Iris’s Embark (Genetic Testing)

I ended up with an extra Embark test laying around (long story), so I decided to send in Iris’s saliva for DNA testing. I wasn’t expecting to be surprised, but was curious to learn about Iris’s genetic CoI, and thought perhaps her information could contribute to any future studies on genetic markers in Drentsche Patrijshonden via Embark. So, a couple weeks later, Iris’s results came in!

What is Embark?

Embark is a DNA test using a dog’s saliva to determine their breed makeup and genetic markers for certain inheritable diseases and phenotype traits like coat color. Several years ago, we did an Embark test on our rescue dog, Kaia, to determine what breed(s) she was.

Something Embark is NOT is a diagnostic test. If there’s one thing we know about genetics, it’s that we are only seeing the very tip of the iceberg at this time. When Embark detects a genetic marker for an inherited disease, they state: “these results are not a diagnosis, but suggest that your dog may develop clinical symptoms […] Please consult your veterinarian for further diagnostic and care options.”

The value of these genetic marker tests is in combination with other sources of information, such as an understanding of the prevalence and severity of a specific disease in your breed population, and clinical symptoms and additional diagnostic testing to determine whether “at risk” means actually affected or not in your dog. We can also use this information to help make decisions when selecting an appropriate breeding pair.

Iris’s Results

Firstly, Iris’s results came back as 100% purebred Drentsche Patrijshond. No surprise there! 🙂

Secondly, her genetic Coefficient of Inbreeding (CoI) came back at 28%, about average among Drents. CoI is most relevant when looking at a pairing of dogs. It’s heritable in the sense that two dogs that are more related are more likely to produce a higher CoI in their puppies – but if two dogs each have a “high” CoI but aren’t themselves related, they will likely produce a “low” CoI. Generally speaking, the lower the CoI, the “better”, but in a closed studbook like for purebred dogs, sometimes we have to do the best we can with what we have available genetically. A bigger discussion for another blog post!

Thirdly, we saw that Iris carries one copy of the genetic marker for two diseases: von Willebrand Disease Type 1 (which we knew from previous testing), and Degenerative Myelopathy (a surprise!).

I’ve discussed vWD1 in Drents on this blog before, as it has been and continues to be a “hot topic” in the breed, but I had never heard of DM as an issue in Drents. So I decided to do some digging – see below. Thankfully, even in breeds where it does present clinically, it’s generally autosomal recessive, so Iris herself is at no risk.

If you’re curious, her full public profile can be found here.

Embark Data on Drentsche Patrijshonden

Curious, I reached out to the Embark team to get some more information on what genetic markers they have seen across all Drentsche Patrijshonden that they’ve tested. Unfortunately they were unable to give me an exact total number of Drents tested, but they did say it was “dozens”, and they provided the following percentages on the markers they’ve seen:

Von Willebrand Disease Type I, Type I vWD
1 copy: ~37%
2 copies: ~8%

ALT Activity
1 copy: ~31%
2 copies: ~2%

Degenerative Myelopathy, DM
1 copy: ~12%
2 copies: <1%

Acral Mutilation Syndrome, AMS
1 copy: ~10%
2 copies: <1%

Chondrodystrophy and Intervertebral Disc Disease, CDDY/IVDD, Type I IVDD (FGF4 retrogene – CFA12)
1 copy: ~7%
2 copies: <1%

Hyperuricosuria and Hyperuricemia or Urolithiasis, HUU
1 copy: ~3%
2 copies: <1%

As mentioned above, the presence of genetic markers in a breed only tells part of the story, as other breed-specific genetics can either increase or decrease the risk of that disease actually presenting in a dog. After reviewing the best data set we have – the results of the Dutch Club’s health surveys over the past few years – it seems that all of these diseases are presenting rarely, if ever, in Drents, thankfully!

That said, it’s important that we continue to keep an eye on these things and continuously re-evaluate the risk. All Drent owners can contribute to our understanding of if and how these diseases affect Drents by doing things like Embark testing to contribute to the data pool, or if your dog is a carrier/at-risk for a disease, doing diagnostic testing (like BMBT testing for vWD1) and reporting the results to Embark and/or the ADPA, and/or if your dog has any health issues (or even if they are completely healthy!) reporting that information for inclusion in the ZooEasy registry.

Ellie Ovrom Avatar

Posted by

Leave a comment