A canine DNA test from Embark Veterinary doesn't just give an owner insight into their pet's ancestry and health. Thanks to a research partnership between Embark and Cornell's College of Veterinary Medicine (CVM), each test also provides findings that could improve dogs' lives.
Embark uses more than 230,000 genetic markers to test every sample for more than 270 genetic health risks, 350 breeds and 55 traits, generating useful data.
Huson demonstrates a swab used for collecting biological samples for DNA extraction.
Co-founded in 2015 by brothers Adam and Ryan Boyko, Embark has since cultivated the world's largest genetic database, with DNA tests from 2.5 million dogs providing valuable insights for dog owners and researchers alike.
"It would take a very long time in an academic setting to build up a dataset of a million dogs," said Adam Boyko, an associate professor of biomedical sciences in CVM. "When you have a big dataset, you've invariably got some cases for almost every disease. You can use that to help the researchers with their study and increase the sample size and power or provide a validation cohort."
One of those researchers is Jacquelyn Evans, an assistant professor of biomedical sciences at the Baker Institute for Animal Health. Evans has sourced data from Embark for ongoing research into an eye disease common in German shepherds, chronic superficial keratitis, or pannus, that causes pigmented lesions to form on the cornea and can lead to blindness.
Because German shepherd dogs excel as guide dogs and in law enforcement roles, many serve crucial functions for which good eyesight is imperative.
"We're interested in determining why this breed is at especially high risk of this disease compared to other dogs," Evans said. "That fact alone is a good indicator that they have a genetic predisposition."
Pannus is typically diagnosed later in life - after dogs may have been trained for a working role or bred. Identifying genetic markers for the disease could lead to earlier detection and treatment, paving the way for better health outcomes.
"If we can identify the markers, we can use that genetic test to make informed breeding decisions so that we can produce puppies that are going to be at very low risk of getting pannus in their lifetime," Evans said. "The other thing we can do is identify dogs who are at high risk, so if you know a dog is at really high risk for pannus, you can implement early screening and have the dog wear eye protection from UV light, which can exacerbate the disease."
The potential for Evans' research to positively impact German shepherd dogs illustrates Embark's goal since its inception: to accelerate research that benefits dogs' well-being.
Embark data has also inspired explorations of genetic characteristics in specific types of dogs.
Heather Huson has utilized the data for her research on sled dogs. She said that because Embark tests for all genetic variants on all dogs, regardless of the breed, researchers can discover unexpected health trait variants.
"It was a really good opportunity to look at sled dogs as a population and say, well, what kind of health variants are they actually carrying? And are sled dog owners aware that they could be carrying these variants?" said Huson, an associate professor of animal science in the College of Agriculture and Life Sciences.
One study revealed that some sled dogs carry a mutation associated in other breeds with ichthyosis, a skin disorder that causes dry, scaly skin. In the sled dog population, individuals with the mutation were prone to harness rub, a condition characterized by hair loss or irritation where the harness contacts the skin.
"Most of the time people think harness rub is just from poor fitting harnesses or harnesses that don't have enough padding," Huson said. "They don't really think of genetics, so that was an interesting finding we wouldn't have if we hadn't genotyped with Embark."
Both Huson and Evans credited Cornell's partnership with Embark with helping to speed up research, add to data generated in their own labs and compare breeds.
From 2016-17, Embark found entrepreneurial support at Cornell's Center for Life Science Ventures, where the company conducted market research, benefited from mentorship and prepared to pitch to investors.
Boyko said he finds satisfaction in making a difference in dogs' and owners' lives through insights from Embark's tests, and appreciates the culture at Cornell of supporting entrepreneurial endeavors.
"I'm happy that it worked out not just for Cornell and Embark," Boyko said, "but also for science in general to have been able to make discoveries that otherwise wouldn't have been made without this collaboration."
Bridget Hagen is a marketing communications specialist for Cornell Research and Innovation.
