Color Genomics | Genetic Test | 30 genes | $249
Comments
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Thanks for keeping this thread active. Just last night DH said "did you (I) think Myriad was a better test than CG." I emphatically said "no". Sadly I think there is a perception that you get "better" results if you pay a lot of money. I hope and pray this company can survive. They are providing an incredible service.
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Marijen,
I'm not qualified to answer your questions. For anyone reading this, I'd recommend getting genetic counseling which provides the risks, benefits, and limitations of genetic testing. I agree that it's less common to test positive, but the ramifications of a positive result may warrant some type of action (awareness, surveillance, etc). A positive result heightens ones risk for other hereditary cancers. There's also treatment considerations. Some mutations make may make radiation treatment particularly risky. etc...For example, mutations in the following genes are associated with these cancers (not that breast cancer is enough!!!):
BRCA: Prostate, pancreatic, and others.
TP53: Soft tissue sarcoma, osteosarcoma (bone cancer), leukemia, brain tumors, adrenocortical carcinoma (adrenal glands), and others.
PTEN: Thyroid, endometrial (uterine lining), and other cancers
MSH2, MLH1, MSH6, PMS2, EPCAM: Colorectal, endometrial, ovarian, renal pelvis, pancreatic, small intestine, liver and biliary tract, stomach, brain
CDH1: Stomach [Hereditary Diffuse Gastric Cancer (HDGC)]
ATM: Lymphoma, Leukemia -
Marijen, I don't think there is any reason to doubt the accuracy of the Color Genomics results. There are some top notch people associated with the company (Mary Claire King, for one) who would not be involved if there were any doubt of the product.
My testing was not done through CG but I wouldn't hesitate, myself, to rely on the results if it had been. In fact, since it can take so long to get a referral for genetic counseling, much less testing, I've recommended that my sister and cousins go through CG.
As to whether or not women are reporting positive test results from CG, please bear in mind that most breast cancers are not the result of a presently known genetic mutation. Given the statistics, it is not surprising that so many women report negatives from CG.
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To add to John's list -
PALB2: Associated with increased risk of breast cancer, pancreatic cancer and (I believe) prostate cancer
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Thank you John and Hopeful. It's good to know you think CG is accurate. I don't have anyone in my family with BC, but you never know what you don't know, right? I had an aunt that died of melanoma. 70% of Occult primary tumors have a TP53 mutation.
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Hi Hopeful:
You said: "There are some top notch people associated with the company (Mary Claire King, for one) who would not be involved if there were any doubt of the product."
It looks like Mary-Claire King, Ph.D., is on the scientific advisory board (SAB) of Color Genomics (CG). Typically, members of an SAB are paid consultants, who provide expert input in their specific area of expertise.
https://getcolor.com/learn/the-science
I cannot speak to the accuracy of the test, but I do not think one can conclude that every aspect of the testing service is necessarily strongly endorsed by Mary-Claire King or that she does not have any concerns about the testing services.
Here is a link to Dr. King's very interesting Lasker Award article (2014), discussing her proposal for broader BRCA1 and BRCA2 screening in the US population. As of that time, she was not a proponent of population-based testing for all mutations in BRCA1 and BRCA2, but only of actionable mutations (loss-of-function mutations with definitive effect on cancer risk). The current whole-scale sequencing approach does not seem to be the best approach in her mind, but it's what we have. She is also critical of reporting on variants of unknown significance, a known down-side, stating that "for population-based screening, these variants should not be reported." Note also her comments about the level of characterization desired for testing genes other than BRCA.
http://jama.jamanetwork.com/article.aspx?articleid...
"Testing for BRCA1 and BRCA2 should focus solely on unambiguously loss-of-function mutations with definitive effect on cancer risk. With modern genomics tools, it is possible to identify all variants in any gene. The challenge is not identification, but interpretation, of making sense of what is identified. Thus far, cancer genetic testing has responded poorly to this challenge, specifically in reporting large numbers of VUS (variants of unknown significance). A VUS can increase confusion and compromise clinical management; for population-based screening, these variants should not be reported. Multi-institution collaborative efforts are under way to evaluate and catalog the clinical significance of all possible variation in BRCA1 and BRCA2. If any VUS ultimately proves causal for breast or ovarian cancer, it should be integrated into future testing. Meanwhile, waiting for a perfect test denies women excellent resources that are now available.
This view reflects that of the American College of Medical Genetics, which recommends that for persons undergoing exome sequencing for any condition, including for conditions other than cancer, laboratories report all unambiguous loss-of-function mutations in BRCA1 and BRCA2 that are identified by chance (ie, incidental findings), because these mutations are medically actionable.
In addition to BRCA1 and BRCA2, other genes involved in DNA repair by homologous recombination harbor mutations that increase risk of breast and ovarian cancer. For some of these genes, such as PALB2, the spectrum and risks associated with loss-of-function mutations are well characterized.
. . . Population-based screening enables mutation carriers to be identified independent of physician referral or family involvement."
Of course, the context here is population-based screening. Perhaps, true population-based screening cannot feasibly include Genetic Counseling for all tested, so added safeguards are needed, such as limiting screening to well characterized genes and actionable mutations only. In the absence of true population-based screening and a "perfect test", there is self-referral to Color Genomics with their provision of access to a Genetic Counselor. It is not clear to me that she would have no concerns about the full scope of the current screening panel on offer, which includes genes for which the risks are not well characterized, or about their reportage of all mutations, including VUS. Genetic counseling can mitigate some but not all of the possible harms. These would be balanced against access to reliable information.
BarredOwl
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I certainly think one would take advantage of genetic counseling when offered. Be sure to describe your ethnic heritage (does CG query that when accepting a sample?)
There is at least one rare mutation not on their panel or Myriad's which could be the culprit if you are of northern/Scandinavian background...
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vlnrph, what is the Scandanavian mutation? And do you know where it can be tested? My results from CG and myriad were negative and my mother's side of the family, which is Scandanavian, is loaded with cancers. Thanks
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Yes me too! What is the mutation please?
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Barred, while I appreciate your expertise, I was simply responding to Marijen's implication that since so few women have reported positive findings ON THIS BOARD that there might be doubt of the accuracy of CG's testing.
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Hi Hopeful:
I understood your answer and the context of your remark.
Mine were intended as supplemental.
BarredOwl
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Thanks for clarifying that, Barred. I'm a bit touchy these days (and I know it); I apologize for reading anything else into your response and taking a rather snippy tone towards you. I truly do value your insights and well thought out contributions.
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Hi Hopeful:
You should not be apologizing to me! Without any transition or explanation, I realize my post from last night has an argumentative tone and that is on me. I am sorry.
BarredOwl
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No worries, Barred - we're good
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Hi:
Good!
Back to the discussion, I agree with John's recommendation about genetic counseling.
A negative test result does not mean that a person is free and clear of any genetic influence on cancer risk. For the purposes of discussion, let's assume that the test has no quality or scope issues, and for Person A, the test yields accurate negative results ("no mutation detected", including no neutral variants or variants of unknown significance). "Detected" is a critical word. Like all current multi-gene panels, the test should find or detect a mutation it is capable of detecting, but the test cannot eliminate all possibility of a genetic component. For example, there is a low probability of an undetected mutation located in areas of the genes that were not tested (e.g., certain non-coding control regions) or of an undetected gene rearrangement. If genetic, there may still be a mutation(s) that confer(s) risk (alone or in combination) in some other cancer-related gene(s) that are not included in the test panel.
I went back through this thread, and it looks like only four people sought testing with Color Genomics (flaviarose, farmerlucy, AmyfromMI, and Juliecc). flaviarose said the test came back positive for Chek2 in her case. The other three that were tested said no mutation was found
. Hopeful pointed out the extremely limited sample size (i.e., n = 4). A sample size of four is too small to be a statistically significant measure, and may either overestimate or underestimate actual frequency. The people in a small sample may not be representative of a population as a whole.
The testing referral process may also affect the frequency observed by Color Genomics. Currently, those with very suspicious personal and/or family history are usually referred for genetic counseling and testing with the providers that service that market. Even though physician referral is evidently imperfect, this may tend to reduce the proportion of mutation carriers among those seeking testing from Color Genomics.
In 2013, I was referred to genetic counseling due to a combination of personal and family history. I chose to proceed with BRCA1 and BRCA2 testing (Myriad; no mutation detected), and insurance covered the test. I was offered further panel testing through Ambry (BreastNext Gene Analysis, 14-gene panel: ATM, BARD1, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, PALB2, RAD50 RAD51C, STK11, and TP53), but I declined. At the time (2013), this panel was considered by some as more of a "research test", contributing to a needed body of knowledge. Among the cons of panel testing for me personally were: I already had a bilateral mastectomy (one possible "action" already medically indicated and completed); the panel included genes which lack consensus practice guidelines for dealing with pathogenic (harmful) mutations; there were no effective screening and/or risk management options for some cancer types associated with some genes; at the time, the frequency of variants of unknown significance (VUS) in some panel genes was higher than that seen with BRCA; there was limited information about the level of risk associated with pathogenic mutations in some genes (e.g., estimated risk is based on a single or few variants, sometimes in a very discrete population that could be different from me); and my family history was seen as less concerning with respect to some cancer types associated with the best characterized genes on the panel. Many of these are moving targets, including family history, and can change over time. For now, I still think I am too much of a worrier to want to know/find out about a mutation that is not actionable, where the degree of risk conferred is unclear, that may predispose me to cancers that cannot be effectively screened, or are not known to be either neutral or pathogenic (VUS).
BarredOwl
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I am the opposite. I need to know as much as they will let me know or I can find out by other means. It doesn't matter to me that there is no actionable treatment at this point in time. The other thing I have read is mutations can happen over time. The cancers change to accommodate themselves! Selfish little b-tards!.
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I've probably mentioned this earlier in the thread but my Onc referred me for additional testing via Myriad MyRisk and later we tried Broca through Unv of Washington. The first was DEnied by insurance, the second also denied and deemed experimental. I do have the shaky family history with the earliest onset being my mother at 27 yrs.So CG saved me potentially thousands of $. I was kind of hoping for a mutation that further testing might reveal DD is mutation free but whatever. As many things in life one answer leads to another question. Thank you all for your expertise!
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Marijen: I definitely do not have a need to know!
Farmerlucy: It seems like different insurers have different criteria. I think having children (which I don't) would have affected my need to know.
BarredOwl
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I don't have children but I do have siblings, none of whom would have considered testing (nor been deemed eligible) if not for my experience.
Despite all the indications for genetic testing, including a recommendation from my extremely conservative genetic counselor that she do so, my sister's running into all sort of run arounds from MDs who don't see the need for it. She may just go the CG route in order to cut through the red tape.
It was also recommended that my cousins consider testing and I know at least one of them (again, despite the input from my gc) took at least 3 months to get approval for an initial appointment - and that appointment was another 5 months away. She, too, may go the CG route, as may her daughter.
I might be somewhat biased due to these experiences but it does make me glad that reputable alternatives such as CG do exist.
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It makes me mad doctors think we should wait until cancer overtakes us before doing anything
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Me, too, Marijen.
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Hi all. While I didn't test through Color Genomics, an oncologist at a local research hospital recommended it as affordable and a good way to get tested without going through counseling.
But I did have a "BreastNext" panel done through Ambrey genetics. It came back with a mutation in the BARD1 gene. The genetic counselor said there was practically no information on my specific variance right now. I'm glad I did the test, but it just didn't help me much. Either way, having a brother with breast cancer makes my siblings' and my risk higher than most people. I find it odd that he was diagnosed at 48 (late stage, unfortunately), and I was diagnosed at 51 (early stage, see below). I only found one person here on BCO with the BARD1 mutation but with a different variance than me. My sister, who is worried since she is 49 with dense breasts and cysts like I had, wasn't recommended genetic testing because it won't make a difference with her screening. From family history alone, her projected risk of breast cancer is around 30%. Mind you, my cancer was missed on mammogram and hidden by cysts on ultrasound for who knows how long.
So I agree with Marijen that doctors favor the "watch and wait" approach. Sometimes it's the only thing you can do.
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@LovingIsLiving
Do you have a "Variant of Unknown Significance" (VUS) in the BARD1 gene? Was it classified as "Likely Benign"?For others who have tested positive, this info below might be useful.
The following is not standardized across testing companies, but here's Invitae's breakdown of "Variant Classification". This is a rough guideline that will change as the industry matures.1. "Pathogenic" - This variant directly contributes to the development of disease. Some pathogenic variants may not be fully penetrant. In the case of recessive or X-linked conditions, a single pathogenic variant may not be sufficient to cause disease on its own. Additional evidence is not expected to alter the classification of this variant.
2. "Likely pathogenic" - This variant is very likely to contribute to the development of disease however, the scientific evidence is currently insufficient to prove this conclusively. Additional evidence is expected to confirm this assertion of pathogenicity, but we cannot fully rule out the possibility that new evidence may demonstrate that this variant has little or no clinical significance.
3. "Uncertain significance" - There is not enough information at this time to support a more definitive classification of this variant.
4. "Likely benign" - This variant is not expected to have a major effect on disease however, the scientific evidence is currently insufficient to prove this conclusively. Additional evidence is expected to confirm this assertion, but we cannot fully rule out the possibility that new evidence may demonstrate that this variant can contribute to disease.
5. "Benign" - This variant does not cause disease.One additional classification is also periodically invoked to capture variable expressivity:
6. "Pathogenic (low penetrance)" - This variant is commonly accepted as a contributing factor of disease, but the penetrance of this particular change is sufficiently low (<25%) to be often seen in individuals without disease. As a result, the predictive value of this information is considered to be low. -
JohnSmith, It was a variant of unknown significance.
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Hi Marijen:
Re having to wait until cancer overtakes us before doing anything, this is one of the reasons why some thought leaders in the field support population-based screening for BRCA1 and BRCA2 pathogenic mutations at least.
BarredOwl
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Hi John:
There is variation in terminology used, so one must look at the specific definitions provided in the personal report from the particular provider, particularly for variants of unknown significance (VUS).
http://theoncologist.alphamedpress.org/content/18/...
"Because different laboratories use different reporting categories, the terminology in the report may vary somewhat."
Not only is there variation in the terminology used, there can be variation in the methodology used to classify/reclassify variants (e.g., "computational algorithms to call variants" per ASCO).
http://www.genomemedicine.com/content/pdf/s13073-0...
". . . reclassification procedures vary among the different gene testing laboratories now offering testing."
See also, Robson (2015), ASCO Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility (emphasis added by me):
http://ascopubs.org/doi/abs/10.1200/JCO.2015.63.0996
"More than 200 genetic tests are currently clinically available to help determine the risk of developing a variety of different cancers. The introduction of massively parallel DNA sequencing has altered the landscape of germline cancer predisposition commercial testing, as well as that of somatic mutation profiling. Laboratories performing these tests face common technical challenges regarding quality metrics for massively parallel DNA panel and whole-genome sequencing and computational classification of variants as benign or pathogenic. The different strategies used by different laboratories to address the technical and interpretative challenges of NGS [Next Generation Sequencing] diagnostics have led to difficulties in interpretation of results by providers and patients, also engendering concerns about needed increased regulation and standardization of procedures of testing laboratories.
Until recently, all laboratories performing constitutional DNA testing for hereditary cancer genes have been regulated under the Center for Medicare and Medicaid Services Clinical Laboratory Improvement Amendment (CLIA) program. However, under CLIA, the nationwide established uniform technical standards vital to the standardized reporting of results of NGS do not exist. Needed technical standards relate to issues including the tissue source of DNA analyzed, the depth of coverage of sequencing, the computational algorithms to call variants as well as insertion and deletion mutations, and the format whereby variants are reported. Interlaboratory variation in these parameters and others may lead different laboratories to report different findings from the same DNA sample. In addition, CLIA requires that laboratories—before releasing test results—establish that non–FDA-regulated tests meet certain performance characteristics regarding analytic validity, but demonstrations of clinical utility and clinical validity are not required. These regulatory aspects may prove particularly problematic when commercial testing is offered for genes whose evidentiary basis as cancer susceptibility genes may be based on limited studies."
While I may point out some shortcomings of panel testing, or some of the downsides of testing, that does not mean that I do not think it should be available. I noted above that genetic counseling can mitigate some, but not all, of the possible harms. This is true for any informed consent process for complex medical interventions, and must be balanced against access to reliable information and medical care.
Many people on this thread have already received genetic counseling and reached an informed decision to seek panel testing. I respect those decisions. I have learned a lot from reading about the experiences and thinking of others.
There will be some readers of this thread who are new, may not understand the very specialized nature of such services, the pros, cons, and limitations of genetic testing, or the value of genetic counseling and its contribution to informed consent or what genetic counseling may entail. To learn more, see for example, "Table 1, Components of informed consent and pretest education" in the ASCO Policy Statement above. It is easier to read Table 1 in the pdf version (link to .pdf in upper right):
Again, the ASCO Policy Statement: http://ascopubs.org/doi/abs/10.1200/JCO.2015.63.0996
Genetic panel testing may be right for many, but it is not for everyone (which is why Genetic Counseling is offered), and is one reason why I shared my thought processes and my personal perspective. The reasons that I personally declined broader panel testing reflect my personal risk tolerance, my specific family history, and the medical advice I received about the value and limitations in my specific case. Reasonable minds could differ on the same facts.
BarredOwl
[UPDATED to provide new, active link to ASCO Policy Statement]
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Yup. Tweaked my post above.
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I just shot down for suggesting this a month or so ago.
Re having to wait until cancer overtakes us before doing anything, this is one of the reasons why some thought leaders in the field support population-based screening forBRCA1 and BRCA2 pathogenic mutations at least.
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I am very grateful for the information posted about this test. Both of my parents have had cancer. My mom's family has cancer dating back generations straight down the line, and my dad was adopted. I tested negative fro BRCA 1 and 2, but have been told my a few MOs that "you have a genetic component, just not one we can test for yet". My mom had testing earlier this year when I had my recurrence. Her doc ordered the full test and she had a variant of unknown significance in the CHEK2 gene. It seems a lot of the VUS for CHEK2 are suspected to be pathogenic, but they need more info. Myriad tested me for that and I came back with the same one. They did not do any other testing though. Since that time, my mom had a new primary BC, almost 25 years after her first diagnosis. Having 3 kids, the info is significant for me. I would not have heard about this test if I did not see it on here. I sent my saliva sample in a little over 3 weeks ago, so I am very anxious to hear the results. I have already had BMX, so there really will not be any actionable items, but since there's a lot of gastric cancer on my mom's side, it may help me to be extra aware of any symptoms. It'll also help to know what, if any mutations I picked up from my dad's side which is a big unknown. And.....I am just a nerd and think it's fascinating, so I will gladly pay $250 to have more info! So....thanks for starting this thread with the info!
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Hi KBee,
I can't imagine that you'd have any difficulty getting genetic testing with your history. Are you receiving treatment at a major cancer medical center? I had Braca and Oncotype testing with 1st degree relative history. You have far more reasons than that. A top research center may help with payment and/or use you as a research subject to understand your quick recurrence. American Cancer Society has funds to assist with travel if cost is an issue. When I wanted to travel from Oregon to Pittsburg to speak with the leading ILC researchers in the US, they were going to cover all hotel and another sub-group provides airfare assistance.
This is an ILC forum, but certainly all can participate. It looks like you had very aggressive tx, yet reoccurred within 2 years. I'm guessing you became tolerant to Estrogen therapy. So what Preventive therapy has been recommended since your Ovary removal?
I just want to make sure you're receiving the best tx, and not in a small to mid-city facility with limited Dr's. An MO who's a generalist in a smaller town is less likely to be up with the latest, greatest therapies. It's too much info to keep up with every type of cancer. I have a MO who specializes in breast cancer, and she's much better than the Generalists I had before.
Good luck to you
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