A common and important question – why does Embark test for health conditions that are not known to impact my breed?
First, it is essential to know that Embark prioritizes health conditions that are known to impact your breed. Embark clearly highlights these breed-relevant genetic health conditions at the top of the health summary on each dog’s results report. Embark users can also use the pre-formatted OFA Submission report to easily view and print a summary of the breed-relevant health conditions. For details on how “breed-relevant conditions” are determined, see the footnote below*.
Which brings us back to the original question – why test and show results for health conditions that are not known to impact your breed?
In short, this process helps advance the science of genetic health testing by enabling discovery of new conditions relevant to various breeds. Testing for these additional conditions is considered a best practice among researchers, however it is rarely done by other organizations due to its prohibitive cost. Embark’s unique DNA testing process however enables this research to be included at no additional cost, and provides the added benefit of more comprehensive information to share with the breeder.
How does screening for 215+ health conditions contribute to new health discoveries?
To best answer this question, consider how a DNA test for a genetic condition is ‘discovered’. The actual genetic construct, or makeup, of a typical breed – one where the stud book has been closed and no sanctioned outcrossing is permitted – creates a population of ‘like individuals’ that are essentially close relatives to one another. This genetic similarity lends itself to an ideal model to investigate and identify genetic disorders. Once a breed community ascertains a genetic disease or trait is of concern, significant time, effort, and funds are dedicated to identifying a causative mutation so that it can be selectively managed or bred out of the population in the future.
After a successful research initiative identifies a causative or associated mutation, common practice among researchers is to broadly screen the breed population to determine frequency of the mutation within the breed. Many researchers also seek to expand this effort and screen related breeds to determine if there is also an impact in similar type breeds or breed with shared ancestry. The expense of this additional screening is significant however, and it is commonly too cost-prohibitive to screen all breeds, thus the norm is to focus only on the primary breed.
Universal screening is now cost-effective
Embark has changed this paradigm. For the first time, widespread and consequential screening of all breeds for all known genetic mutations is incorporated into standardized DNA testing at no extra cost to the dog owner. Embark has created “sentinel screening”, enabling individuals and breed organizations to be alerted of genetic health conditions previously not known to impact their breed. On occasion, the introduction of deleterious mutations may be due to an unintended outcross to the source breed and only impacts limited bloodlines. Embark’s early detection, much like the “canary in the coal mine” concept, allows action to be taken to manage or eliminate the mutation before it becomes prevalent in another breed. In cases where the mutation may already be common in the breed, but its impact is undocumented, Embark can work directly with breeders, owners, and clubs to determine if the previously unknown mutation has a clinical consequence.
No cost Embark benefits
For this reason, Embark tests for genetic health conditions across all breeds. And, due to Embark’s proprietary research platform and processes, Embark can perform this testing at no additional cost to the dog owner. Embark has already identified mutations of previously unknown existence or significant prevalence in different breed populations than the published source breed or published mutation statistics.
Informing and enabling individuals, clubs, and breed communities, to take immediate action to assess and manage these data is significant, and will have a long-lasting positive effect on overall breed health and wellness.
Every Embark DNA Test supports important research efforts and contributes to new discoveries. We thank all Embark breeders and owners for your continued support, and look forward to further supporting the health and longevity of all dogs.
*How does Embark determine which genetic health conditions are “breed-relevant”?
Embark strives to provide the most accurate and informative health results possible to every user. As part of this effort, Embark’s team of scientists and veterinary geneticists review research on an ongoing basis to learn more about genetic diseases, newly published risk variants, and the breeds of dogs they affect. While some risk variants may be detected in certain breeds, information regarding the clinical presentation (how that affects your dog’s health) of the disease may not be known or yet fully proven. For a condition to be considered breed-relevant, Embark’s science and veterinary geneticist team must have reviewed published research, or gathered enough data on dogs within the breed, to include in the breed-relevant category.