Important Update on DNA Testing of Dobermans
Canine genetic science is breaking new ground rapidly. The non-profit Doberman Diversity Project (DDP) has partnered with Dr. Adam Boyko (Ph.D Geneticist and Professor at Cornell University's College of Veterinary Medicine Canine) and his laboratory Embark Veterinary (the official research partner lab of Cornell University) to cutting edge genetic testing at reduced cost to the Doberman community across the world. The DDP urges the Doberman community to rethink how to utilize today's DNA testing.
Looking for Dobermans with "Clear" DNA Test Results? Until recently, most of us did. We wanted to find "good" answers ("negative" or "clear") on DNA tests for genetic diseases like DCM (Dilated Cardiomyopathy -- a fatal heart disease from which ore than half of all Dobermans die early). But today things are changing. As geneticists understand more about how our dogs' genes impact their health and longevity, we increasingly learn that don't yet fully understand the challenge of improving the health and longevity of our breed. We are learning that simply looking for "clear" and "negative" DNA test results might be short-sighted. We know there's more to finding a healthy dog than DNA disease tests.
Can DNA Tests for Disease HURT the Doberman Breed? In short, we don't know. But it's possible that too much focus on DNA disease tests might actually hurt our breed. But why? Genes run in "packs." And our dog's DNA contains more than genes. It contains other genomic information that affects when genes turn off and on, and what each cell does. It contains "protective" elements that may well keep dogs with faulty genes from turning on (and manifesting a deadly disease). With that in mind, consider what might have happened when the vWD1 DNA test came out years ago. Vom Willebrand Disease is a serious bleeding disorder. When the test for vWD1 came out, breeders rushed to eliminate dogs with the vWD1 mutation from their breeding programs. But what if something protective against DCM "ran in the pack" with the vWD1 mutation? What if we unintentionally eliminated that protective genomic element and inadvertently helped open the flood gates for an onslaught of DCM deaths? We aren't asserting that this is what happened (though Geneticists tell us that it's a viable proposition); the hypothesis is shared to illustrate a point. Geneticists don't yet know enough to be sure that by focusing on specific DNA tests alone to choose our dogs won't actually decrease our odds of finding a health, long-lived Doberman. So if a breeder has dogs with "defects", pause for a moment and talk to them about why they are breeding those dogs. They may well have a very sound reason for doing so.
COI -- a Very Important Consideration. COI is short for Coefficient of Inbreeding and it paints an important picture. COI is simply a percentage of how inbred our dog is. Ten percent COI = 10% Inbred = 10% of the dog's genes are "homozygous" (identical). Some inbreeding (increasing the COI) of dogs is necessary to create the Doberman. It's what created consistency in appearance and temperament. That's a good thing. But there are two sides to every coin. New research found that as a dog's COI rises, the incidence of genetic disease also rises -- and longevity shrinks. In a recent study, canine geneticists found that for each 1% increase in COI, longevity dropped by approximately one month. To illustrate, compared to a dog with a 1% COI, a dog with a 13% COI would be statistically likely to die one year earlier. And a dog with a COI of 49% would be expected to die a full four years earlier. But why? As dogs are increasingly inbred (as their COIs rise), previously hidden genetic mutations emerge and increasingly express themelves as genetic disease. Conservation Geneticists believe that the "extinction vortex" is triggered when COIs rise to the mid teens (e.g., 15% or so). And, hold onto your hat, the hundreds of dogs tested through the DDP routinely test out to have COIs in a frightening range: 18% to 52%.
What Can We Do with this Information? Focus on the big picture. Make DNA disease tests a part of your decision and balance results with other important considerations like Genetic COI and ancestor/pedigree longevity and health, as well as conformation and temperament. A "healthy balance." Isn't that what always seems to be the best course in life? It's also likely the best approach, until researchers can tell us more.
IMPORTANT NOTE ON COI. Pedigree Calculators. Good Enough, Right? Not in 2017. READ MORE
Support Research and Get the Big Picture. The new DNA testing (available to Dobermans participating in the DDP) tells us the ACTUAL level of inbreeding (aka "homozygosity") in a dog, provides critical information on haplotypes, DLA diversity, and disease related genetic mutations like vWD1, DM, PDK4, GPT, and MDR1), and reveals the dog's color genetics including brown, black and dilute (associated with some health conditions). Most importantly, it also supports research into the effect of breeding for genetic diversity might have, or not have, on the health and longevity of the Doberman breed and supports research into the common genetic diseases ending most Doberman lives prematurely.
Looking for Dobermans with "Clear" DNA Test Results? Until recently, most of us did. We wanted to find "good" answers ("negative" or "clear") on DNA tests for genetic diseases like DCM (Dilated Cardiomyopathy -- a fatal heart disease from which ore than half of all Dobermans die early). But today things are changing. As geneticists understand more about how our dogs' genes impact their health and longevity, we increasingly learn that don't yet fully understand the challenge of improving the health and longevity of our breed. We are learning that simply looking for "clear" and "negative" DNA test results might be short-sighted. We know there's more to finding a healthy dog than DNA disease tests.
Can DNA Tests for Disease HURT the Doberman Breed? In short, we don't know. But it's possible that too much focus on DNA disease tests might actually hurt our breed. But why? Genes run in "packs." And our dog's DNA contains more than genes. It contains other genomic information that affects when genes turn off and on, and what each cell does. It contains "protective" elements that may well keep dogs with faulty genes from turning on (and manifesting a deadly disease). With that in mind, consider what might have happened when the vWD1 DNA test came out years ago. Vom Willebrand Disease is a serious bleeding disorder. When the test for vWD1 came out, breeders rushed to eliminate dogs with the vWD1 mutation from their breeding programs. But what if something protective against DCM "ran in the pack" with the vWD1 mutation? What if we unintentionally eliminated that protective genomic element and inadvertently helped open the flood gates for an onslaught of DCM deaths? We aren't asserting that this is what happened (though Geneticists tell us that it's a viable proposition); the hypothesis is shared to illustrate a point. Geneticists don't yet know enough to be sure that by focusing on specific DNA tests alone to choose our dogs won't actually decrease our odds of finding a health, long-lived Doberman. So if a breeder has dogs with "defects", pause for a moment and talk to them about why they are breeding those dogs. They may well have a very sound reason for doing so.
COI -- a Very Important Consideration. COI is short for Coefficient of Inbreeding and it paints an important picture. COI is simply a percentage of how inbred our dog is. Ten percent COI = 10% Inbred = 10% of the dog's genes are "homozygous" (identical). Some inbreeding (increasing the COI) of dogs is necessary to create the Doberman. It's what created consistency in appearance and temperament. That's a good thing. But there are two sides to every coin. New research found that as a dog's COI rises, the incidence of genetic disease also rises -- and longevity shrinks. In a recent study, canine geneticists found that for each 1% increase in COI, longevity dropped by approximately one month. To illustrate, compared to a dog with a 1% COI, a dog with a 13% COI would be statistically likely to die one year earlier. And a dog with a COI of 49% would be expected to die a full four years earlier. But why? As dogs are increasingly inbred (as their COIs rise), previously hidden genetic mutations emerge and increasingly express themelves as genetic disease. Conservation Geneticists believe that the "extinction vortex" is triggered when COIs rise to the mid teens (e.g., 15% or so). And, hold onto your hat, the hundreds of dogs tested through the DDP routinely test out to have COIs in a frightening range: 18% to 52%.
What Can We Do with this Information? Focus on the big picture. Make DNA disease tests a part of your decision and balance results with other important considerations like Genetic COI and ancestor/pedigree longevity and health, as well as conformation and temperament. A "healthy balance." Isn't that what always seems to be the best course in life? It's also likely the best approach, until researchers can tell us more.
IMPORTANT NOTE ON COI. Pedigree Calculators. Good Enough, Right? Not in 2017. READ MORE
Support Research and Get the Big Picture. The new DNA testing (available to Dobermans participating in the DDP) tells us the ACTUAL level of inbreeding (aka "homozygosity") in a dog, provides critical information on haplotypes, DLA diversity, and disease related genetic mutations like vWD1, DM, PDK4, GPT, and MDR1), and reveals the dog's color genetics including brown, black and dilute (associated with some health conditions). Most importantly, it also supports research into the effect of breeding for genetic diversity might have, or not have, on the health and longevity of the Doberman breed and supports research into the common genetic diseases ending most Doberman lives prematurely.
The Essential Doberman Health Tests
This is OUR list of non-negotiable tests, based on extensive consultations with licensed veterinarians and Ph.D. genetic researchers, and on years of personal experience (some of it heartbreaking).
Not sure about any of these tests? Take this list to your veterinarian and solicit their professional advice.
REMEMBER that no health test, written guarantee, or pedigree
of long-lived ancestors will guarantee a long, healthy life.
That said, a thorough review of the puppy's pedigree and these essential test should increase your odds.
Above all, remember that the best health test results in the world may be meaningless if the breeder
had not practiced wise breeding practices (including keeping inbreeding (COIs)
to a minimum and understanding the value of genetic diversity).
You can learn more about each common Doberman disease HERE.
Not sure about any of these tests? Take this list to your veterinarian and solicit their professional advice.
REMEMBER that no health test, written guarantee, or pedigree
of long-lived ancestors will guarantee a long, healthy life.
That said, a thorough review of the puppy's pedigree and these essential test should increase your odds.
Above all, remember that the best health test results in the world may be meaningless if the breeder
had not practiced wise breeding practices (including keeping inbreeding (COIs)
to a minimum and understanding the value of genetic diversity).
You can learn more about each common Doberman disease HERE.
|
HEART DISEASE
Dilated Cardiomyopathy (DCM) Gold Standard Testing Annual Echocardiogram Annual 24-Hour Holter Monitoring Clinical Cardiac Screening ProBNP Testing (blood test done by your vet) Genetic Testing PDK4/DCM1 Test (Chromosome 14) Included in DDP Testing DCM2 Test (Research Not Yet Published/Reviewed) Available only through NCSU (original research lab) HIP DYSPLASIA
Gold Standard Testing PennHIP Radiograph (X-Ray) learn more Alternative Hip Testing OFA Hip X-Ray Grading learn more Genetic Testing None MULTIDRUG SENSITIVITY/REACTIONS
Genetic mutation causing sensitivity/reactions to common drugs Gold Standard Testing Genetic Testing MDR1 Genetic Test Included in DDP Testing |
THYROID DISEASE
Genetic Thyroid Disease Acquired Thyroiditis Gold Standard Testing MSU Thyroid Panel Genetic Testing Congenital Hypothyroidism* (Chromosome 14) Included in DDP Testing * Test Pending Validation for Dobermans LIVER DISEASE
Genetic mutation Affecting Liver Enzyme (ALT) Test Results Gold Standard Testing Genetic Testing GPT Genetic Test Included in DDP Testing DEGENERATIVE MYELOPATHY
Genetic mutation caused disease of the spine Gold Standard Testing Genetic Testing DM Genetic Test Included in DDP Testing |
von WILLEBRAND DISEASE
Clotting/Bleeding Disorder Gold Standard Testing Genetic Testing vWD1 Genetic Test Included in DDP Testing Clinical Cardiac Screening von Willebrand Factor Antigen Assay (blood test done by your vet) learn more EYE DISEASE
Gold Standard Testing CERF Exam (Canine Eye Registry Foundation) Genetic Testing None COLOR DILUTION
Genetic Color Dilution (Trait/NOT a disease) Dilution may be associated with some coat/skin conditions. Gene changes a black dogs to "blue" and brown dogs to "fawn." Gold Standard Testing Genetic Testing Color Dilution Genetic Test Included in DDP Testing |
What's all this talk about COIs?
What does COI mean?
COI is "coefficient of inbreeding" and it gives us a percentage of homozygosity.
What does THAT mean? Why should you care?
Learn more by visiting our
GENETICS COUNT page.
What does COI mean?
COI is "coefficient of inbreeding" and it gives us a percentage of homozygosity.
What does THAT mean? Why should you care?
Learn more by visiting our
GENETICS COUNT page.
* A Final Note on Cardio/DCM Genetic Testing: DNA tests (there are two: PDK4/DCM1 and DCM2) for Dilated Cardiomyopathy (DCM) appear to be only part of the DCM genetic puzzle and more research is needed to gain a fuller genetic picture of what causes DCM. The reason we insist upon the Essential Health Tests and a reasonable Genetic COI is that we want to gain a fuller picture of how healthy and long-lived the resulting puppies will probably be. But we look further than genetic and health testing. If a puppy's pedigree is full of long-lived, healthy dogs, the puppy may be more likely to be healthy and long-lived. But research has revealed that not a lot of longevity in our breed is heritable (consistently passed on). It's not rare to hear a breeder point out that grandma lived to be 12 years old. Most of us like to hear that and focus on that positive point. But it is important to find out of grandma's longevity was heritable. To get an idea, ask about Grandma's siblings? Did they live long, health lives too or was grandma an anomaly? What about grandma's puppies (all of them)? Did they live long lives or did they die prematurely from genetic disease. And what about their puppies? You get the idea. Identifying longevity requires one to turn into a bit of an investigator. When you find a breeder who is a walking encyclopedia containing all of this information, you've found a person worth sitting down with for a few hours. A good breeder will welcome your curiosity. After all, they spent years finding this information and they are usually delighted when someone appreciates that effort and understands how important is is. That said, the decision to buy any Doberman must be made with an honest awareness than any puppy, from any line, can die prematurely or suffer poor health. The BEST way to increase one's odds of finding a puppy that will be healthy and long-lived, is to find a breeder who thoroughly health tests their dogs, performs the best genetic testing (ideally participates in the Doberman Diversity Project), knows their dog's pedigree inside and out, and who breeds Dobermans whose pedigrees are full of ancestors who lived healthy, long lives. It's not a guarantee of a healthy, long-lived puppy but it's as close as we can get today.