Happy holidays, Embarkers! Erin, your Senior Veterinary Geneticist, here. As 2017 comes to a close, I know we are all reflecting on the events of the year. What goals did you meet? Or what milestones did you hit? What surprises, smelly or sweet, did you encounter along the way? Did you learn about any new breeds of dogs?
Here are some sweet statistics that we wanted to share with you.
Growth from 2016 to 2017
Like a puppy hitting a growth spurt, we are getting really big, really fast! From 2016 to 2017, the number of dogs receiving Embark results has increased six-fold, and we don’t plan to stop any time soon.
Can we break these numbers down further? Of course we can! Some more details for all you curious Embarkers.
Embark dogs by breed composition
To date, 26.3% of Embark dogs were returned as 100% of a single breed (which colloquially we might refer to as purebred), whereas 72.7% were called as mixed-breeds. Also 0.6% are 100% Village Dogs (you special pups, you!), and 0.4% are canid species that are not Canis lupus familiaris (for example, C. lupus and C. latrans).
How mutty can we get?
Pretty darn mutty, is the answer. Within mixed-breeds, you’re just about as likely to have two breeds in you as you are to have eight. Note that we’re counting Supermutt here as a “breed,” though we know it’s really a reflection of a biological process rather than selective breeding. We’ll break down our Supermutt stats in just a few sections.
We went ahead and sleuthed into which breeds were most represented in our purebred and mixed-breed populations. Check those out below!
Perhaps unsurprisingly, the most common purebred dog breeds in our database are also among the most common breeds identified in mixed-breeds. The big exception? The Doberman Pinscher, sliding in at #15 in last year’s AKC rankings, is our number one purebred dog breed. This is no coincidence as it reflects the hard work and dedication of our research collaborator, the Doberman Diversity Project, whose objective is to preserve the genetic diversity, health, and unique spirit of the Doberman Pinscher. Interested in a breed-specific research collaboration? So are we! Email us at firstname.lastname@example.org to get started.
The honorable Supermutt.
Supermutt, a result of heavy breed mixture over the course of many generations, makes a somewhat common appearance in our mixed-breed dogs, with 38.4% of mixed-breed Embark dogs having “Supermutt” as part of their breed mix. While the amount of Supermutt ancestry in a given dog is often quite low, we get a pretty high volume of Supermutt-oriented questions. To that end, I’ve further broken down our stats for you below. Also, this way I get to include a picture of a dog in a cape.
Across all of our Embark dogs, we see an average Supermutt percentage of 4.2%. Note that 71.62% of our dogs have no Supermutt ancestry at all. In the majority (70%) of the remaining dogs, Supermutt accounts for less than 20% of the dog’s total ancestry, as you can see on the line graph below.
A brief Basenji byte.
Basenji is nowhere near our top five breeds of either category, but it is the subject of a surprising number of customer inquiries. In fact, our “What you need to know about your Basenji mix” blog post is one of the most popular search results for “Basenji mix” on Google. For those curious potential Basenji mix owners out there, we’re now up to nine Basenji mixes in our database! Could your dog be number 10?
Personalized veterinary genomics has begun.
Or should I say, canine-alized? Pupsonalized? Whichever you prefer, it’s happening and not just for single gene mutations or breed predispositions.
Before you start to make conclusions from the below data, read this caveat: The impact of genetic health risk variants in most purebred breeds or in mixed-breed dogs have yet to be fully sussed out. You might tell me, “but a mutation is a mutation, Erin!” and you would be right! But just because a mutation is associated with disease in one breed does not mean it predicts disease in another. A dog’s unique genetic makeup can affect the way a mutation manifests clinically.
A great example is a mutation in the RPGRIP1 gene associated with a fairly common form of Progressive Retinal Atrophy. If you’re a Beagle, an English Springer Spaniel, or a Dachshund, your risk for, and clinical presentation of, the disease may vary. We and others have identified this mutation in other dog breeds as well as mixed-breeds, but understanding how it affects those dogs is ongoing.
So please, please, please let us know if your dog has recently received a clean bill of health from your vet, or alternatively, has clinical abnormalities! Embark wants to give you the most accurate information possible regarding genetic health risk, and it all starts with you keeping us informed. Email us at email@example.com with any updates.
Now that you’ve read the caveat, let’s talk about some data.
This year, Embark unveiled its first Clinical Trait, a mutation in the GPT gene that affects a dog’s resting activity level of alanine aminotransferase, a measurement commonly included on veterinary blood chemistry panels to evaluate liver health. Characterized by an amazing colleague of mine, Dr. Michelle White, we know that having one or two copies of the mutation (denoted by having the sequence “AG” or “AA;” green and red curves on the left panel figure) can cause dogs to have a lower baseline level of ALT activity compared to dogs without the mutation (“GG;” blue curve). Further, a portion of dogs with two copies of the “A” mutation have ALT activity “within normal limits” as interpreted by laboratory standards even when they have clinical liver disease (red curve, right panel figure).
White et al. Genetic mapping of novel loci affecting canine blood phenotypes. PloS one. 2015 Dec 18;10(12):e0145199.)
In Michelle’s dataset, about half of her dogs had genotypes consistent with a low normal baseline ALT activity. Embark’s data show a similar trend: Just about half of our dogs would be expected to have a low normal ALT activity.
What does this genetic result mean for your dog? It does not mean that your dog has an increased risk for liver disease, not at all. It means that you and your vet probably need to adjust your “Normal” reference interval for your dog. An increase above your dog’s personal “Normal” might indicate liver injury or inflammation, even if it is within standard reference ranges provided by a laboratory. Note also that liver disease has many clinical signs, and that ALT levels is just one of many diagnostic values that your vet uses to make a diagnosis of liver disease.
It is far more likely for your dog to be a “Carrier” than “At Risk” for a health risk-associated mutation.
Maybe you’re wondering about the more classic “disease risk” mutations.
Let’s look at how our “At Risk” and “Carrier” statuses break down. What I show below is the relative number of dogs with “Carrier” status for 1, 2, or more conditions to dogs with “At Risk” status for 1, 2, or more conditions. Remember, “Carrier” status implies that your dog is not likely to show clinical signs due to his or her genotype, but could pass the mutation on to the next generation. This contrasts with “At Risk,” where you could actually have clinical manifestations due to the genotype.
In our dataset, “Carrier” statuses are far more abundant (4.77 times more abundant, to be exact) than “At Risk” statuses. In both “Carrier” and “At Risk” cases, you’re far more likely to be dealing with just one condition compared to several. We haven’t seen one dog with more than three “At Risk” statuses for the conditions we screen; for carriers we have seen up to five, though those dogs are so few that the bar doesn’t even make it onto the graph above.
Embark Discovery & You
93.8% of our Embark dogs are “opted in” for research.
Note that all of the statistics I’ve shown here are based off of dogs whose humans have opted them in to participate in research. As of today, that includes 93.8% of our Embark pups. Incredible!
We are living in the age of web-based data collection and citizen science, and we’re loving it. In fact, based on owner-reported data, we’ve already generated some interesting genetic associations related with morphological and behavioral traits. So thanks to you, we’re going to be hitting research milestones at a blistering pace. Keep an eye out, and an ear pricked, for press releases and publications in 2018.
What’s still on your wish list?
It’s okay to have lots of things on your list! With all that we’ve achieved this year, all of us here at Embark have a few more things that we want, too. We just can’t help ourselves—we’re curious by nature! Check out what some of our wishes are below.
Which leads us to…
What do you want for the holidays, dear Embarker?
Share this blog post and tag us on social media, and we’ll try to work some holiday magic for you! Find us on Facebook, Instagram, and Twitter below.
Discoveries are happening, Embarkers. Thank you for an incredible year.
PS: 2018 is the Chinese Lunar Year of the Dog. We’re ready! Are you?