Canine Genetic Health Testing 101 with Embark Vet

Dr. Takeshi (Taki) Kawakami, PhD, is a Senior Research Scientist at Embark! Dr. Kawakami's research has been published as more than 30 articles in scientific journals, including Nature and Nature Communications. Having worked on various wild animals and plants across the globe, he is now applying his fundamental knowledge in genomics to understand why dogs are so awesome! Watch the webinar on Genetic Health Testing 101 now!

Transcript

Nicole Engelman [0:00] Hi, everyone! I’m Nicole. I’m Good Dog’s Breeder Community Lead. Thank you so much for joining us today for our webinar with Embark. If you’d like to ask any questions, please feel free to drop them in the Q&A box at the bottom of your screen or in your chat bar on the right-hand side. Good Dog is on a mission to build a better world for our dogs and the people who love them by advocating for dog breeders, educating the public, and promoting canine health and responsible dog ownership. We are a secure online community created just for dog breeders—and completely free for dog breeders, too. We have a Legal Resource Center with sample dog contracts, special discounts, our Club Grant Program (where clubs can apply to receive a grant of up to $2,000), and a secure payment system to protect our breeders from scams, and software built for you to manage your waitlist and your applications. If you aren’t yet a member of our community, we encourage you to learn more about our mission and apply to join at GoodDog.com/join. We’ll be dropping that link in the chat in just a second. With that, I will pass things off to Dr. Mikel Delgado.

Dr. Mikel Delgado [1:06] Hey, everybody! Thank you so much for being here. I’m excited to introduce our speaker, Dr. Taki Kawakami, who is an evolutionary geneticist. He has broad experience in deciphering demographic history and how traits evolve by applying cutting-edge genetic technologies (which is really about looking at how genes interact with the environment). Dr. Taki received his PhD from the University of South Wales, and is now a senior research scientist at Embark. His academic career has taken him all over the world, as he has worked in Japan, Sweden, Australia, and the United States. He has studied flowers, bugs, birds, and dogs. His research has been published in more than 30 very highly-esteemed academic journals, including Nature and Nature Communications. In fact, he was an author on a recent publication on Dalmation spotting and the Roan coat pattern in dogs. We are super excited to host Dr. Kawakami, who is now applying his fundamental knowledge in genetics to better understand why dogs are so awesome. Join me in welcoming Dr. Kawakami. He is going to be going over genetic health testing 101 and handling your questions at the end of his presentation. 

Dr. Taki Kawakami [2:23] Thank you for your very kind introduction and thank you for having us in this live seminar today. I’m glad to be here to introduce some of our recent research work at Embark. I’ll give you a brief introduction about our genetic health testing that we offer. Since this seminar series is Genetic Health Testing 101, I will give this seminar to be simple and pretty basic. I believe we have more upcoming seminars, so more advanced topics will be covered by the following seminars. I am planning this seminar to be about half an hour, followed by a Q&A. 

[3:22] A little bit about Embark. Our mission is to improve the life and longevity of all dogs through science and technology. I’m very proud of being a part of the science team at Embark, in which we discover new genetic markers to achieve our mission. We offer tools and services to help breeders manage the genetic health, traits, and diversity of purebred dogs. Once we find new genetic markers for health conditions and traits, we add those new markers to our product to support breeders. 

[4:12] Embark co-founders—the Boyko brothers (Ryan and Adam)—are also experts in canine genetics. They have traveled all over the world, just like me, to study the origin of dog domestication. Adam is our Chief Science Officer and leads our science team. We always talk about dog genetics, brainstorm new ideas, and examine early findings in our research projects, which is really exciting. He’s also an Associate Professor at Cornell University College of Veterinary Medicine. So we have Cornell University as a research partner. 

[5:00] Our science team is comprised of 11 geneticists, 3 laboratory scientists, and 2 veterinary scientists. Eleven of them have PhD degrees with complimentary areas of expertise and skill sets. So we all work together as a team to make a new scientific discovery, which may be added then to our product to support breeders. 

[5:33] What is genetic testing? Let’s get started on something really basic. 

[5:46] Many of you have already used some form of canine genetic health testing, but some may not. Let’s put everyone on the same page and start from this simple, basic topic. Just to quickly recap: there are roughly 2 types of genetic health testing. One is to test the gene’s predisposition by looking at genotypes of individual chromosomes. Here I show a condition called hyperglycemia and hyperuricemia; it’s a bit of a mouthful. In short, it’s called HUU—where dogs develop kidney or bladder stones. We test this condition by looking at a marker on chromosome 3. The second type of genetic health test is to evaluate the extent of inbreeding. We have statistically shown in a 2019 paper that inbreeding reduces dog’s health overall. I will talk about this a little more in detail in later slides. 

[7:14] These are the kinds of genetic health tests that Embark and other canine genetics companies offer. Now, genetic health tests are not the only tests we offer. You may also be interested in other traits, like coat color, coat textures, shape, size, temperament, and all kinds of traits to maintain and improve your bloodline. Having that many tests—that sounds like a daunting task to do. 

[7:58] Embark offers several comprehensive full-panel DNA tests. These tests include over 200 genetic health conditions, coat color and other trait testing, genetic COI (coefficient of inbreeding). This means that instead of testing individual conditions separately, you can test all of these genetic health traits/conditions in one package. To assist your breeding decision, we offer one-on-one genetic consultations and other useful tools (such as Matchmaker). I will come back to this Matchmaker and expand what it is and what it does later in this presentation. Of course, these tools and supports are available for all breed organizations, worldwide. In the next few slides, I will briefly introduce the first three points (the genetic health conditions, coat color and other trait testing, and the genetic diversity COI). 

[9:28] As I mentioned before, our full-panel test includes 200+ health-related conditions. For each breed, breed-relevant test results are presented at the top, automatically. In this example, on the right, I show Pembroke Welsh Corgis with these 6 conditions at the top. But all the remaining test results are also shown [10:06]. Now, an obvious question that you might ask is: There are extra (say, 194+) test results available to my dog—which is great—but are they relevant to my breed or bloodline? Let’s talk about this in the next slide. 

[10:33] Here I am showing you genotype frequencies of the markers that we use for testing HUU. This condition is characterized by [10:54] of acid in the urine. This can result in the formation of bladder and kidney stones that could be potentially really expensive if you want to treat at a veterinary clinic. Then the cause of mutation is located in chromosome #3. This is an autosomal recessive condition, meaning that you need two copies of the mutant variant (in this case, the A variant, indicated in red). In other words, the heterozygous CA (in the middle) are unlikely to have this condition. As I introduced earlier, this condition is very common in Dalmatians, shown on the left side. Not surprisingly, the AA mutant homozygous are very, very common in this breed. In the middle, we have an English Bulldog, showing a drastic difference in the frequency of the 3 genotypes. The AA genotype (at the bottom) is still present, about 3% of all English Bulldogs. But the frequency is much lower. This condition (the AA genotype) is much less common than in Dalmatians. If you go further to the right, you have Australian Cattle Dogs, where we have zero AA homozygotes. In Dalmatians and English Bulldogs, this HUU condition is fairly common and we highlight these test results as breed-relevant. But in Australian Cattle Dogs, this HUU condition is very, very rare. We do not highlight as highly relevant. However, is it really completely irrelevant to this breed, Australia Cattle Dogs? 

[13:26] Suppose that you have a sire and dam, both of which are CA heterozygotes (meaning carrying one copy of at-risk AA variant). Now, remember the CA heterozygotes dogs are very rare in Australian Cattle Dogs, with less than 1% frequency. So a CA/CA cross is very rare. What if this happens without the genetic health test result? Here we have a 2x2 table called a punnett square. Each parent passes their C or A variant to their offspring via sperm or egg. Passing C and A variants is just a random event, just like flipping a coin. So it’s a kind of 50/50 percent event. So what is the chance of having offspring with the AA genotype? The answer is 25% because each cell in this punnett square has a probability of 25%. The bottom line here is that if this rare CA/CA carry-across happens, there is a 25% chance of the offspring with a high-probability of developing bladder or kidney stones. Even if a condition is rare in Australian Cattle Dogs or even absent in other breeds, it is probably a good idea to have genetic test results of all testable conditions to prevent accidental carrier-carrier crosses (in this case, the CA/CA heterozygotes). 

[15:40] This is a brief overview of genetic health tests. We have been talking about genetic health tests, which is important. Now let’s talk a little bit about our other trait tests. 

[16:06] Our comprehensive test includes dozens of physical trait tests, including coat color, eye color, body size, coat texture, shedding, etc. Combinations of these genetic variants make your dog so unique and special. 

[16:33] Our website provides many useful infographics. This is one of them, showing four representative breeds for four different coat color genes. Here I want to focus on the first two genes or loci. There is the S Locus on the left and the R Locus next to it. The R Locus test is based on our recent discovery. This locus is responsible for Roan. It’s a typical coat pattern found in Australian Shepherd Cattle Dogs. This locus interacts with the S Locus. The S Locus is responsible for white spots. So, for a Roan to be visible, a dog has to have some white areas created by the S Locus. This is the gene interaction between the S Locus and the R Locus to form a unique coat color pattern. Let’s take a look at how these genes interact with each other. 

[17:55] Here we have two punnett squares, one for the R Locus and the other for the S Locus. Another complication here is that the R Locus is a dominant marker, meaning that if a dog has at least one copy of the R variant, then a dog can have Roan. In contrast, the S Locus (in the middle) is incomplete dominance. The SS dogs usually have solid coat color without spotting, whereas spsp homozygous dogs usually have large areas of white spotting. Ssp heterozygous dogs have intermediate of these two genotypes. Suppose that we have double heterozygotes (sire and dam), where the dogs have one copy of big R and one little r at the R Locus and one big S and sp at the S Locus. This is what I mean by double heterozygote. Then ask: What is the chance of having Roan puppies with crossing these double heterozygous dogs? As you can imagine, it gets really complicated. You don’t really have to worry about the specific detail here, but briefly, you need one copy of the big R variant and one copy of the sp variant, which are indicated in these dotted squares. In this double heterozygous cross, there is the total of a bit over 50% chance of having puppies with Roan. The point here is that even with this simple two-gene interaction, it can be very complex to predict what to usually expect in a given cross. Imagine that you have to think of all the combinations of dozens of coat color genes, along with 200+ health conditions. This can be a really daunting task. 

[20:54] We make this prediction a little bit easier. Our Matchmaker tool assists you to select a matched pair of your dog. Here we have Border Collies. Jazz on the left and potential sires. We look for her partner stud dog on the right. We can select a partner within a specified geographic distance (50 miles, 100 miles, whatever). Here I show 4 health conditions where Jazz is a carrier of Collie Eye Anomaly (again, an autosomal condition). It is important to select a stud dog that is clear for this condition so that all their offspring will have no probability of developing Collie Eye Anomaly. Then we have dozens of trait test results, where you can calculate the probability of each of the genotype combinations by using punnett squares. 

[22:24] Our Matchmaker tool also shows an expected litter COI (coefficient of inbreeding). What is COI? 

[22:38] The COI is a measurement of the extent of inbreeding. Why do we care about inbreeding? 

[22:49] I have shown this chart earlier in my slide. Our team has published this work in 2019, where we showed that there is a significant negative relationship between the extent of inbreeding on the X-axis (COI) and the reproductive performance (the number of live puppies in the litter), shown on the Y-axis. The bottom line is that if your dog has high COI, then you have fewer puppies per litter. That’s what this study shows, in general. 

[23:46] We’re also showing that there is a negative relationship between the extent of inbreeding and the longevity. It might be intuitive, but we are statistically showing or confirming this pattern by using our customer-reported data. Now we can see why maintaining genetic diversity, in the bloodline and in the entire breeding population for your breed, is of interest. 

[24:30] I kept using COI as a measurement, but how do we estimate COI? Here we have a small pedigree tree on the left. We have a grand-dam (A), which is the mother of B and C dogs. B and C are half-siblings. And then the dog D is the offspring of B and C. The way we calculate COI is to directly quantify the total amount of DNA sequence segments that are identical between homologous chromosomes. Here we depict two homologous chromosomes with two different colors (green and purple) meaning that there are no shared DNA sequences. Dog A is completely unbred, i.e. the COI is 0. Then B and C dogs generate chromosomes, but those chromosomes are recombinant chromosomes of A’s chromosomes. The combination events are shown in the red and blue ribbons. That’s why they have segments of chromosomes with different colors in B and C, which is shown in the middle part of the right-hand side of the panel. Finally, the dog D inherits these color-coded chromosomes from B and C dogs. The highlight square is inherited from dog A’s chromosomes, so this is an identical stretch of DNA segments. In genetics, we call this shared segment “identical by descent” or IBD for short. So COI is calculated by summing up these IBD segments across the entire genome, divided by the total length of the dog’s genome. 

[26:57] Since this is a direct measurement of COI, we can estimate expected COI for any given parents of dogs, even without knowing their pedigree relationship. Here we have a seminar providing more explanation, given by our principal scientist. Please check it out after the seminar. 

[27:33] Direct COI estimate is only possible if you have research grade high density SNP microarray. These two plots show the raw genotype data we test for across all 38 chromosomes, plus X and Y chromosomes, indicated by these numbers in the middle. Each tiny dot indicates one genetic marker, so there are 200,000s of them. By having this high density SNP microarray, you get where exactly the combination takes place and we can color code all chromosomes to estimate COI. 

[28:25] In the last few slides, let’s talk about our genetic test platform. How can we guarantee the accuracy of our tests? 

[28:38] We use a microarray testing platform, sometimes called SNP, which stands for single nucleotide polymorphism. If you compare the entire dog sequences of any two dogs, more than 99% of their DNA sequences are identical. But the remaining tiny portion is different, and the vast majority of those differences are SNPs. Those SNP genetic differences make individual dogs so unique. A microarray has over 200,000 probes capture these SNPs at different genomic positions. We customize this microarray by adding new probes every now and then, once we find new genetic markers for health and traits. This is a cartoon version of a SNP microarray on the left. In each slot, there are tiny beads shown in the middle panel (these blue dots). Each of them corresponds to a SNP position in the dog genome. Each bead is covered with thousands of probes that are complementary to part of the dog genome. When your dog’s DNA is added to the array, the complementary fragments hybridize with these probes, then SNPs’ actual variations are detected by capturing fluorescent signals shown on the right-hand side of the panel. In this example on the right, the green signal represents a GG homozygote. Red signal represents an AA homozygote. And the yellow signal in the middle represents a GA heterozygote, because yellow is a mixture of green and red. 

[31:03] The top panel shows relative frequencies of green and red alleles. Let’s say green variants at the bottom and red variants at the top. The middle responds to heterozygotes by having one green and one red. We have a number of quality checkpoints, and I am going to talk about one of those checkpoints, that is to check genetic sets. Here I highlight the chromosome X on the right, indicated by the red arrow. You can see three genotype classes: GG, AA, and GA heterozygotes, meaning that this particular dog has two copies of X chromosomes. In other words, this dog is female. Whereas this dog has no heterozygous markers on X, meaning that this dog has only one copy of chromosome X. Next to the red arrow is Y chromosome, then showing no heterozygous markers but we do see signals from these markers indicating that this dog also has one copy of Y chromosome. 

[32:45] So this is one of our many steps. Other steps include quality check of array signals when genotype classing, and many others. For many of the important health and trait tests, we add multiple duplicate probes to really ensure the accuracy of our records. The whole process is highly automated, from swab handling, barcode labeling and rating, DNA extraction, all the way to having the results delivered. Thanks to the high density SNP microarray, none of the dogs carry the identical genotypes across all 200,000 markers. In other words, if there are multiple swab samples collected from the same dog (either by mistake or intentionally), we can unambiguously detect such cases. 

[33:57] Here is a list of resources that we posted on our webpage, so please make sure to go there and check them out to learn more about canine genetic health and genetic tests. 

[34:16] We are here to optimize your breeding program by offering various tools and services. We have special arrays for testing entire litters that is a litter package, shown in the middle panel. We also have breeding packages for testing prospective mating pairs to facilitate health information as part of a breeding program. 

[34:52] With that, I’d like to thank you for coming and for your attention. I’m happy to take any questions. 

Dr. Mikel Delgado [35:03] Thank you so much, Taki. Thank you everybody who’s been submitting your questions before our session. Some of you sent them ahead of time, and there’s been a steady stream of questions coming through. I do want to put out a disclaimer because I know people are disappointed if we don’t answer their questions. We are going to have to avoid answering super specific questions, so certain medical conditions. We can’t give you breeding advice on your situation, so I’d definitely encourage you to take advantage of some of the resources. We’ll be posting those links in the chat as well. You can also go to help.embarkvet.com to learn more about the services that Embark offers. There’s definitely a range of genetic counseling opportunities out there (not just Embark, but other places as well). Don’t hesitate to reach out for genetic counseling if you think you need it. Now let’s get started on the questions! We’ve got about 20 minutes to get through what you’ve been asking and keep the questions coming in! The other thing I wanted to say is if we don’t get to your question, please keep asking questions. We are going to be using those questions to make decisions about the kind of educational opportunities we’ll be offering at Good Dog in the future. So if we’re getting a lot of questions about certain conditions, that tells us that we need to be providing more information for our breeders. Getting started: Taki, we got a few questions about how we can reduce inbreeding in our genetic pool, and can we do that quickly? How quickly can we reduce that COI?

Dr. Taki Kawakami [36:41] My short answer is that it takes quite a long time. Any drastic change would be more harmful than beneficial. For example, we have a population geneticist on our team who can simulate how the COI changes over time. The best practice is to look for dogs by using the Matchmaker tool. Then you can look for dogs that are sort of genetically different (so to speak) from your dog and try to use those pairs to decrease COI and increase genetic diversity. That’s the general outline. 

Dr. Mikel Delgado [37:47] We’re getting a few questions about Embark’s testing methods. One question is: Why does it take so long to get my test results? 

Dr. Taki Kawakami [38:00] As I mentioned in my presentation, we use various steps of quality control just to really ensure that our genotype codes and test results are accurate. That takes a long time. We also compare your dog with many other dogs in our database, for example the Matchmaker and those sorts of one-by-one comparisons. Our database is really growing fast and that comparison takes some time. We’re improving it right now, but that’s some of the time-consuming steps. We are trying to shorten that time. Right now, our turnaround time is 2-3 weeks. But it depends on the time of the year. 

Dr. Mikel Delgado [39:12] Maybe it would be helpful to our viewers to understand: When you say you’re making new discoveries, how does that happen? Why do you include tests for some diseases and not others? Can you explain a little bit about what determines what you offer? 

Dr. Taki Kawakami [39:33] Our general approach is to return the most reliable test results. Our reliability comes from scientifically rigorous findings (after publication in a peer-reviewed journal), and second, we internally validate those tests, even if the cause of relation is found by the university researchers and other groups. We internally really validate the association between those markers and the disease condition. Unless we cannot guarantee a strong association between the marker and the disease condition, we cannot really release those tests as a reliable source of information. 

Dr. Mikel Delgado [40:41] Gotcha. So you are really monitoring the current research, in addition to the research that your team is doing. You’re also keeping your eye on what other geneticists are doing. 

Dr. Taki Kawakami [40:53] Exactly. We are also actively involved in the discovery of new health and trait conditions. 

Dr. Mikel Delgado [41:01] Yeah, I just read the paper you published in Plus One a few weeks ago, so that was really exciting. Okay, I think you kind of touched on this, but we did get questions on how accurate your tests are. Can you speak a little bit to the accuracy? 

Dr. Taki Kawakami [41:18] Let’s step back and talk about what accuracy really means. Roughly speaking, there are two types of accuracies, so to speak. The accuracy of genotype, which is to detect A, B, C, and G nucleotides. The other accuracy is the predictability of your condition of interest by using genetic markers. For the first one, we can assure you that our genotype goal is 99.99% accurate. Let’s say this position has A nucleotide, we can say nearly 100% that that is accurate. Having a variant at this particular position for condition B is not always 100% accurate. There are many reasons for that. The most important factor is the environment. In genetics, we use a term “gene by environment interaction” or G by E. Let’s think about, say, diabetes in humans. You may have dozens of risk genotypes for diabetes. Some end up with diabetes but some may not. That might depend on your diet, exercise, and many other variants. We cannot completely accurately say, “Hey, your dog will develop this disease because you have 2 copies of risk variants.” That’s the different levels of accuracy. 

Dr. Mikel Delgado [43:25] Great, thank you for explaining that. While we’re on the topic of accuracy, we did get a question about whether or not the Embark test can give an accurate reading for the Roan factor in American Cocker Spaniels. I know you just were a co-author on the Roan paper, so can you just tell us a little bit about that study and what you found?

Dr. Taki Kawakami [43:45] Yes! We found a punitive cause of the variant for Roan on chromosome 38. It’s not a SNP variation, but the [44:07] of a small variation of chromosomes doesn’t make a copy and paste on the chromosome. In our study, by using nearly a thousand dogs—the association between that duplication and the Roaning is 100%. We are really confident that this is the most top-notch smoking gun candidate cause of the variant for Roan. The highlight here is that we used customer-provided photographs to run this project. This paper really showcases the power of community scientists involved in our science. We worked as a team, together, to make this discovery possible. It was really exciting.

Dr. Mikel Delgado [45:08] That’s great. Do you know if there were any American Cocker Spaniels in that sample? 

Dr. Taki Kawakami [45:12] I believe so. We used about 30 or so breeds in our study sample. 

Dr. Mikel Delgado [45:20] We got a couple of questions about updating results. If people have already submitted a swab to Embark and then you have new genetic discoveries (either health tests or traits), do they have to then submit another swab of their dog or do you keep that sample on file? Do you run more tests on old samples? 

Dr. Taki Kawakami [45:44] My general answer is yes. The reason is that we add new markers every now and then, usually once a year, to the SNP microarray. With that said, we cannot update your dog’s results if those dogs were tested by the older version of SNP microarray. We have a discount. If your dogs were tested by Embark previously, we have a discount code for those cases. There are very rare cases where tests are available for older versions of chips, and that is a case where the prediction is based on so-called linkage tests. The linkage test is not to directly test the punitive cause of variants but by using the surrounding markers to infer the cause of the variant. That happens sometimes, but that’s not the majority of the case. 

Dr. Mikel Delgado [47:05] Okay, so in those cases it’s like if you have these other markers, you probably also have this thing, even though you’re not directly testing for this thing? Is that correct?

Dr. Taki Kawakami [47:14] Exactly. 

Dr. Mikel Delgado [47:16] Gotcha. We got a question from one viewer: You recently started testing for Coco in French Bulldogs. Is there a way to test my other dogs prior to testing the test for Coco? I think this is a similar question. They tested some dogs previously. You just added a new test, the Coco variant. They want to know if their previous submitted tests will allow you to update that. 

Dr. Taki Kawakami [47:45] This variant was recently discovered, last year, 2020. Unfortunately, our early chip version did not include this marker. Again, we offer a discount code for dogs who have been previously tested, but it’s not available for the older versions. 

Dr. Mikel Delgado [48:18] How often do those chips get changed? Is this a constantly evolving part of the technology? 

Dr. Taki Kawakami [48:24] Regularly. It’s once a year. But it might change in the future. 

Dr. Mikel Delgado [48:33] We’re getting some questions about clear dogs and whether they should be bred to carriers. One viewer has a question about IBDD. They have studs that have been advertised as DNA clear carriers and have recently been labeled as risk for IBDD. These are toy breeds. They all have the long and low body shape. They feel discouraged because they thought they were clear and now they’re getting questions about whether or not they are. As they say: If we try to breed away from that, our gene pool will be a gene puddle. Help! 

Dr. Taki Kawakami [49:16] There are two questions in this question. Why did their dogs’ results change from clear to carrier? This test is a rare case where we used linkage tests. The cause of variant is itself a [49:45]. I’m not going into the details. Basically, it’s a non-SNP variant, but it’s hard to detect via SNP microarray technology. With that said, we used a linkage test. We have a sway of reference panel. If there are specific combinations of the variants in the surrounding region and that panel changes over time, we refine those reference panels over time to increase our prediction accuracy. In this particular IBDD case, this just happened. We updated our reference panel, maybe late 2020. That’s the reason why some conditions have changed from clear to at-risk. 

Dr. Mikel Delgado [50:59] That happens in genetics, too, right? The technology changes. Our knowledge changes. Everything is probabilistic, so it’s hard to say 100%, but it sounds like the updated tests are pretty accurate. 

Dr. Taki Kawakami [51:12] That’s right. The second part of the question: Should we use a carrier dog for your breeding program? This is not specific to IBDD but in general, to any conditions/any autosomal recessive conditions. Our general advice is use those dogs actively. If the dog is otherwise perfect—the shape, the temperament, retrieving activity, whatever color—use those dogs in your breeding program, just ensure that you’re choosing a partner that’s clear for that condition so that their offspring will not exhibit that condition. If you actively remove those carrier dogs from your gene pool or the breeding program, that would significantly reduce the size of the gene pool, the COI will go up very, very quickly. That’s something we want to avoid. The negative consequences are, as I said, shorter longevity, reduced litter size, and some unknown autosomal recessive diseases. 

Dr. Mikel Delgado [52:59] Thank you. On a related note, if someone is breeding dogs that are clear for a condition, why should they still test their puppies?

Dr. Taki Kawakami [53:07] Yeah. I guess the clear condition is confirmed by clinicians, or non-genetic tests. If my assumption is right, then you would never know if that dog (with a clear condition by no genetic tests) is a carrier or completely clear, if it’s a GG homozygote or GA heterozygote. If it’s a heterozygote but not showing any symptoms, then you may accidentally cross your dog with another carrier dog. To avoid that unfortunate accidental carrier-carrier cross, it’s good to know genetically that your dog is clear, the GG green homozygote. 

Dr. Mikel Delgado [54:30] We’re getting some questions about the future of testing. Does Embark test for hip dysplasia or will you be able to in the future? Similar or equal standard of the current OFA testing.

Dr. Taki Kawakami [54:58] Short version of the answer is no. This is a really complex disease. All the examples that I showed you in the slide are simple, single-locus diseases or health conditions. Hip dysplasia is likely to be a polygenic disease, where we have multiple loci involved in this condition. We are really working hard on it, but we haven’t returned this as a test yet.

Dr. Mikel Delgado [55:36] On a similar note, is there any progress on finding genetic markers for cryptorchidism?

Dr. Taki Kawakami [55:47] No. Again, as far as I know off the top of my head, no we don’t offer that testing. 

Dr. Mikel Delgado [55:57] Okay. Maybe something for the future citizen scientists project. 

Dr. Taki Kawakami [56:00] Yup! On a related note, we are actively recruiting those conditions to run our ongoing research projects. If you buy an Embark kit, there is a survey page where you report all the coat color and physical traits and conditions along with health conditions. Those health conditions help other breeders. Again, this is a community science project. We are really working together with breeders to really discover the cause of mutations associated with many, many disease conditions. 

Dr. Mikel Delgado [56:56] We got a question about what method you use to collect samples. Can you walk us through what that process looks like? 

Dr. Taki Kawakami [57:00] You can order our kit, and you will receive a package. The package contains a simple swab. Just stick it in your dog’s mouth and swab for 30 seconds or so. Put it back, ship it. The return shipping envelope is included. Maybe 2-4 weeks after, you will receive your dog’s results online. 

Dr. Mikel Delgado [57:42] We are almost out of time! Just one last quick question. Someone wants to know whether they can get a tailored report for their breed in the pages and pages of the 200+. Do you have that option? 

Dr. Taki Kawakami [57:53] Not really. The breed-relevant results are highlighted at the top, so that makes it easy to locate. You can print out the test results, which are ready for submitting to OFA or to Good Dog as well, to highlight the test results. That is an option, to quickly go through the relevant conditions and traits. 

Dr. Mikel Delgado [58:41] Okay, great! Thank you, Dr. Taki, for your time and expertise and for answering the questions so graciously. I’m going to hand things back over to Nicole to wrap up. Thank you everyone for sticking around. We hope you enjoyed the talk. Embark will be providing some additional answers to your questions. Good Dog will also be taking your feedback into consideration for future educational opportunities. If we didn’t answer your question, don’t be too sad. We will do our best to get that information to you one way or another! 

Nicole Engelman [59:12] Awesome! Thank you so much for joining us today. Please keep a lookout for an email from Good Dog, which will have a recording of this webinar. If you are not yet a member of our community, you can apply to join at www.gooddog.com/join so you can stay up to date on all of our future webinars and exclusive events, just like this. Thank you so much for joining, everyone! Bye!