PSSM Genetic Testing Company, Is it Legit?

[PeteyPie]

I was reading the following article about a company which is developing genetic testing and I am a little confused. Hasn’t there been a genetic test available for PSSM at some vet schools? What is the difference between what is already out there and this company? What opinions do you have about this?

I’m curious because I was contacted about one of my horses and I want to know who I’m dealing with before I offer a blood sample. You know, Strangers on the Internet. At the same time, if they are a good company or doing something worthwhile I am happy to participate in their research. I guess my main concern is a worry that they are developing a business model around something which is already available through public veterinary institutions and capitalizing unfairly.

Can you scientific people please comment?

https://silicon66.com/si66-equiseq-gene-test-can-eliminate-crippling-disease-horses/

[csaper58]

I am not opening that link.

I had my horse tested at the University of Minnesota.

http://www.equine.umn.edu/research/e…yopathy-type-1

ETA… @PeteyPie My Vet Sent Blood over- night to be tested. We did not do the muscle biopsy.

Glad to know the link is legit.

[PeteyPie]

I think the link is fine. I googled the company name and that article came up; it’s a blog called Silicon66 which describes itself as follows:

Silicon66 covers technology news and the entrepreneurial communities in the ‘Silicon66’ region, including Oklahoma, the Texas panhandle, New Mexico and Arizona.

But there are other references to the company, which is called Equi Seq (without the space between the two words). I am avoiding naming it and spelling it properly because I don’t want a google presence (or whatever you would call it). At the same time, I am making it sound too mysterious or even sinister by being oblique which is not my intention because I think it is probably a biotech company with a good idea. I was just hoping to get input from Cothers and at the same time hoping to avoid or delay alerting the company that I am inquiring about them (which may be unnecessary) until I get feedback here.

[ShotenStar]

Genetic testing for PSSM type 1 has been commercially available for awhile. I used Animal Genetics (http://www.animalgenetics.us/Equine/Genetic_Disease/Index.asp) when I tested one of mine. A quick review of some online sources suggests there is still no validated, reliable genetic test for PSSM Type 2; that is diagnosed via muscle biopsy.

Star

[bugsynskeeter]

There is a lot of controversy about this company right now.

[PeteyPie]

Links? I’ve been googling and just find general stuff like the link I posted.

[knic13]

https://cvm.msu.edu/research/faculty-research/valberg-laboratory

Dr. Valbergs site includes a statement on the issues in utilizing a test that hasn’t been scientifically verified.

Beyond that, there have been a lot of complaints on the PSSM Facebook forum from people who have paid for tests and gone months without any communication from the company. The people from equiseq will occasionally post vague updates about how they are waiting for their new lab to develop the lab analysis. I find it extremely unethical that they are continuing to advertise and charge a fairly significant sum of money for a test that is still under development, not to mention the issues with not being able to verify the accuracy of the test when you do get results.

[PeteyPie]

Thanks for that. So to get this straight in my mind, there is a genetic test which you can use with a hair sample or muscle biopsy (through public universities like UC Davis and the University of Minnesota. What is the difference? What is Eqs. selling that is different?

Also, has anyone else received an email from them requesting a blood sample from a particular horse?

[SCI]

I was just contacted by them yesterday (see below):

I am writing as a member of the EquiSeq science team. EquiSeq is an equine genomics company that is developing new genetic tests for horses. We think that providing the tools for veterinarians to test for genetic diseases (including those that lead to “tying up” in Thoroughbreds, Arabians and Quarter Horses) can lead to better management of affected horses and will allow breeders to eliminate these problems from future generations.

We are in the early stages of developing tests to identify genetic variation that correlates with performance traits, primarily in Thoroughbreds and Arabians.

Your horse XXXXXXX is of considerable interest to us. We found him through the Bloodline Brag part of the Retired Racehorse Project website. We are interested in XXXXXX because of particular horses in his pedigree. These bloodline relatives, which include Raise A Native and Bold Ruler, generally have documented superior performance.

We would like to obtain a blood sample as part of our research. If you are willing to be a part of this project, please send us your postal mailing address. We will send a tube and mailer with a consent form, health record form, and instructions.

Thank you very much for considering this.

** As this will not cost me anything and could be beneficial to horses in the future I told them I’d be happy to provide assistance.**

[knic13]

There is a hair test for PSSM1, developed by Valbergs lab while she was at University of Minnesota. Also offered as part of aqha 5 panel through UC Davis. Also can be done through Animal Genetics.

PSSM1 can also be diagnosed via muscle biopsy at Michigan State, same researcher as above. She simply changed universities.

As the muscle myopathy research progressed, they found that horses had similar symptoms but not the same muscle morphology and ultimately genetic disorder as PSSM1 horses (irregular glycogen storage). All horses that had these symptoms and muscle irregularities without the genetic disorder got dumped in the PSSM2 bucket. Now they are sorting out the various causes of PSSM2 and separating those out, example myofibrillar myopathy. Valbergs lab continues to publish on findings. Lots more info about the differences on the link above.

equiseq is claiming to have found genetic variants causing PSSM2, of which their are more than one (makes sense re valbergs continued research). But they are not sharing what those variants are so there is no true way to interpret their results. Plus they are selling the test and not giving results in a timely fashion.

I received a fb message requesting I submit blood after posting on the pssm forum. I did not simply because I don’t agree with the ethics of their research approach.

[bugsynskeeter]

Most of it is on the PSSM Forum on Facebook.

[PeteyPie]

I got the exact same email (except the bloodline relatives named were Nasrullah and Buckpasser) but have not yet replied because I wanted to check out the company. I also googled the names before even opening the email. It will cost me because I will not pull the blood myself; I will have the vet do it (if I do it at all). He may not charge me for it, I don’t know.

I am such a suspicious person. If the study were part of a public project like a university study, I would have fewer qualms. On a positive note, the concept of identifying a genetic influence in certain pedigrees and a test for breeding stock is something I support, even though there will be pushback if certain stallions or mares are shown to carry the gene. I just wish it were for a non-profit rather than a commercial endeavor.

[bugsynskeeter]

They should be more worried about getting test results to people who paid for them before doing free tests on solicited samples.

[PeteyPie]

@knic13

There is a hair test for PSSM1, developed by Valbergs lab while she was at University of Minnesota. Also offered as part of aqha 5 panel through UC Davis. Also can be done through Animal Genetics.

PSSM1 can also be diagnosed via muscle biopsy at Michigan State, same researcher as above. She simply changed universities.

As the muscle myopathy research progressed, they found that horses had similar symptoms but not the same muscle morphology and ultimately genetic disorder as PSSM1 horses (irregular glycogen storage). All horses that had these symptoms and muscle irregularities without the genetic disorder got dumped in the PSSM2 bucket. Now they are sorting out the various causes of PSSM2 and separating those out, example myofibrillar myopathy. Valbergs lab continues to publish on findings. Lots more info about the differences on the link above.

equiseq is claiming to have found genetic variants causing PSSM2, of which their are more than one (makes sense re valbergs continued research). But they are not sharing what those variants are so there is no true way to interpret their results. Plus they are selling the test and not giving results in a timely fashion.

I received a fb message requesting I submit blood after posting on the pssm forum. I did not simply because I don’t agree with the ethics of their research approach.

This is a great explanation of what is going on and exactly what I hoped to learn on this forum. Thank you for your concise and clearly-stated explanation. I was also troubled by my impressions of the ethics of the situation but without a scientific background and without a thorough knowledge of the issue, I found it hard to put my finger on what was bothering me, so your explanation is really helpful.

Thank you all for your information on this topic and on that company, eqs. I only know enough about PSSM to discuss my concerns with my vet and to feed a low-starch diet and that’s about it. Every little bit adds to my base of knowledge.

[appycowgirl]

Personally, I have participated in EquiSeq’'s study as I enrolled 14 horses to be part of the unselected sample. The nice thing is that the only thing it has cost me so far was to have my vet draw blood and overnight the blood to a place back in NC so they could extract the PCR chain from the blood for DNA testing. Now while there is a lot of controversy out there about this company, a lot of it has been raised because folks are trying to bully EquiSeq. See, they have found genes that Dr. Valberg and the other researchers haven’t been able to locate and Paul Szauter with EquiSeq, when he gave me my P2 results back in April of 2016, told me, they wouldn’t find because of how they were looking for the gene.
I’ve talked with my sister about this as she works for the USDA in the DNA and genome plant sequencing lab and she told me that there is numerous ways to extract DNA.
While some folks were waiting months on DNA results on hair, myself included, many if those waiting, were getting free results. I do know that EquiSeq had problems with the first lab that they contracted to, to do DNA testing from hair, plus they had to develop the correct primers to detect the correct gene on hair samples. They just recently contracted with another lab and a friend of mine was talking to Arne DeKleot of Animal Genetics and he told her that they were doing the testing for EquiSeq but that one of the tests, they were trying to narrow it down to make it more accurate.
I think people will now start to see a better turn around time as AG is a very reliable company, but you still have to order the tests through EquiSeq as AG doesn’t Personally offer the tests.
These tests are testing for variants that can create the appearance of PSSM on a muscle biopsy as you could never do DNA testing for PSSM 2. Sadly, they have found that it is more then just one gene that is causing PSSM 2 and PSSM 2 essentially became a dumping ground for all muscle biopsies where the horse wasn’t positive for PSSM 1. So far EquiSeq has found 4 genes and they believe there is another gene out there as they have horses with muscle biopsies that haven’t come up positive for the 4 genes that they have found.
Personally in my opinion, I think once EquiSeq releases their study, it will squelch a lot of the naysayers, but the benefits to being able to DNA test for these genes is going to send the equine community forward and we can work towards eliminating these genes that are causing problems for our horses.

[Educated]

I in no way believe this lab is being “bullied” as you say. Why isn’t this lab licensed? Why is the research not proven, studied and validated through the likes of reputable labs and geneticists who can affirm the research and its accuracy? Why does the same horse have conflicting results when tested twice by this lab (with different names on each form)? Why are these variants not present in actual validated, scientific test-positive PSSM2 horses? And how did this fruit fly geneticist and professional actor manage to blow the likes of UC Davis, MSU and so forth out of the water by suddenly developing an affinity for equine testing and discover these variants in what, three months? Nah, something is seriously wrong with this situation, especially when they charge $249 for unproven, non-validated tests for “variants” that actually mean nothing. Add to it the onslaught of jerks who buy into unproven testing like it’s the word of God and then think they have the right to post private test results leaked from company employees all over the internet in an effort to ruin breeding programs and I smell a major lawsuit. It would be one thing if these tests were proven, but alas they are not.