The Ontario test is different. It is called the Protein Truncation test. It has been used around the world for years and its strength is that when a mutation is identified, you know that it is a real mutation because it causes a shortened protein. The Mryiad test is also good but about 25% of the alterations they find are of unknown significance thereby complicating the clinical care that results. A recent paper comparing a number of methods showed that the PTT and Myriad method picked up 100% of a panel of mutations. No other method did. Reference upon request.
This has nothing to do with socialized medicine dimwit. You in the US of A also have to pay for this test (and all of your other medical care). Also, Ontario and a few other provinces are still offering the test for free. Sorry to disappoint you.
If a person (your wife) has a blood relative who lives in Ontario that could benefit from the results of the test, then yes a blood sample could be sent and tested under the Ontario system.
I am a genetic counsellor who have been working with these families and this test for years. The blanket statement that the results don't really help is a bit reductive.
Some ar ehelped very much by their results. It may lead to different screening than the person might have had previously or draw attention to cancers they had no idea they were at risk for.
Also, the only way a person in a family with many cases of breast and ovarian cancer can find out they are at no increased risk is if a mutation is identified in the family and they are found not to carry that altered versin of the gene.
Some are actually releaved that they know the cause of the family's legacy of cancer.
many want to know the informatin for their children's benefit.
I read Z magazine but haven't seen the article you speak of. Will read and respond.
This reporting of "unclassified variants" does indeed complicate the families experience. Your statement that they know there is a mutation and they have to be careful is untrue. The nature of the "unclassified variant" is exactly that you don't know if they carry a real mutation or not. that is why they are unclassified. In Ontario we do not report unclassified variants because they are not identified by our methodology. Myriad have at least 25% of their reports as such (their number).
In fact the patents are extremely broad in application and forbid any other institution (hospital, lab, etc) from conducting the test for diagnostic purposes in the clinical setting.
No, the patents are not broad. In fact, it is the specificity of the patents that make them so enforcable. The USPTO consulted with Myriad a few years back when the rules and requirements for genetic patents were redone. The Myriad patents were seen as good examples of this type of patent. The problem that other institutions have is, there really aren't many ways to sequence DNA. Nature worked out a pretty reliable method, and Myriad has figured out how to mimic the process in the lab. This process is patented. If someone else figures out a new way, they can certainly patent the method- and probably get a nobel prize in the process.
You are clearly not well versed in this area. my guess would be a lawyer and not a biologist/geneticist because you clearly have no knowledge of basic biology. I am a genetic counsellor who has been dealing with this test for nearly a decade. There are a number of ways to determine if there is a mutation. myriad in no way created the technique to "sequence" DNA. "Myriad has figured out a way to mimic this in the lab is complete nonsense." Sequencing predated Myriad by at least a decade. They use commercially available machines that fresh students can operate. The issue is that no one else, if the patents are followed closely, can do a diagnostic test on BRCA1 or BRCA2. Once again you are stating complete untruths. It is not the process that is the problematic issue. the patent does not allow any other North American centre to use the gene sequence in a clinical setting. in other words, patients cannot get their DNA tested other than through Myriad. Ontario has been asked to stop performing the Protein Truncation Method, they do not use Direct complete sequencing like Myriad. Diagnostic labs are not interested in Myriad's big money sequencing process anyway. Why do then think there is concern if the patent only covered aprocess no one uses. Do not mislead people.
Your point about the Mormon records is completely irrelevant. There are many research groups that understand what is and what isn't a mutation.
Wrong. It is very relevent. First, the location of the BRACA genes were found through geneaological reserach. Second, if you sequence your mother's BRACA genes, you will have no idea what you have other than a long string (20,000) of letters.
This is a direct mistruth. the majority of the work undertaken to find the gene happenend at a number of research centres around the world. They all pointed to the specific area on the specific chromosome where the gene is. They include Montreal, where Canadian families selflessly contributed their blood samples to research to help find the gene. This research was paid for by "PUBLIC" money. Tax money, the peoples money, your and my money. Myriad stepped in when the area had been reduced (the hardest part of the discovery process) and power sequenced to identify the actual gene. A solution that is very lowbrow in terms of "invention" which provides another avenue to fight the patent. By the way, cataloging the mutations is an accounting procedure and does nothing to determine their effect. This is typically carried out by research centres by genetic epidemiologists and molecular biologists who correlate the family histories and putative mutations together.
Myriad has done significant research to catalog and understand the nearly 2,500 mutations and variants of the BRACA genes. Geneaology records helped Myriad determine what mutations were bad, and the degree thereof, before they went commercial with the test. Current research (done by many places outside of Myriad, BTW) adds to the information....the Myriad patent, if enforced completely, would only allow their test to be used.
There really isn't any other way to sequence the gene. And Myriad has recently introduced an enhancement to the test that handles deletions and large rearrangements. Many places complained that this was a big deal, but it has been demonstrated that these sorts of mutations are very rare.
Please do your research before stating this information. "There really isn't any other way to sequence the gene...other than Myriads test does not pass the laugh test.
Once again you are completely wrong.
They have patented the clinical use of these genes, not the technique. If you test for mutations in these genes, using Myriad's technique or your own, you are in violation of this patent. I am deeply involved in both the research and clinical setting for testing these genes and I know.
"The larger question is, what good does it do for other institutions to have access to this gene? They don't know enough about the variants and mutations to do anything with it anyway."
You are grossly misinformed. The information about the clinical significance of any alteration in thesed genes is arrived at by the research and clinical community almost exclusively. Myriad is a large scale sequencing facility that does little research. It is not their mandate.
By the way, their test is not the gold standard they say it is. by its vary nature (sequencing) it misses large deletions and, maybe worst of all, identifies a number of alterations for which they have no clincial understanding. This massively complicates the clinical handling of these families and often causes more stress for the families that need the help the most.
Unless you are a patent lawyer, don't expect to understnd the patent by simply reading it. By the way, they have more than one patent with resepect to these genes.
In fact the patents are extremely broad in application and forbid any other institution (hospital, lab, etc) from conducting the test for diagnostic purposes in the clinical setting.
It is not that they have patented a technique to find mutations in these genes (like a particular testing protocol), but instead patented the use of any diagnostic test to find mutations in these genes because they would be comparing the mutatnt sequence against the patented sequence they have.
Your point about the Mormon records is completely irrelevant. There are many research groups that understand what is and what isn't a mutation.
Myriad also would not have found the gene if other, publiclly funded, research had not been completed before they threw money at the situation. The most difficult issue was to find out what portion of what chromosome the gene was on. They did not do this. Running the sequencers day and night to pinpoint it only requires money.
You are corect, performing a diagnostic test for the 2 genes involved (BRCA1, BRCA2) is not complicated and can be performed via a number of procedures. However, the Myriad patent, if enforced completely, would only allow their test to be used. A test that misses some mutations that would be picked up by other types of analyses. See large deletions as stated in the European attack on the patent.
We all have the gene. Actually we all recieved one copy from mom and one from dad at the moment of conception. Therefore all of our cells have 2 copies of the gene (BRCA1 for example). this gene does something beneficial for us when it works properly. however, it may become alter and not work properly. It will then be called a mutated gene. The patent that Myriad has resulted because they "discovered" the gene. thjeir patent allows only them to look for "mutations" in the gene. This is what is called genetic testing. For example if you have a lot of breast and ovarian cancer in your family, you could be tested to see if you carried the mutated copy of BRCA1. if you did, then your risk for cancer would be greater than average. Since Myriad wants all of the worlds tests to be supplied by them. at great cost, many individuals will not be able to access this discovery for their benefit.
The test is about 3800 Canadian dollars.
Ontario is still offering the test in direct opposition to the cease and desist letters from Myriad genetics.
This patent is very wide ranging and does not allow others to perform any diagnostic test with it.
Actually we all have the gene, but those who have an altered version that does not work properly (mutated) have an increased risk for breast and ovarian cancer.
The issue is not with the cost of the test but the fact that Canadian laboratories have been testing for these genes for a number of years and are no longer allowed to do so by the patent. They leave themselves open for large lawsuits.
this will be a litmus test to see how patent law will hold up to the higher levels of the legal system (Supreme court etc). there has also been much discussion of making new applications for gene patents more difficult so that the gene discoverer and society in general can both benefit.
gordini
Slashdot Mirror
The Ontario test is different. It is called the Protein Truncation test. It has been used around the world for years and its strength is that when a mutation is identified, you know that it is a real mutation because it causes a shortened protein. The Mryiad test is also good but about 25% of the alterations they find are of unknown significance thereby complicating the clinical care that results. A recent paper comparing a number of methods showed that the PTT and Myriad method picked up 100% of a panel of mutations. No other method did. Reference upon request.
This has nothing to do with socialized medicine dimwit. You in the US of A also have to pay for this test (and all of your other medical care). Also, Ontario and a few other provinces are still offering the test for free. Sorry to disappoint you.
If a person (your wife) has a blood relative who lives in Ontario that could benefit from the results of the test, then yes a blood sample could be sent and tested under the Ontario system.
I am a genetic counsellor who have been working with these families and this test for years. The blanket statement that the results don't really help is a bit reductive. Some ar ehelped very much by their results. It may lead to different screening than the person might have had previously or draw attention to cancers they had no idea they were at risk for. Also, the only way a person in a family with many cases of breast and ovarian cancer can find out they are at no increased risk is if a mutation is identified in the family and they are found not to carry that altered versin of the gene. Some are actually releaved that they know the cause of the family's legacy of cancer. many want to know the informatin for their children's benefit. I read Z magazine but haven't seen the article you speak of. Will read and respond.
This reporting of "unclassified variants" does indeed complicate the families experience. Your statement that they know there is a mutation and they have to be careful is untrue. The nature of the "unclassified variant" is exactly that you don't know if they carry a real mutation or not. that is why they are unclassified. In Ontario we do not report unclassified variants because they are not identified by our methodology. Myriad have at least 25% of their reports as such (their number).
In fact the patents are extremely broad in application and forbid any other institution (hospital, lab, etc) from conducting the test for diagnostic purposes in the clinical setting. No, the patents are not broad. In fact, it is the specificity of the patents that make them so enforcable. The USPTO consulted with Myriad a few years back when the rules and requirements for genetic patents were redone. The Myriad patents were seen as good examples of this type of patent. The problem that other institutions have is, there really aren't many ways to sequence DNA. Nature worked out a pretty reliable method, and Myriad has figured out how to mimic the process in the lab. This process is patented. If someone else figures out a new way, they can certainly patent the method- and probably get a nobel prize in the process. You are clearly not well versed in this area. my guess would be a lawyer and not a biologist/geneticist because you clearly have no knowledge of basic biology. I am a genetic counsellor who has been dealing with this test for nearly a decade. There are a number of ways to determine if there is a mutation. myriad in no way created the technique to "sequence" DNA. "Myriad has figured out a way to mimic this in the lab is complete nonsense." Sequencing predated Myriad by at least a decade. They use commercially available machines that fresh students can operate. The issue is that no one else, if the patents are followed closely, can do a diagnostic test on BRCA1 or BRCA2. Once again you are stating complete untruths. It is not the process that is the problematic issue. the patent does not allow any other North American centre to use the gene sequence in a clinical setting. in other words, patients cannot get their DNA tested other than through Myriad. Ontario has been asked to stop performing the Protein Truncation Method, they do not use Direct complete sequencing like Myriad. Diagnostic labs are not interested in Myriad's big money sequencing process anyway. Why do then think there is concern if the patent only covered aprocess no one uses. Do not mislead people. Your point about the Mormon records is completely irrelevant. There are many research groups that understand what is and what isn't a mutation. Wrong. It is very relevent. First, the location of the BRACA genes were found through geneaological reserach. Second, if you sequence your mother's BRACA genes, you will have no idea what you have other than a long string (20,000) of letters. This is a direct mistruth. the majority of the work undertaken to find the gene happenend at a number of research centres around the world. They all pointed to the specific area on the specific chromosome where the gene is. They include Montreal, where Canadian families selflessly contributed their blood samples to research to help find the gene. This research was paid for by "PUBLIC" money. Tax money, the peoples money, your and my money. Myriad stepped in when the area had been reduced (the hardest part of the discovery process) and power sequenced to identify the actual gene. A solution that is very lowbrow in terms of "invention" which provides another avenue to fight the patent. By the way, cataloging the mutations is an accounting procedure and does nothing to determine their effect. This is typically carried out by research centres by genetic epidemiologists and molecular biologists who correlate the family histories and putative mutations together. Myriad has done significant research to catalog and understand the nearly 2,500 mutations and variants of the BRACA genes. Geneaology records helped Myriad determine what mutations were bad, and the degree thereof, before they went commercial with the test. Current research (done by many places outside of Myriad, BTW) adds to the information. ...the Myriad patent, if enforced completely, would only allow their test to be used.
There really isn't any other way to sequence the gene. And Myriad has recently introduced an enhancement to the test that handles deletions and large rearrangements. Many places complained that this was a big deal, but it has been demonstrated that these sorts of mutations are very rare.
Please do your research before stating this information. "There really isn't any other way to sequence the gene...other than Myriads test does not pass the laugh test.
Once again you are completely wrong. They have patented the clinical use of these genes, not the technique. If you test for mutations in these genes, using Myriad's technique or your own, you are in violation of this patent. I am deeply involved in both the research and clinical setting for testing these genes and I know. "The larger question is, what good does it do for other institutions to have access to this gene? They don't know enough about the variants and mutations to do anything with it anyway." You are grossly misinformed. The information about the clinical significance of any alteration in thesed genes is arrived at by the research and clinical community almost exclusively. Myriad is a large scale sequencing facility that does little research. It is not their mandate. By the way, their test is not the gold standard they say it is. by its vary nature (sequencing) it misses large deletions and, maybe worst of all, identifies a number of alterations for which they have no clincial understanding. This massively complicates the clinical handling of these families and often causes more stress for the families that need the help the most.
Unless you are a patent lawyer, don't expect to understnd the patent by simply reading it. By the way, they have more than one patent with resepect to these genes.
In fact the patents are extremely broad in application and forbid any other institution (hospital, lab, etc) from conducting the test for diagnostic purposes in the clinical setting.
It is not that they have patented a technique to find mutations in these genes (like a particular testing protocol), but instead patented the use of any diagnostic test to find mutations in these genes because they would be comparing the mutatnt sequence against the patented sequence they have.
Your point about the Mormon records is completely irrelevant. There are many research groups that understand what is and what isn't a mutation.
Myriad also would not have found the gene if other, publiclly funded, research had not been completed before they threw money at the situation. The most difficult issue was to find out what portion of what chromosome the gene was on. They did not do this. Running the sequencers day and night to pinpoint it only requires money.
You are corect, performing a diagnostic test for the 2 genes involved (BRCA1, BRCA2) is not complicated and can be performed via a number of procedures. However, the Myriad patent, if enforced completely, would only allow their test to be used. A test that misses some mutations that would be picked up by other types of analyses. See large deletions as stated in the European attack on the patent.
We all have the gene. Actually we all recieved one copy from mom and one from dad at the moment of conception. Therefore all of our cells have 2 copies of the gene (BRCA1 for example). this gene does something beneficial for us when it works properly. however, it may become alter and not work properly. It will then be called a mutated gene. The patent that Myriad has resulted because they "discovered" the gene. thjeir patent allows only them to look for "mutations" in the gene. This is what is called genetic testing. For example if you have a lot of breast and ovarian cancer in your family, you could be tested to see if you carried the mutated copy of BRCA1. if you did, then your risk for cancer would be greater than average. Since Myriad wants all of the worlds tests to be supplied by them. at great cost, many individuals will not be able to access this discovery for their benefit.
The test is about 3800 Canadian dollars. Ontario is still offering the test in direct opposition to the cease and desist letters from Myriad genetics. This patent is very wide ranging and does not allow others to perform any diagnostic test with it. Actually we all have the gene, but those who have an altered version that does not work properly (mutated) have an increased risk for breast and ovarian cancer. The issue is not with the cost of the test but the fact that Canadian laboratories have been testing for these genes for a number of years and are no longer allowed to do so by the patent. They leave themselves open for large lawsuits. this will be a litmus test to see how patent law will hold up to the higher levels of the legal system (Supreme court etc). there has also been much discussion of making new applications for gene patents more difficult so that the gene discoverer and society in general can both benefit. gordini