testing for PSSM 2

paddy555

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the text below came up on one of the PSSM FB groups so posting it in case it interests anyone. (I expect most will have seen it already)

(note for anyone new to this it does not relate to the PSSM 1 test which is not problematical)


From the text
I am sharing this in the interest of dispelling some dangerous misinformation that is floating around the equine community at the moment. Please feel free to share as well. It is critical for people to be able to understand what the facts are around this in order to make informed decisions.
As an advocate for the horse, I am always looking for ways that I can support the community towards bettering the lives of these magnificent animals. As an equine professional, it is my duty to keep up with the ever evolving science surrounding the animals we are so lucky to be guardians of.
When I was suggested to look into hair testing for PSSM2 a year ago, I jumped at the opportunity to learn about another way to ensure our horses health and well being. The more I researched, the more data I read, the more I immersed myself in the groups to learn about how people were using these tests - the more concerned I became.
As lovely as it sounds to have a simple test to tell us if our horse has this disease, the science simply doesn’t support that the genetics correlate to the disease or cause the disease - in the same way that a bay horse that has gone blind will test E_A_ if you test for his extension and agouti status, that doesn’t mean that those genes correlate to the blindness. That horse may have a genetic issue that has caused the blindness, and it may even be related to another color gene but that doesn’t mean the genes you tested for when you tested the agouti status caused the disorder in any way. Correlation does not equal causation.
This is one of the hardest things for people to understand, and perhaps why this test has gained such an unusual following despite being dismissed by every major equine medical institution (including ones who are well known for endorsing and utilizing controversial and experimental genetic tests). Your horse may have PSSM2 and a muscle biopsy may have confirmed it, but the genes being present doesn’t mean that they are what caused the disease. The data shows clearly that there isn’t enough correlation between the presence/absence of genes and the presence/absence of the disease to show any relation whatsoever.
Did you know the test failed to identify 57% of symptomatic horses confirmed to have PSSM2 through muscle biopsy? This means that a horse who tested positive through the gold standard for identifying the disease, didn’t have any of the genetic variants this test uses to “identify” the disease according to this test. That statistic alone should be enough to discredit the test as an unreliable way to identify the disease - especially when looking to utilize the test for prepurchase examination or when considering a horse for breeding purposes. Actually, it is enough to discredit the test among experts in the field who can actually understand the science, as every single veterinary professional and genetic specialist I have spoken to on the subject, in various institutions across the United States, has dismissed the test as unreliable and frankly dangerous in it’s misleading nature.
My primary problem with this test is the idea that it should be a part of a pre purchase exam or a breeding assessment - when it is completely unreliable in both being unable to identify horses confirmed to have PSSM2 as well as “identifying” horses who are completely healthy and will never exhibit and single symptom as being “positive”. Basing the purchase of a horse on the negative result of a test which has shown to falsely clear 57% of positive horses is just wildly unfair to everyone involved. To the buyer who expects to never deal with the disease, as well as (and more importantly) to the horse who has been “cleared” and thus won’t be properly tested further down the road if they show symptoms. Equally horrifying is the idea of basing the inclusion or exclusion of a horse in a breeding program based on the results of this test. In breeds in which PSSM2 is present (which is actually documented to only be a limited number of breeds), horse who actually do have PSSM2 could be incorrectly identified as a negative carrier and thus included in the breeding program despite experiencing symptoms, meanwhile horses who do not have PSSM2 and will never experience a single symptom could be culled from the gene pool for having one of these genes. Everyone promoting this test claims they are just looking out for horse welfare - what about the welfare of these horses? What about the owners? The breeders?How is it ethical in any way to be promoting a test that is so unreliable?
If this was a human test it would never be allowed to make it to the public, as it would cause dangerous misinformation and potential for misdiagnosis - however the equine world is vastly under regulated and so this is allowed to be promoted. Even with vets around the world dismissing it as scientifically unsound, it being proven over and over again to be scientifically unsound, people who are unable to understand the science of it are falling into the trap of self-serving biases. It baffles me that despite the fact that there is not a single peer reviewed study which supports this test, meanwhile there are several which completely debunk it - people still are pushing hard for this test. I thought that anyone who did independent research from a neutral perspective (as I did, even testing some of my horses - who came back negative by the way, for anyone who wants to say I am trying to discredit the test due to having “positive” horses) would be able to see the fallacies with this, but unfortunately in the age of anti-science and dangerous misinformation, people are being easily mislead. I am sharing my thoughts on this after a year of deep dives and reaching out to many many experts, and am including links to various sources for those of you who wish to learn more.
To anyone who is being told this is a necessary part of the pre-purchase examination, save your money. If you are concerned, speak with your vet. To anyone with a breeding program being told this is a necessary test to determine whether a horse is fit to breed or not, please consider the potential danger this misinformation could pose to your program if the test is wrong in either direction. This test has not stood up to the rigorous scrutiny needed to ensure accuracy and reliability. Do your research, speak with experts, if you have a horse who concerns you, take the necessary steps to identify and diagnose or clear that horse through scientifically founded methods.
Pictured: slides from a recent talk given by Dr Rebecca Bellone, the leading geneticist at UC DAVIS with 30 years experience in diagnostic markers across species.
 

shortstuff99

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Oof bet that went down in those groups. What makes me uncomfortable with the whole PSSM2 genetic testing is that he pushes it so hard to make lots of money on tenuous links. His supporters (and him) shout down any detractors of the science as being either out to get them or terrible at science (even though theirs are published and his is not). I'm not even against genetic testing it could have its uses and if they can definitely show links between genes and disease expression then I'm all for it!

But there are a lot of owners that attribute everything to PSSM once testing "positive" and ignore other more common solutions to lameness and other issues.
 

SEL

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Which PSSM group was that in Paddy? Didn't come up on my FB feed.

I've been resoundingly shut down every time I've pushed Paul on these tests. I looked up the human equivalents for the genes he identified for two of the variants and in humans the definitive test is a biopsy. When I asked him he said a biopsy wouldn't show anything if the horse wasn't symptomatic - but people who were sending hair in were doing it for symptomatic horses so lots of opportunities to match symptoms to genetic tests to biopsy results. He went silent.

I did hear on the PSSM grapevine that he'd made a presentation on K1 but not been able to track anything down more concrete
 

shortstuff99

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Which PSSM group was that in Paddy? Didn't come up on my FB feed.

I've been resoundingly shut down every time I've pushed Paul on these tests. I looked up the human equivalents for the genes he identified for two of the variants and in humans the definitive test is a biopsy. When I asked him he said a biopsy wouldn't show anything if the horse wasn't symptomatic - but people who were sending hair in were doing it for symptomatic horses so lots of opportunities to match symptoms to genetic tests to biopsy results. He went silent.

I did hear on the PSSM grapevine that he'd made a presentation on K1 but not been able to track anything down more concrete
Did he also just reply to you in giant chunks of his manuscripts that basically say nothing?
 

SEL

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PSSM forum, poster Tami Murante 2 days ago and article was a link iro Tara Davies.

Sorry I tried to post a link but didn't work only to the PSSM group
Thanks - found it. Tara Davies I know of through the BTMM pages. I'll try a pull that research article she quotes.

I know loads of people who have tested almost as last resort and feel they deserve better science. Some of those horses definitely have symptoms of a myopathy but not all improve through diet changes so that leaves owners wondering what next.
 

Sossigpoker

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I have spoken to an orthopaedic specialist about PSSM who very firmly told me that if you presented him with 100 "PSSM horses" , 99 would have a musculoskeletal lameness (arthritis, tendons, fractures etc) and maybe 1 one of them would have a lameness that would be difficult to diagnose. The condition isn't common , nowhere near as common as these Facebook groups suggest - I got kicked out of one for pointing out that I've seen nothing but mainly hind limb lame horses in there and why for the love of god will they not engage a lameness specialist.

Money. That's why. The average horse owner on Facebook either has no money or refuses to spend it on a vet. Pretending that the horse has some (rare) disease and riding a lame horse is a lot more convenient and cheaper after all.
 

planete

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I have spoken to an orthopaedic specialist about PSSM who very firmly told me that if you presented him with 100 "PSSM horses" , 99 would have a musculoskeletal lameness (arthritis, tendons, fractures etc) and maybe 1 one of them would have a lameness that would be difficult to diagnose. The condition isn't common , nowhere near as common as these Facebook groups suggest - I got kicked out of one for pointing out that I've seen nothing but mainly hind limb lame horses in there and why for the love of god will they not engage a lameness specialist.

Money. That's why. The average horse owner on Facebook either has no money or refuses to spend it on a vet. Pretending that the horse has some (rare) disease and riding a lame horse is a lot more convenient and cheaper after all.

That is a bit of an unfair generalisation. My pony spent two days at Donnington Equine hospital being tested for every possible physical problem which might account for his lethargy, near collapse from very mild evercise and wobbler like symptoms. The only significant finding was raised muscle enzymes after exercise. I spent the money making sure he had no other underlying condition, I had him tested for PSSM1 (negative) but not PSSM2. He is managed for a muscle myopathy and able to do light work without discomfort. I do not pretend he has a rare disease, his remarkable recovery when following Dr. Valberg's management advice is evidence enough for me. There is a lot of social media hype about it, yes, but concluding it is a rare disease without evidence is just as misleading as is attributing all problems to it.
 

SEL

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I have spoken to an orthopaedic specialist about PSSM who very firmly told me that if you presented him with 100 "PSSM horses" , 99 would have a musculoskeletal lameness (arthritis, tendons, fractures etc) and maybe 1 one of them would have a lameness that would be difficult to diagnose. The condition isn't common , nowhere near as common as these Facebook groups suggest - I got kicked out of one for pointing out that I've seen nothing but mainly hind limb lame horses in there and why for the love of god will they not engage a lameness specialist.

Money. That's why. The average horse owner on Facebook either has no money or refuses to spend it on a vet. Pretending that the horse has some (rare) disease and riding a lame horse is a lot more convenient and cheaper after all.
That's not my experience. The horses I know who have been tested have either exhausted vet investigations (the insurance money has run out) or have had blood tests indicating a myopathy but turned out to be negative for type 1.

Not all of them have been positive for Equiseq's variants either. Perhaps a muscle biopsy would give them an answer but if you've got a horse that is unsound, vets can't find anything conclusive and you're fed up of looking then I get why they give up. It's why I think the genetic testing needs to be better regulated. People just want answers.
 

shortstuff99

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The issues with the genetic test (and other genetic tests for diseases) is it always assumes a very black and white if you have it you have the disease thinking. Genetics are much more complicated then that and having a gene doesn't necessarily mean you will have active disease, they often need another factor to activate.
 

Dexter

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None of this is news. It came up fairly early on. I'm sure it was 75% had the gene and 25% didn't. Its not reliable. I'm not sure it would stop me testing if I'd exhausted everything else though. I wish there was a more reliable test, but I think that's a long way off. We don't know enough about it yet and sadly I don't think we are even remotely close to reliable treatment either.
 

sbloom

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I would need to look into it more but it's why I'm suspicious of the testing for KS and ECVM too, they might be entirely different but seeing as both conditions seem to be reversible at best it seems to be a tendency rather than direct causality. It stops us doing the right thing to truly address what's going on with our horse's locomotion.
 

ycbm

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I would need to look into it more but it's why I'm suspicious of the testing for KS and ECVM too, they might be entirely different but seeing as both conditions seem to be reversible at best it seems to be a tendency rather than direct causality. It stops us doing the right thing to truly address what's going on with our horse's locomotion.


At least those can be seen on x ray and the testing issues are only related to trying to breed it out.
 

ycbm

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None of this is news. It came up fairly early on. I'm sure it was 75% had the gene and 25% didn't. Its not reliable. I'm not sure it would stop me testing if I'd exhausted everything else though. I wish there was a more reliable test, but I think that's a long way off. We don't know enough about it yet and sadly I don't think we are even remotely close to reliable treatment either.

A 57% failure rate on horses positive by biopsy is news to me!
.
 

Sossigpoker

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That is a bit of an unfair generalisation. My pony spent two days at Donnington Equine hospital being tested for every possible physical problem which might account for his lethargy, near collapse from very mild evercise and wobbler like symptoms. The only significant finding was raised muscle enzymes after exercise. I spent the money making sure he had no other underlying condition, I had him tested for PSSM1 (negative) but not PSSM2. He is managed for a muscle myopathy and able to do light work without discomfort. I do not pretend he has a rare disease, his remarkable recovery when following Dr. Valberg's management advice is evidence enough for me. There is a lot of social media hype about it, yes, but concluding it is a rare disease without evidence is just as misleading as is attributing all problems to it.
You've done the right thing and investigated rather than just sent some hair to Germany. But most people in those Facebook groups won't do that. I only saw hopping lame horses in those groups and I'd bet money on them having a musculoskeletal lameness issue. Your horse sounds like a completely different case. If you believed those idiots in the Facebook group ,.every lazy and tight horse owner with a lame horse would have PSSM. When in fact they're lame.
 

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Clare McLeod the nutritionist put up what I thought was a sane and succinct post on PSSM yesterday on her FB page (she does actually have a horse with it) only for Paul S to wade in trying to blind people with science.

I get why some owners can be emotive about the subject - broken horses are no fun - but the hostile responses to what was a pretty bland post are unnecessary. I still think if Equiseq can't explain these tests and their implications simply then you have to wonder...
 

paddy555

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Clare McLeod the nutritionist put up what I thought was a sane and succinct post on PSSM yesterday on her FB page (she does actually have a horse with it) only for Paul S to wade in trying to blind people with science.

I get why some owners can be emotive about the subject - broken horses are no fun - but the hostile responses to what was a pretty bland post are unnecessary. I still think if Equiseq can't explain these tests and their implications simply then you have to wonder...

Clare's FB stuff comes up on my FB so I saw that, perfectly sane and sensible. I was't aware Paul S had waded in. Will try and find that. Thanks for telling us
 

shortstuff99

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Clare McLeod the nutritionist put up what I thought was a sane and succinct post on PSSM yesterday on her FB page (she does actually have a horse with it) only for Paul S to wade in trying to blind people with science.

I get why some owners can be emotive about the subject - broken horses are no fun - but the hostile responses to what was a pretty bland post are unnecessary. I still think if Equiseq can't explain these tests and their implications simply then you have to wonder...
It's very frustrating because the science could be interesting, but they get so militant about it that they blind themselves to everything, including the limitations of the test.
 

shortstuff99

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shortstuff99

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So is hair test just unreliable? Or does it give false negatives? Or can you get false positives too?
The hair test is reliable, in as much it will tell you the genetic sequences that are there. The issue is no one has yet proved that the presence of those genes will lead to disease expression.
 
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