Gene and Protein Testing for MBC - AKA Personalized Medicine

zarovka

I am studying gene testing and protein testing for MBC. Otherwise known as Personalized Medicine. The Breastcancer.org pages on genetic testing seem a little out of date. They focus on genetic testing for early stage cancer to see if it is likely to metastasize. I am also not interested in hereditary genes that increase the likely hood of cancer.

I am interested in sequencing the genes in the tumor itself to guide treatment. Certain genetic mutations respond to certain drugs regardless of the tumor of origin. You can take a drug that works for one organ and potentially use it effectively across many types of cancer. Or at least that is one way to use these tests. Just learning. Curious if anyone's oncologist has ordered any of these tests.

OncoDNA does both DNA and protein testing.

Foundation One Just does DNA. Seems to cost about $5K

Caris Molecular Intelligence

Has this been useful for anyone? Has it changed your treatment? Has it been successful?

Did insurance cover the testing?

pajim

I have had this done. By two separate groups. One is the Broad Institute in Cambridge, the other the Partners Biobank in Boston. Both are studies wherein the groups are creating a biobank so no cost to me (or my insurance).

The Broad sequences the entire tumor and sends a report on known variants to your oncologist. My reports says "got nuttin". I have one mutation of interest for which someone is developing a drug but no drug exists yet.

That said, they sequenced by tumor from my [early stage] mastectomy. It's possible that if I had enough tumor for a biopsy they would find something different. It's likely they will sequence the mets someday when we feel like doing a biopsy.

JFL

I had the Foundation One test in March following progression. My doctor sent tissue samples from my diagnosis 15 months prior.

Still pending with insurance. Foundation One sent me a letter saying they will work on my behalf to try to get it approved if my insurance rejects the claim and that it can take up to a year to run through appeals with insurance. My insurance hasn't rejected the claim yet so no appeals have been filed. I don't know exactly why it is still pending.

It has not changed my treatment but served to validate that my doctor will give me Afinitor in the future and that I was a candidate for Ibrance (which I already had). My doctor also used it to confirm my HER2 negative status from my original biopsy. I believe there will be additional uses for the results in time, as new medical advances come out.

pwilmarth

I'm glad that you're researching this. It seems to be the current wave of thinking. I suspect that there's been some sort of genetic testing on my original tumor because I'm in the SystHER registry and they asked for a sample from my tumor when I enrolled in the study - which is research funded by Genentech. Don't know the results, but Genentech is one of the leaders in targeted therapies.

ShetlandPony

On a recent liver mets post, I mentioned personalized medicine, and I decided to respond to Zarovka here and bump this thread she started last year. I want to use personal genomics and cancer genomics to inform treatment choices and not go by trial and error if we don't really have to. What mutations does the cancer have? That is the question posed above. But also, what germline mutations do I have that might influence treatment choice? And what about the enzymes that metabolize drugs? As Z indicates in the original post, the future of cancer treatment will not be by site; for example breast cancer, colon cancer, lung cancer, etc. It will be by tumor characteristics that cut across sites; for example, a microsatellite unstable tumor or a tumor with an ERBB2 mutation, wherever in the body it starts. And how an individual would be expected to metabolize a particular drug, based on a genomic test.

My kid had a test done to check for drug metabolism (non cancer-related). It came back as poor metabolizer phenotype for drugs that use the CYP2D6 enzyme. Both alleles produce no enzyme activity. None. One of these alleles is from Dad and one is from Mom. So I have at least one no-activity CYP2D6 allele. That is the enzyme that metabolizes Tamoxifen. %$#*&^@! I know that CYP2D6 testing for Tam has been controversial, but if I had known this information about my own type when I was agonizing over Tam vs. ovarian suppression/ooph in 2011, it would have been the final straw to make me choose ovarian suppression/ooph in spite of the oncologists' lack of concern, and I should have been given the information. My onc at the time simply said the latest study (at that time) didn't conclude it was important. The 2014 meta-analysis I found concluded that it is important. Too late.

So I am not willing to go by trial and error. Order the tests that show what gene variants or mutations I have or the cancer has, and give notes about how they relate to treatment. I'll research to find out everything I can about it. I don't care if everything is not yet tidy and conclusive. Give me any edge I can get, any clue that might help me.

Heidihill

Shetland, I think it is still trial and error even with the tests but maybe less error. I tested as an ultra rapid metabolizer for Tamoxifen back when I was still on Femara. So when it came time to decide switching to Tamoxifen due to side effects from Femara I felt comfortable doing so. I was also just given half a dose. My onc checks for estrogen levels and endoxifen levels (the latter is the metabolite of Tamoxifen) to see if things are working as they should be. It is good to know that I am getting a therapeutic dose without the nasty side effects of overdosing.

AnimalCrackers

Shetland - thanks for bumping this thread! I had not seen it before.

illimae

I have not had these tests but a very interested in this medical path. I saw a show called Breakthrough recently with an episode called curing cancer. In it, doctors used re-engineered T cells to create cancer killing cells, which cured lymphoma in the patient profiled and giving him permanent immunity, at least for that particular cancer. Sounds like amazing steps but of course funding is an issue.

fredntan

I had Caris done in 2013-my doc used it to see which chemos would work on my mets. he got me to ned in 6 monthse. chemo continued for at least another year. in meantime he did foundation. It showed other chemos that would work on me...but was unable to get them due to them not being approved for BC. I have chemo brain so some of this may be mixed up in brain. I jst got my final bill from foundation...3K...it uncluded a financial assistance form. insurance paid for caris

Husband11

Here is a very good show about Personalized Oncogenomics Program.

http://www.cbc.ca/natureofthings/features/everythi...

Heidihill

http://www.telegraph.co.uk/science/2017/07/03/chief-medical-officer-every-cancer-patient-should-have-dna-tested/

All cancer patients should have their DNA tested to save lives