testing for PSSM 2

[khalswitz]

Ideally, the original researcher should actively have tried to also disprove their own hypothesis (Popper, falsification), the longer one remains unable to conclusively do so, the more likely the theory is to ‘hold water’. Test and keep testing, particularly the anomalies!
Whether Generatio / Equisec etc have rigorously done this is unclear, insufficient published data, but why the veterinary establishment don’t (appear to) falsify the hypothesis also unclear.
Certainly, plenty of UK vets are dissatisfied with existing biopsy tests for PSSM 2, so other tests for possible links surely worthy of rigorous investigation?
Meanwhile, owners are in despair.

I can tell you why the establishment has appeared to be slow to produce studies falsifying the hypothesis: money.

It’s hard to get equine research funded anyway, let alone when the tests you are testing are patented by someone else and there are already two studies showing no significant associations in two populations so there isn’t novelty in showing no association either. The funders don’t see it as valuable.

The the scientists doing anything to look at these variants are doing it as part of much larger studies (like the Minnesota one) with fairly low priority.

It’s frustrating.

 

[shortstuff99]

I see today that Equisec has now patented their "genes" so that no one can test without paying them a fee.

On asking when the peer review was going to happen, he responded with a giant post of what peer review is .

 

[I'm Dun]

I see today that Equisec has now patented their "genes" so that no one can test without paying them a fee.

On asking when the peer review was going to happen, he responded with a giant post of what peer review is .

I had I had no idea you could do this. Surely it raises ethical questions?

 

[khalswitz]

I had I had no idea you could do this. Surely it raises ethical questions?

In the UK/EU at least (I can’t speak about elsewhere), you can’t patent a ‘gene’ or a genetic variant that exists in nature on its own, but you can patent the test ie the method you’ve used to test for it that is classed as an invention. Generally it’s the most efficient and cost effective method (you wouldn’t use eg whole genome sequencing commercially!) so you have cornered the commercial testing market for that variant.

They patented the first P variants back in like 2017 or so? Because patents have to be submitted before a result is made public, you do often see patents appear before a scientific publication (eg McCue and Valberg for the R309H mutation for PSSM1), but good practice in genetics would say that publication(s) should follow on.

I’m currently writing a lecture for undergrads about validation of genetic testing so this has popped up again at a very relevant time for me personally

 

[Fransurrey]

In the UK/EU at least (I can’t speak about elsewhere), you can’t patent a ‘gene’ or a genetic variant that exists in nature on its own, but you can patent the test ie the method you’ve used to test for it that is classed as an invention. Generally it’s the most efficient and cost effective method (you wouldn’t use eg whole genome sequencing commercially!) so you have cornered the commercial testing market for that variant.

They patented the first P variants back in like 2017 or so? Because patents have to be submitted before a result is made public, you do often see patents appear before a scientific publication (eg McCue and Valberg for the R309H mutation for PSSM1), but good practice in genetics would say that publication(s) should follow on.

I’m currently writing a lecture for undergrads about validation of genetic testing so this has popped up again at a very relevant time for me personally

Correct (and it does apply to US and Worldwide). If they have filed for patent, he will now have 1 year to add data to the file, for the PA to review,if they've gone the Paris route (up to 30 months if the PCT route). This only means that he is confident of the actual test, though. It doesn't add or detract from the evidence of the gene's involvement in PSSM2. I haven't read the submission, but Equisec will likely have patented the primer sequence used in the amplification step. There are multiple sequences which can be used, with some working better than others and tags/extra nucleotides can affect binding accuracy and efficacy, so there's nothing to stop anyone else filing with another sequence.

 

[khalswitz]

Correct (and it does apply to US and Worldwide). If they have filed for patent, he will now have 1 year to add data to the file, for the PA to review,if they've gone the Paris route (up to 30 months if the PCT route). This only means that he is confident of the actual test, though. It doesn't add or detract from the evidence of the gene's involvement in PSSM2. I haven't read the submission, but Equisec will likely have patented the primer sequence used in the amplification step. There are multiple sequences which can be used, with some working better than others and tags/extra nucleotides can affect binding accuracy and efficacy, so there's nothing to stop anyone else filing with another sequence.

Yes, it’s so, so important to note that a patent being accepted makes no decision about whether the variant the test identifies is linked to the disease they claim it to be linked to…

 

[Winger23man]

I see today that Equisec has now patented their "genes" so that no one can test without paying them a fee.

On asking when the peer review was going to happen, he responded with a giant post of what peer review is .

I do think ( no I’m not Paul for those who stupidly wrongly guessed I was, I’m not) he’s got this totally wrong he states that a peer review is just a bunch of papers if it was just a bunch of papers why hasn’t he submitted them!!
My other thought is he has cleverly patented his process so to use his testing method you have to buy a licence to use it, as BEVA refuses to accept it due to no peer review and valverg is no longer working no one is looking at mim, I’m not sure what he’s hoping to achieve by doing what he’s doing personally I think he’s boxing clever but playing a dangerous game which could back fire on him

 

[ycbm]

Yes, it’s so, so important to note that a patent being accepted makes no decision about whether the variant the test identifies is linked to the disease they claim it to be linked to…

Just because it's patented doesn't make it of the slightest use.

10 of the Funniest Things Ever Patented | Williams IP Law Firm

We have heard of the crazy patent ideas that make millions but what about the seldom heard patents that seem so strange they're hilarious.

www.txpatentattorney.com

 

[I'm Dun]

In the UK/EU at least (I can’t speak about elsewhere), you can’t patent a ‘gene’ or a genetic variant that exists in nature on its own, but you can patent the test ie the method you’ve used to test for it that is classed as an invention. Generally it’s the most efficient and cost effective method (you wouldn’t use eg whole genome sequencing commercially!) so you have cornered the commercial testing market for that variant.

They patented the first P variants back in like 2017 or so? Because patents have to be submitted before a result is made public, you do often see patents appear before a scientific publication (eg McCue and Valberg for the R309H mutation for PSSM1), but good practice in genetics would say that publication(s) should follow on.

I’m currently writing a lecture for undergrads about validation of genetic testing so this has popped up again at a very relevant time for me personally

Thank you, thats interesting to know.

 

[shortstuff99]

I do think ( no I’m not Paul for those who stupidly wrongly guessed I was, I’m not) he’s got this totally wrong he states that a peer review is just a bunch of papers if it was just a bunch of papers why hasn’t he submitted them!!
My other thought is he has cleverly patented his process so to use his testing method you have to buy a licence to use it, as BEVA refuses to accept it due to no peer review and valverg is no longer working no one is looking at mim, I’m not sure what he’s hoping to achieve by doing what he’s doing personally I think he’s boxing clever but playing a dangerous game which could back fire on him

Unfortunately, for me, it rather gives the impression he is more into making money then he is in helping the disease.

 

[khalswitz]

Just because it's patented doesn't make it of the slightest use.

10 of the Funniest Things Ever Patented | Williams IP Law Firm

We have heard of the crazy patent ideas that make millions but what about the seldom heard patents that seem so strange they're hilarious.

www.txpatentattorney.com

Absolutely - worth noting because a claim was made on FB that the patent being accepted meant it was considered ‘useful’ and therefore the patent approval process conferred some sort of validation. It doesn’t at all.

 

[khalswitz]

I do think ( no I’m not Paul for those who stupidly wrongly guessed I was, I’m not) he’s got this totally wrong he states that a peer review is just a bunch of papers if it was just a bunch of papers why hasn’t he submitted them!!
My other thought is he has cleverly patented his process so to use his testing method you have to buy a licence to use it, as BEVA refuses to accept it due to no peer review and valverg is no longer working no one is looking at mim, I’m not sure what he’s hoping to achieve by doing what he’s doing personally I think he’s boxing clever but playing a dangerous game which could back fire on him

There are research groups looking at exertional myopathies. Molly McCue’s group at Minnesota, Richard Piercy’s at RVC, there has been recent papers from a group in Italy, and on top I am under the impression that Valberg passed her extensive biobank onto a very good geneticist who is likely to continue work in this area too.

It’s just that no one apart from EquiSeq/Generatio calls it ‘MIM’. It’s never been called that in a peer reviewed published paper. You’ll see publications on ‘exertional myopathies’, ‘exertional rhabdomyolysis’, ‘PSSM2’, ‘MFM’, and most recently ‘exercise-associated myopathy syndrome’.

There’s never even been a case report describing ‘MIM’. To the veterinary and scientific world, it doesn’t exist.

 

[Chuffy99]

Has the patent been applied for or granted?
Big difference

 

[Winger23man]

Yes, it’s so, so important to note that a patent being accepted makes no decision about whether the variant the test identifies is linked to the disease they claim it to be linked to…

No that’s very true all it does is force vets back to muscle biopsies which often provide a false negative the hair sample at least provides the answer that the horse carries the gene from birth to death and of course this doesn’t say whether the gene is active or not

Why the two are not joined up is beyond me