Color Genomics | Genetic Test | 30 genes | $249

JohnSmith

A California company called "Color Genomics", (www.color.com) is offering a $249 saliva test kit for breast and ovarian cancer.
2016 UPDATE: They have expanded testing from 19 genes to 30 genes, to cover other cancers. Still $249.

For those who prefer videos, here's a quick 2015 CBS news clip discussing this inexpensive genetic test:
Will new genetic test for breast cancer be a game-changer?

It analyzes these 19 that have been associated with breast and ovarian cancer.

ATM
BARD1
BRCA1
BRCA2
BRIP1
CDH1
CHEK2
EPCAM
MLH1
MSH2
MSH6
NBN
PALB2
PMS2
PTEN
RAD51C
RAD51D
STK11
TP53

2016 UPDATE: A total of 30 genes are now tested. The additional 11 genes are:
APC, BAP1, BMPR1A, CDKN2A (p16INK4a and p14ARF), CDK4, GREM1, MITF, MUTYH, POLD1, POLE, and SMAD4. These additional genes are associated with: colorectal, melanoma, pancreatic, prostate, stomach, and uterine cancer.
[End of 2016 Update].
----
In terms of breast cancer, for those with Lobular (ILC), the test includes the CDH1 gene. Like the well known BRCA gene, CDH1 is a "tumor suppressor" gene. CDH1 is responsible for encoding the cell-to-cell adhesion protein E-cadherin (Ecad). The hallmark of Lobular is the loss of Ecad. Without Ecad, ILC grows diffusely, a big reason why imaging (mammography) fails most women with ILC.

This test is now available internationally. Within the U.S. they can not ship to Florida, Maryland, New York, Pennsylvania, or Rhode Island, as each state has different regulatory requirements around genetic testing.

My wife had the same exact 19 genes tested in 2014 by a company called Invitae, and spent over $2000 out of pocket, since insurance considered it "experimental" and only covered a portion. That test found two VUS's (Variant of Unknown Significance) in the ATM gene, both considered "Likely Benign".

Genomics and genetic testing are exciting, but we are living in the Wild West. There's been some articles warning of the issues of doing these tests. In fact, BCO moderators posted this thread: "If Genomic Analysis Is Done, Genes of Both Cancer Tumor and Normal Tissue Need to Be Analyzed". Please do your due diligence and talk to genetic counselors. If necessary, get a second opinion.

Note: There's two types of testing:
1. Testing normal tissue ("germline" mutations): This is genetic testing to identify inherited mutations that predisposed you to cancer. This is what Color Genomics is offering.
2. Testing cancer tissue ("somatic" mutations): This type of genetic testing examines your cancer cells to look for mutations that might drive the tumor's growth.
In both cases, mutations found may not have therapies that target these mutations, so keep this in mind.

Also, there's various tiers to genetic testing, in terms of how many genes are tested.

Tier 1 is the most common. Genetic companies (Color, Ambry Genetics, Invitae, Myriad, GeneDx, etc.) all offer these simple tests that look at ~20 genes which are associated with BC. This is usually a saliva test and does not involve testing the tumor.
Tier 2 is more expensive and often used for advanced stage cancer or when a cancer recurrence occurs. Beyond the simple 20 gene tests, these tests look at hundreds of genes. Companies that offer these tests include Foundation Medicine's "FoundationOne test", which looks at 315 genes. Another example is The University of Washington in Seattle which offers the "UW-OncoPlex - Cancer Gene Panel". It looks at 234 genes and costs ~$2250. Sloan Kettering in New York City offers MSK-Impact, which looks at ~400 genes. Again, these tests are often implemented at the time of a recurrence and specifically test the actual tumor for somatic mutations.
Tier 3 is the whole enchilada. This is called full genome sequencing (or whole genome sequencing), which examines all 20,000+ protein encoding genes. Very few get their whole genome sequenced. NantHealth offers a very powerful test called "GPS Cancer" that examines all 20K genes. It goes way beyond genomics and includes complete RNA sequencing (Epigenetics or gene expression), as well as Proteomics analysis. In other words, it looks at your cancer tissue at multiple levels - the DNA, RNA, and Proteins. This high powered assay offers the ability to identify the "molecular fingerprint" (key drivers) of one's cancer, which increases the chance of identifying a successful therapy.

farmerlucy

This test looks very thorough compared to Myriads myRisk - below are the genes it analyses (From the Myriad Website)

APC CDKN2A1 PMS2 ATM CHEK2 PTEN BARD1 EPCAM2 TP53 BMPR1A MLH1 RAD51C BRCA1 MSH2 RAD51D BRCA2 MSH6 SMAD4 BRIP1 MUTYH STK11 CDH1 NBN CDK4 PALB2

Unless otherwise noted sequencing and large rearrangement analyses were performed on the above genes. Other genes not analyzed with this test may also be associated with cancer. 1 Analysis of p16INK4a and p14ARF.

Also FWIW I am reposting a link to Myriad's gene table and associated syndromes.

https://www.myriadpro.com/myrisk/why-myriad-myrisk...

This is very exciting stuff!

bevin

I would buy this. wish that NY and Fl were not off the list. darn state rules.

Lojo

I imagine many of you are in a similar position, so I'll ask the question: I've had the BRCA 1/2 test and am negative. I have no sisters and no daughters. My mother died of premenopausal BC, but both her sisters and their daughters were/are fine (I'm the youngest cousin, by many years). I've had a BMX, rads and am on tamoxifen. At this point, beyond knowledge for knowledge's sake, what is the benefit in knowing my status on the rest of these mutations? As far as I can tell, they won't help with any treatment decisions, as of yet. I still have my ovaries, and if I'd been BRCA 1 / 2 positive they'd be gone.

I'd definitely consider getting tested for these mutations if there were treatment decisions that could result from knowing my status, and I will if new info comes out. Any advice/comments? Or is there info from these mutations that my sons would need to know (now, as kids/teens?)

voraciousreader

John....these genetic blood tests are going to get better and better in the near future and cheaper too! Reading Eric Topol, MD's most recent book, The Patient Will See You Now

http://www.amazon.com/The-Patient-Will-See-You/dp/...

and his prior book, The Creative Destruction of Medicine,

http://www.amazon.com/The-Creative-Destruction-Med...

one can follow these developments that are changing the delivery of health care. Soon, most population based image screening will be replaced with genomic blood tests. Dr. Topol tells us of "panoromic" testing. Dr. Topol coined this new word to describe all of the different types of "onomics" that will be evaluated when investigating one's health. For example, metabolics and genomics. Likewise, by determining an individual's risk of getting a disease based on a panoromic view, fewer people will require generalized screening. Hopefully, the money saved by doing fewer images could be spent on research instead! Dr. Topol is confident that genomic tests will ultimately be much cheaper and more accurate than imaging.

The last time I visited researchers at Sloan Kettering, they left me with some stunning developments. First, they told me genetic discoveries are occurring faster and faster each year. One discovery was spectacular! They were able to "see" blood markers of a cancer progression before a patient became symptomatic AND before it could be seen in imaging. What that means is that treatments could be changed more quickly for those with metastatic disease.

We are living through a very fascinating time!

JohnSmith

@Lucy. That's a great gene table. Very clear.

@Lojo. Excellent questions.

Here's my theory of why it might be useful. Genomics is leading to Personalized medicine. If someone tested positive for a gene mutation, despite having surgery to remove the primary tumor, the original underlying cause (the genetic mutation) still exists. I'm not a scientist or MO, but perhaps the mutation could fuel recurrence. Scientists are working on targeted therapies for each of these gene mutations. Without knowing your genetic mutations, one might miss out on a future targeted drug, which could affect prognosis.
In terms of potential targeted therapies, the thread "ILC and Stomach Cancer" discusses the CDH1 gene mutation. Dr. Parry Guilford at the University of Otago in New Nealand has been researching CDH1 for years. He thinks HDAC inhibitors might be useful for CDH1 gene mutations based on cell line observations. The idea is that the inhibitors disrupt certain proteins leading to cell apoptosis. The research has a long way to go.

Another example of targeted therapy based on gene mutations includes Dr. Bidard's case study of a patient with a HER3 mutation (ERBB3 gene). Given the mutation, the Stage 4 patient received dual HER2 blockade (trastuzumab & lapatinib) and now is disease free, one year later. Read that story in this thread: HER3, a new target in stage IV breast cancer (lobular subtype++)

Lojo

Thanks John.

I'm not opposed to these additional tests. Knowing my CDH1 gene status might be useful - but only once the medication is available. (Unless knowing some of these mutations would trigger stepped-up screening. I think they do screen people with a family history of certain types of stomach cancer with endoscopy). But. I think to some extent, it's so unclear what the penetrance is of some of these genes, and what level of increased risk is contributed by having these mutations.Knowing BRCA status has some current utility in terms of ovary management. The Oncotype DX microarray to look at gene expression in tumor samples has been proven to help manage treatment options. I'm certain there's probably a genetic component to my cancer - detectable with current technology or not. Until I was diagnosed, however, I'd really been hoping my mother's diagnosis was just a random occurrence, as neither of my aunts ever had any issues, and it seemed isolated. I worry that I will worry.

Hopeful82014

Knowing of some mutations has enabled family members to obtain specialized screening that never would have been offered to them otherwise. Such screening gives them a very good chance of heading off life-threatening situations before they develop. They were not aware of the availability of such screenings until after their mutations were identified. Further, they will be notified of any future findings that relate to their situations.

For me, knowledge is power. If I have a mutation floating around, I want to know about it. Then medical guidance as to management is welcome. I think MDs talk about their concern for 'the worried well' when perhaps they are more uncomfortable with the notion of 'the empowered well.'

JohnSmith

Other than BRCA and CDH1, I don't know the clinical relevance of the other genes. It would be ideal to hear from anyone who tested positive for one of these other genes, so we understand treatment recommendations.

Has anyone done Full-genome sequencing? The cost has dropped significantly which makes it tempting, yet I assume the field hasn't matured enough to elucidate the results (i.e. clinical relevance).

voraciousreader

john...read Dr. Topol's most recent book. He devotes several chapters to genetic sequencing. There is a lot more going on in our bodies than previously believed! Back in the day, researchers labeled some DNA as "junk" because they believed it served no purpose. As they began to realize that some of the labeled "junk DNA" actually had a purpose, they became more humble and in awe of the human body. Dr. Topol explains in detail how genetics is just the tip of the iceberg when it comes to individualized medicine.....

JohnSmith

Here's some news.
Color Genomics is using its ties within the startup community to get more than a dozen startups and venture firms to cover half the cost of breast cancer testing for employees.

Also, in honor of Breast Cancer Awareness Month, they are offering $50 off the normal $249 price for October.
Here's the link.

farmerlucy

That, friends, is an incredible value.

Maureen1

Thanks so much for posting this special pricing for the month of October! I just ordered my kit - $199 is less than the copay for the genetic test from Myriad labs;)

glennie19

Wonder if FL is still excluded,,,,,

JohnSmith

It appears Florida, Maryland, New York, Pennsylvania, or Rhode Island are still excluded, but it might be wise to email them to verify.

Did anyone here do this test?

What were the results?

flaviarose

I did the test, it came back positive for Chek2 - something I'd never heard of - it is a defect in a tumor suppressor gene - higher rates of breast and colorectal cancer. Also prostate. My dad and his brother had prostate cancer, their sister had ovarian cancer. I always suspected that there was a genetic component. My insurance refused genetic testing, so I did the color genomics on my own. Had I know from the get go, I might have opted for a bilateral mastectomy vs. a lumpectomy.

farmerlucy

I did. No mutations found. GC counseling phone call post results was excellent

AmyfromMI

I ordered this test a week ago on Friday. It was delivered last Monday and back in the mail to them on Wednesday. I could not believe how fast the kit arrived. I like that they are testing 19 genes. When I had my genetic testing through Myriad 2.5 years ago, they only tested three genes (negative results on all three). Given my family history, mother with stage IV colon cancer (currently NED 5.5 years!), maternal aunt with breast cancer (20 years with no recurrence!), maternal grandfather colon cancer (deceased), maternal grandmother endometrial cancer (deceased), I want as much information as possible for my children.

For those of you who did this test, what was your turn around time with results?

katcar0001

Does anyone know if I can order the test now to be sent to my father's address is CA and then I can do it and send it back in Dec.? Or is there a timeframe they give you? I hate to miss out on this good deal.

flaviarose

It is a long turn-around time to get results - like 12 weeks maybe.

AmyfromMI

katcar,

I think the kit itself is good for a year before expiring. I'm sure you can have it sent to your dad's and activate it when you're ready to send it back. There was nothing in the instructions about a time frame to return it

farmerlucy

kat - It would be very easy to have it sent to your dad. Have him send it to you and you send it in from Mex if you can. After the submission everything else is done by email, online, or by phone. OR I'll bet you could wait a few months to submit. The co is extremely customer oriented.

Amy - I submitted sample in April and got results approx early August. I do feel early on they were really backed up esp w all the press

AmyfromMI

Thank you flaviarose. I was hoping for a shorter turn around time but I imagine they are swamped with business

katcar0001

Thank you Amy and Farmerlucy! I am going to do it!

glennie19

Thinking maybe I could get it mailed to someone not in FL?? and then submit it? Hmmmmm. Do they explain why they don't do FL residents?

vlnrph

All of you need to be aware that various labs test for different mutations and you really need to have genetic counseling in order to determine which company to use, if any! Negative results mean nothing, indeed can lull one into a false sense of security, should critical factors be missed. I would hope that follow-up discussions including ethnic origins would highlight the possibility of rare defects being present, for instance RAD 50 abnormalities in those of Scandinavian descent. Ambry looks for that but not Myriad or Color Genomics...

Juliecc

That's good to know but I might do Color Genomics because it would only be $200. I was denied genetic testing because I was 46 at diagnosis and not 45 or younger. The lump was there when I was 45. I want to know because then I can make an informed decision about wether I should get my ovaries removed. I also want to know if my mother or children might be at risk.

farmerlucy

I checked the genes they test against Myriad (which ins denied) and Broca (which ins denied) and Color covers the same "biggies" that Myriad does for breast and ovarian cancer.

I heard about the Scandinavian connection (Braca2??) when my bro was doing braca research. Very interesting. My grandmothers lineage is from Holland, And when I was pulling together my medical family tree about four or five generations ago nearly half of the women AND men died of BC. We called it the Kellogg Cancer curse. That at least seems to have been washed out of the gene pool. It's the other side of the fam that has the scary early onset.

Juliecc

I ordered the test today and got a confirmation email (see pic). Knowing whether I carry the BRCA gene has been weighing on my mind. I want to know if my mother or children are at higher risk and if I should get my ovaries removed. Despite being diagnosed at 46, I was denied genetic testing through my insurance (Kaiser) because their cuttoff age is 45. Also, none of my first degree relatives have had cancer. My grandmother had colon cancer, my grandfather had prostate cancer, then my great grandfather's sister and her 2 daughters all died of breast cancer.

AmyfromMI

Thank you farmerlucy! I hope my turn around time isn't that long but with the special they're running this month I bet they'll be busier than ever.

Interesting about the Scandanavian connection. I hadn't heard that before. My maternal grandmother was 100% Swede and my maternal grandfather was Norwegian. With all the cancer on my mother's side of the famil, there has to be some genetic link somewhere.

vlnrph

Also be aware that, as a fellowship trained geneticist told us, wherever there were sailors, there were "contributions" to the gene pool! This is why ancestry determination can come as a surprise to folks who thought they were pure German, or whatever - those crazy Vikings really got around (I am not necessarily talking about the Minnesota football team)...

One other thing, before you receive results, line up any life, long term care or disability insurance that you think you might ever need because there is no protection under the law against discrimination as there is with health coverage. If you have a mutation, when underwriters request that information, you must answer truthfully or run the risk of being cancelled with no refund of premium once they find out. So, it's better to take out policies prior to obtaining any knowledge of inherited defects.