EMBARK - DNA profiling

EMBARK is an American based company that is working with the Clumber Spaniel Health Foundation. They can test your dogs DNA from a bucal (mouth) swap for 170 genetic conditions and give your dog an actual COI (Coefficient of Inbreeding) score. Hettie, a 4 year old bitch with diagnosed Incomplete Ossification of the Humeral Condyle (IOHC) was recently tested and her COI on the Kennel Club (KC) website is 7.9%. The data used on the KC website states that it goes as far back as 12 generations with the first 3 generations being fully complete.

You may be interested to know it is actually 32%. This sound horrendous but even at 32%, her COI is extremely low for a Clumber Spaniel. Of the Clumber Spaniels that have been tested (the yellow line below) most of them were over 40%.

Hettie was tested for 170 genetic conditions including EIC and PDP-1, both of which Clumbers can be affected by. As from January 2022, even if your dog is considered ‘hereditary clear’ for EIC and PDP1, you will be required to test them for both following two generations of hereditary clear status. This will be a more economical way of testing for the two conditions as the Kennel Club accept the Embark results if you forward the OFA Submission report (available on your Embark account) to them at hbs@thekennelclub.org.uk. Please ensure you have updated your dogs microchip number onto the Embark website (within your Embark profile) as the KC require the microchip number on all DNA results.

Hettie is at risk of Chondrodystropy (abnormal cartilage growth and bone development) and Hansen Type I intervertebral disc disease (IVDD). Clumber Spaniels have relatively short legs and a long back. This is described as a chondrodysplatic breed, which is the type of breed that is more commonly affected by IVDD.

Recently, a mutation was discovered that not only predicted the chondrodystrophic body shape, but increases the risk of Type I intervertebral disc disease (IVDD or "slipped disc."). A dog with one or two copies of this mutation has an increased risk of developing IVDD compared to a dog with zero copies. Its effect on body shape is slightly different--a dog with one copy of the retrogene is likely to have longer legs than a dog with two copies, but shorter legs than a dog with zero copies. EMBARK now include testing for this gene within their DNA profiling.

Progressive Retinal Atrophy - Crd4/Cord1 is another condition that is tested for within the Embark DNA test. There are Clumber Spaniels that have been Embark tested and are confirmed ‘carriers’ and also ‘affected’ with Cord1-PRA and the frequency of the mutation is currently 12% although we here at Clumber Spaniel Health, UK are aware of just 1 dog that has been clinically affected by the condition and this was at a young age. Further details are available here https://clumberhealth.helpdocs.io/article/lhle0e2ees-progressive-retinal-atrophy-pra

It was highlighted was that Hettie had a clinical trait that leads her to have a low range of normal Alanine Aminotransferase (ALT) which is a marker for liver function. Hettie has two copies of a mutation associated with reduced ALT activity and her vet has been informed of this. If the vet tested her liver function before starting a medication, they would not be aware that a high range of normal would indicate evidence of liver damage. This is interesting as our other dog from completely different lines also has this trait. There is nothing actually wrong with their livers!

Embark's genetic age feature calculates how old your dog would be if he or she were aging at an average human rate. Hettie is currently aged 40.

EMBARK are working with the Clumber Spaniel Health Foundation to try and find a genetic link between dogs that have IOHC. If we can collect DNA from dogs that are affected with the condition, then it may be that dogs can be tested to see if they carry a gene responsible for the condition. If you have a dog that has been diagnosed with IOHC (or HIF) please email info@hoofandpaws with details and we can arrange a free test for you.

You can submit DNA from any Clumber for a reduced price of $99 via the Embark Clumber portal.

www.embarkvet.com/clumber

The password is: CLUMBERHEALTH (must be all caps)

You simply order the kit online and it is delivered around 2 weeks later. There is a swab with instructions online of how to take DNA from your dogs mouth (video below). You register your kit online and post buck to America. Around 5 weeks later you receive an email with a link to your confidential results. If you want to test more than one dog the swabs can be posted together.

When you receive your results, there is an option to forward a Veterinary report to your vet to advise your vet of any significant finding that could potential help your vet in the future:

There was a very interesting article written by the Swedish Kennel Club available here

References

https://www.skk.se/sv/uppfodning/halsa/dna-tester/Vanliga-fragor/Allmanna-fragor-om-DNA-tester/

https://embarkvet.com/

http://www.clumberhealth.org/home?rq=EMBARK


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