids and their kids don't have to worry.

pinky104
Posts: 574
Joined: Feb 2013

I'm curious to know how you found out you have a tumor with microsatellite instability.  I haven't seen that term on any of my reports, so maybe I don't have one of that type. 

The hives are not as itchy today, although they're still not completely gone.  I took my last pills on Saturday morning, so it seems like the hives should be totally gone by now.  The scalp also was not so itchy.  I found an old bottle of apple cider vinegar in a cabinet today before I went grocery shopping, and I haven't even had to use it.  Maybe it really wasn't psoriasis on my scalp, but a reaction to Metformin as I'd originally expected.  I'll be so glad if that's true, because I think I'd go mad with itching like that for the rest of my life.

cmb's picture
cmb
Posts: 282
Joined: Jan 2018

The pathology report from my hysterectomy actually listed the results of the lab's tumor screening for the four microsatellite instability/HNPCC by immunohistochemical markers: hMLH1, hMSH2, hMSH6 and hPMS2. Of these four, only MSH6 was flagged as abnormal. The others were listed as normal.

The report then states "IHC results indicate that this tumor has possible microsatellite Instability, see comment

Comment: MSI by PCR ordered."

This led to the subsequent testing by Ambry Genetics to confirm the MSH6 mutation was genetic, resulting in Lynch Syndrome.

While the tumor screening was limited to these markers, I'm glad it was ordered. I really didn't think I was at risk for any type of hereditary cancer.

Happy to hear the itching is getting under control. That would have driven me crazy too.

 

takingcontrol58
Posts: 233
Joined: Jan 2016

Pinkky,

It is on your Foundation One report, in the box on the right (on first page).
Says microsatellite stable.

I had never heard that metformin can cause psoraisis.  I hope you can get to
the bottom of this because metformin targets four of your mutations; I would
try to stay on the drug if I was in the same situation.

Takingcontrol58

 

 

Northwoodsgirl
Posts: 486
Joined: Oct 2009

Based on what you are sharing CMB I am rethinking getting my testing done. I have three siblings and they all have children. Thanks Pinky and CMB. I always learn or gain something new from what is shared in this forum!  ((Hug))

Lori

MrsBerry
Posts: 102
Joined: Dec 2017

I am currently trying to get my insurer to pay for the Lynch testing, I detest the rigmarole but I understand the reluctance on the part of insurers. I do not fulfill the Amsterdam criteria, either...bit there are some Lynch cancers in my family history, and I do not fit the usual profile fornEndometrial Ca. I have two kids and three grandchildren, so Ipray I do not have it, not so much for my own sake, but for theirs.

cmb's picture
cmb
Posts: 282
Joined: Jan 2018

When I filed my claim appeal, I referenced a section from the "Clinical Guidelines for Medical Necessity Review of Lab Management Services," a guidance document made available by my insurer on their website for medical providers. This is a 590+ page document that details what is considered "medical necessity" for various lab tests. It also lists the recommendations from various medical bodies (e.g., Society of Gynecologic Oncology) for testing of mutations like Lynch Syndrome.

The version of the Guideline that was inforce at the time of my surgery stated

"Three main approaches to Lynch syndrome genetic testing are appropriate in different clinical situations:

Testing those with a suspected Lynch syndrome-related cancer should begin with microsatellite instability and/or immunohistochemistry testing on tumor tissue, which is discussed separately. If these tumor tests suggest Lynch syndrome, that individual should be offered genetic testing to look for a mutation that causes Lynch syndrome…"

I based my appeal on this condition and was successful in getting the insurer to pay for the subsequent genetic testing.

You may want to see if similar documents are available for the medical providers on your insurer's website. If so, a review of the one on lab testing may give you some justification for having the insurer pay for the genetic test.

Good luck!

MrsBerry
Posts: 102
Joined: Dec 2017

Thanks for this information! I already have immunohistochem results with a loss of expression in 2 of the Lynch associated genes, and my doc is resubmitting the referral. I am hopeful that will do the trick, but it will be good to have a backup plan for appeal, should I need it. 

christine8822
Posts: 36
Joined: Mar 2016

Hi, my pathology report on my tumor in 2015 showed it was MSI-H. At the time, nobody really thought anything of that - it was before Keytruda was approved. At any rate, my treatment progressed. Partway through the treatment, the hospital system got a new "genetic oncology" office. Suddenly, my doc was like, you better go there. I went for a consultation. I had no cancer in my family. I had no other cancers before this one. The doctor asked me a million questions. I was not sure I needed genetic testing. I said go ahead and get the insurance approval and I'll do it. 

First thing I know, the insurance company declines approval saying there is no indication of any family history of cancer, no reason for test. The doctor appeals. Declined again.

In the meantime, get this -- I go to the ear doctor. The nurse calls up my chart. "What's all this stuff about your uncle and his heart disease?" she asks. The genetics doctor had blabbed and posted the entire interview with me on my medical chart, including every detail about all my relatives and their medical ailments! I was furious. I asked the genetics doc's office to remove the report from my chart. She said, no can do. I called the head of medical records at the hospital system. He said, no can do.

And I didn't even have the genetics test itself, ladies. 

Before you do all this, think about who you want to know about your genetics and your family's genetics. The world will know, once you consent to see these doctors. 

It probably is worth it if you have a strong lynch syndrome or other genetic history of cancer, but otherwise, think twice.

 

cmb's picture
cmb
Posts: 282
Joined: Jan 2018

I can understand the hesitation in getting genetic testing done without relevant family history. I didn't have the usual family history of cancer that would indicate a genetic mutation.

Also, I've bought my own health insurance since I was 25 and in the past I was concerned that a genetic test that showed some defect could enable insurers to reject me from getting or renewing my health insurance policy.

Once pre-existing conditions were eliminated as an insurability factor a few years ago, I felt better about having the test done last year. Of course, now knowing that I have Lynch Syndrome, I wish that I had known ten years ago so that I could have opted for the total hysterectomy back then when I had a benign uterine polyp and skipped the whole MMMT cancer mess.

I guess that I'm less sensitive to the issue of multiple providers knowing my medical history and risk factors. At this point I'm more concerned when they don't share information. For example, my medical oncologist didn't know that I had Lynch Syndrome until I was done with chemo, although I had originally requested the report be sent to him, as well as to my PCP and gynecological oncologist. It wouldn't have changed my front-line treatment, but would certainly be a factor if I have a recurrence. His practice was on a different electronic records system at the time, so that's why he didn't see the note in my electronic record either.

Just this week I had a single instance of spotting. Since I was already scheduled to see my PCP for a regular checkup that same day, I asked her to do a pelvic and rectal exam while I was there (she used to do them before I had cancer).

The nurse in the gynecological oncologist's office had already said this would be fine when I called that office earlier in the day. The PCP could confirm in the records my statement that I had just had an exam by the gynecological oncologist a couple of weeks ago that didn't indicate any problems. Her exam didn't show anything wrong either, but she sent over a message to the gynecological oncologist explaining what she had done and the result so he stays informed.

Does my eye doctor know more about my cancer treatment than he technically needs to know to alleviate any treatment side effects? Perhaps he does since he shares the same electronic medical records system as most of my other providers. But frankly at this point I don't really care. I figure that more people who are looking at my case the better advice I'll receive about treatment if each provider is aware of what the others are doing. While I do try to keep each of them in the loop, things can slip through, as can be seen in my medical oncologist example.

derMaus's picture
derMaus
Posts: 504
Joined: Nov 2016

SGO guidelines from 2014 recommended Lynch testing for all endometrial cancers. Here's the original statement:

https://www.sgo.org/clinical-practice/guidelines/screening-for-lynch-syndrome-in-endometrial-cancer/

Your insurance is probably using the Amsterdam criteria, which is much more restrictive; in fact, your whole family would have to be riddled before they approved on that basis. My family has none of that criteria but, gee whiz, I turned up Lynch positive. I know enough about genetics to understand how traits can skip around, and I'm pretty sure mine came down through my grandmother's side, but that's neither here nor there.

Access to my medical information is a moot point as I see it:  I already have cancer and am a bad risk any way you cut it. Pray the insane political climate doesn't rescind Obamacare provisions regarding pre-existing conditions, or we'll all have a lot more problems than nosy medical people inappropriatly talking about your family background. BTW, that was a big fat HIPAA violation and I suggest you might want to file a complaint. Here's the HIPAA website just in case you're curious: https://www.hhs.gov/hipaa/for-professionals/privacy/laws-regulations/index.html

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