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Genomic profiling approach - any experiences / opinions?

by ping on Thu Jul 02, 2015 9:22 am

There are companies (a particular one I have in mind but don't write since perhaps we should not discuss specific companies) that both provide genomic profiling AND recommendations of targeting therapy based upon the discovered profile.

Does anybody have a sense of how effective this approach has been for the community?

Thanks a lot for any answers.

Ping

ping
Name: ping
When were you/they diagnosed?: December, 2014
Age at diagnosis: 54

Re: Genomic profiling approach - any experiences / opinions?

by lrankin on Sun Jul 26, 2015 11:32 am

I don't know if this is the same genetic profiling, but I thought my myeloma specialist said that if the genetic testing wasn't done before treatment, then it is futile now. I could be wrong.

lrankin

Re: Genomic profiling approach - any experiences / opinions?

by rumnting on Tue Aug 11, 2015 11:30 am

My husband had a bone marrow biopsy last week at Mayo. The aspirate was sent to a lab in Boston to test it for targeted therapy. It will be a month or more before we have the test results.

rumnting
Who do you know with myeloma?: husband
When were you/they diagnosed?: 4/9/11
Age at diagnosis: 54

Re: Genomic profiling approach - any experiences / opinions?

by mrozdav on Tue Aug 11, 2015 12:51 pm

Rumnting and ping,

Is either of you able to give a simple explanation about what genomic profiling is all about? I gather that the profile goes beyond identifying chromosomal mutations, and I also gather that a bone marrow biopsy is required. But what, in concrete terms, is hoped to be accomplished with a profile? Is this approach something very new, so that only a few places can perform it?

mrozdav

Re: Genomic profiling approach - any experiences / opinions?

by rumnting on Tue Aug 11, 2015 8:13 pm

Best as I understand it (and someone here is more knowledgeable, feel free to correct me), it's sort of like using a urine culture to decide which antibiotics would best treat a urinary tract infection. In this case, they use some myeloma cells to see if any chemotherapies treat it best, based on the exact genetic make up of your myeloma.

We spoke to the oncologist today, and he said it actually only takes about 2 weeks to get the re­sults.

rumnting
Who do you know with myeloma?: husband
When were you/they diagnosed?: 4/9/11
Age at diagnosis: 54

Re: Genomic profiling approach - any experiences / opinions?

by mrozdav on Tue Aug 11, 2015 8:31 pm

Rumnting,

You may not be able to answer this follow-up question, but I would appreciate a response from anyone with some knowledge of the issue.

From what you have written above, it seems that myeloma cells are required to be cultured in order to get a genomic profile. If this assumption is correct, how can the test be performed if a patient is in stringent complete response (sCR)? Do you have to be with active myeloma for the test to be of any value? Even if you are with a low level detectable myeloma, isn't there a good chance that the bone marrow biopsy, given the "patchiness" of myeloma, will not produce sufficient cancer cells to do a successful profile?

Your explanation of how genomic profiling works, by the way, is just what I was looking for. I had tried researching the concept several times before, but never had come to any clear under­standing.

mrozdav

Re: Genomic profiling approach - any experiences / opinions?

by Boris Simkovich on Tue Aug 11, 2015 9:06 pm

Hi Mrozdav,

This sort of testing does require myeloma cells for the testing to be carried out. You can think of it being similar to testing for chromosomal abnormalities, which also can only be performed with myeloma cells. With genomic profiling, however, the testing is done at the gene level, in­stead of at the chromosome level. (Chromosomes contain genes, which, in turn, are made up of DNA molecules.)

These tests generally check a certain number of genes, often numbering in the several hun­dred, to see if they have mutations associated with malignancy.

In the case of multiple myeloma, it can be useful to know whether a patient's myeloma cells have a mutation known as BRAF V600E. The mutation is found in perhaps 5 percent of mye­lo­ma patients and, if it is present, means that the patient may respond to a class of drugs known as BRAF inhibitors, which typically are used to treat other cancers, such as melanoma and kidney cancer. One such BRAF inhibitor, Zelboraf (vemurafenib), is being tested in a clini­cal trial with myeloma patients, and I wouldn't be surprised if others also are in trials with myeloma patients, or will be soon.

Genomic profiling can be done in cancer center laboratories or at one or two commercial ser­vices that I'm aware of. One of the commercial services is FoundationOne; it's based in Cambridge, Massachusetts, and is probably the service to which the sample from Rumnting's husband was sent. (If anyone knows of other commercial services similar to FoundationOne, or cancer center labs that provide a similar service, let us know.)

Boris Simkovich
Name: Boris Simkovich
Founder
The Myeloma Beacon

Re: Genomic profiling approach - any experiences / opinions?

by mrozdav on Tue Aug 11, 2015 10:13 pm

Thank you, Boris. Very helpful.

mrozdav


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