OVERVIEW AND CLARIFICATION OF THE
WHITE SHEPHERD GENETICS PROJECT EVOLUTION
Judy Huston, January, 2005
The first ever White Shepherd/White German Shepherd Dog health survey was conducted in April 2000.
How was the survey initiated?
In September 1999, Dr. George Padgett, DVM, author of “The Control of Canine Genetic Diseases” presented a seminar at the AWSA National in Midland, Michigan. The AWSA membership voted to allow $500 to go towards a survey – it paid for some of the postage. It was prepared with direction from Dr. Padgett and mailed out in April 2000. Dr. Padgett analyzed the results received on 1,000 dogs and delivered a seminar to a small group of White Shepherd owners and breeders in September 2000 at Huston's home. A report was handed out to people in attendance and is still available for download. A video of the presentation is also still available
What was the purpose of the survey?
The survey was conducted “for the ultimate purpose of determining the current status of health, and eventually to improve the health, of our breed.” We began to follow the methods outlined in Dr. Padgett's book to make improvements wherever we could.
Where did the genetic diseases on the survey come from?
The list of 138 disorders of the German Shepherd Dog included in the survey came from Appendix I of Dr. Padgett's book. The diseases came from 45 books, information obtained from OFA, major universities, and 1,100 research papers beginning in 1934. At completion of the survey, we had reports on 57 of the 138 diseases listed for the German Shepherd Dog and these are the ones we focused on first. Of those 57, about 30 of them have been reported to the database.
What criteria have we used to begin treating a given disease as genetic?
The criteria for including a disorder as genetic meant it had to have been reported as being genetic in the breed involved, or reported to be genetic in other breeds, or in other species, or that it follows family lines occurring in multiple generations of a given line. In all cases, we followed the listing for the German Shepherd Dog in Dr. Padgett's book.
Who received the survey?
It was mailed to all club members of all clubs for which I had addresses. An additional few hundred surveys were mailed by a random sort from a huge white GSD database. Further, three of our breeders from our largest kennels did additional mailings and contacts in their own kennels to their own puppy buyers. Surveys were also completed via E-mail and the telephone.
Was the survey anonymous?
Yes, and arrangements were made to have them returned to Sue Martin of the Scottish Terrier Club of America. She opened the surveys, removed them from their envelopes and returned the surveys to me. The identity of people submitting information by E-mail and telephone was known only by me and none of the information was used for anything but preparing the results report.
What happened after the Results Seminar?
Our next step was to start educating ourselves about these diseases and list the affected dogs on charts. It is important to understand that the dogs listed on the charts and the dogs reported in the survey were two different entities – although by definition there would be some overlap, we just wouldn't know what the overlap was. The reports on the survey were by disease and sex of the dog only, while the information reported later to the genetics list for the charts was by the dog's name with all other appropriate information. The premise of Dr. Padgett's work is full disclosure in an open registry. We began tackling one disease at a time. One of our breeders volunteered to help me get the White Shepherd Genetics list with yahoo groups launched in November 2000.
After discussing a disease on this list, we requested disclosure of affected dogs which would be available for viewing and/or downloading in the reports section of that list. The list was open to everyone and paved the way for the time the database would be on a website.
What is an Open Registry?
It is when all the data on an animal is made available to all breeders, whether the dog is phenotypically normal or is affected with one or more diseases. The first two open registries started in 1989 and 1990. A “true” open registry contains much more information than we collect and includes signed releases by people to include all of their information, including pedigrees, registration numbers, health clearances, etc. Our system, though we call it an open registry because it meets the broad definition of data made available to all breeders is more of a health repository – a place where all the data on dogs affected with any condition is compiled in one place. Our release is the data submission form whether by computer, E-mail, or telephone call – as long as it is from the appropriate person.
How did the current Open Registry evolve?
The creation and execution of the survey and subsequent analysis, gave us the list of diseases we needed to recognize and seek to gain specific information. The database has evolved over time from the initial set of lists and charts to a common repository used to gather specific information about individual dogs that have been affected by a health or genetic affliction.
The true heart and soul of the genetics project is the willingness of individuals to post information about their dogs to be included in the open database to be shared with others.
How is the data used by a breeder?
The important point to remember here is that it is only by knowing the relationship of the dog you plan to breed to an affected relative that you can begin to reduce the risk of producing disease. You can only know affected dogs by full disclosure. A breeder can make the best breeding choices by knowing what genetic disorders are in the lines being considered.
What is the breed carrier risk?
This is the risk you have when you randomly breed two White Shepherds. It was computed based on the input to our survey.
How does it help to have this %?
One of the ways to reduce the risk of producing a disease is to block it by breeding to a dog not carrying that trait. If you breed to a dog with a breed carrier risk less than the % listed in the database, you obviously reduce your chances of producing the disease. These percentages are on the original report and they are also listed next to the disease on the list of affected dogs in the database. The only diseases with a breed carrier risk are those computed on reported diseases from the survey.
What information can you get from the database?
Currently, you can access the data by dog's name (alphabetical order) and by condition or certification prior to 2008 on one set of charts and the more current information on the second set. These will be consolidated when the professional database is launched.
How reliable is the diagnosis of a given disease?
The more we learn and the more necropsies and tests we have done on our dogs, the more reliable the data will be. On the initial survey, the instructions stated that only diagnosed conditions should be included. There were cases where the data couldn't be included in the final results because the diagnosis wasn't clear. In our Open Registry, however, we are including everything since we have no way of knowing what information we'll need and what information will be critical in the future. And, the final decision as to what a particular breeder sees as a problem and what he or she wants to breed away from is the breeder's own decision. The decision can be based on all available data.
Who do you trust to get reliable diagnoses?
Most of us are aware that there is a difference of opinion on what is genetic and what is not genetic depending on the list you look at, the specialist you talk to, and the veterinarian you rely on for information, as well as the books and research papers you read. Since we track everything, we will, in all probability, know some things are genetic in our breed before it ever gets added to one of the formal lists. Case in point would be breast cancer. This is not a cancer listed as genetic. Yet, all evidence convinces Joanne Chanyi of Hoofprint Farms that it is, in fact, genetic. We were so sure from the data we had that we went ahead and calculated a breed carrier risk for it. You have to look at the data and make your own informed decision.
How exactly are conditions diagnosed and what do you accept in the database?
We report whatever the owner, the owner of the sire or the owner of the dam report for their dogs. We have learned that the diagnosis is more certain if it came from one of the major universities, a specialist, an MRI, CT scan, necropsy, biopsy, or other lab results. These methods lead to more specific and definitive diagnosis.
What about a vet diagnosis?
The reliability of this diagnosis will depend on how familiar the vet is with what affects our breed and what diagnostic tools he/she uses. If a vet hasn't seen Lumbosacral Stenosis, they might say the dog's tail is broken, they might prescribe rest for a suspected injury, they might prescribe medication but if the owner doesn't go further and get a CT scan or MRI, the diagnosis will be incorrect. So, it appears for the more serious disorders, or the disorders the vet is not familiar with, it is essential to get the proper tests. But, we still have to list what the submitter reports.
What about owner diagnosis?
Some things like cryptorchid, rear dew claws, missing teeth, and umbilical hernias obviously do not always need a vet diagnosis. Also, an owner may be so familiar with a particular disorder because she has seen it before and may opt to forego the expensive test, but will put in the remarks section what the suspected diagnosis is. You have to be the judge of how reliable the data is.
What about dogs diagnosed before we knew which tests to perform or before necropsy was a viable option?
Diagnosis on dogs that are gone probably had a “best guess” diagnosis based on the symptoms presented. An example would be the dogs diagnosed with Degenerative Myleopathy. To date, we have no dog with that diagnosis that had all of the rule-out tests performed (CT scan or MRI). We've learned so far that our dogs can be affected with Cauda Equina Syndrome (Lumbosacral/Spinal Stenosis) and with Intervertebral Disc Disease (IVDD). At some point in the future, if there are no dogs with DM, the diagnosis on those older dogs may be changed to “possible LS or IVDD or both.” We still include these dogs and the diagnosis because it is the best information we have at this time. There is also the possibility that we will discover that we do, indeed, have DM.
Who submits information to the database?
It is submitted by either the owner of the dog, an agent of the owner of the dog (example: some of the earlier information about Crystal's Shepherds was submitted through me with permission from my breeders, Pam and Larry Koons), by the owner of the sire and by the owner of the dam. All three of these people in an ideal world would have communicated with each other before submission and be in agreement. No one else can submit information except as the owner's designated agent. In these cases, you will see two names in the reported by section of the database. If errors come to our attention, we quickly make the corrections.
Why would an “agent” ever submit information?
Simply because the owner of the dog is probably a friend or acquaintance of a White Shepherd breeder or owner but is not active on the genetics list and may not have even known it existed Yet, once they learn of the Genetics Project, they love their dogs and are eager to help. Other times, a current breeder has contact with a former breeder and gets permission to post. In these cases, the agent's name and the owner's name is listed.
What do you do to ensure accuracy?
This has been an evolving process just like everything we do in the Genetics Project. We learn as we go. Currently, the information is submitted on-line and goes to our database coordinator and two other people. When the information is added to the database, a copy of that new document is sent to two people who check it against the original submission form. Then, it goes to the webmaster to put it on line. If after all that there are any errors, the person submitting the data needs to notify the database coordinator, firstname.lastname@example.org.
What are the downsides of an Open Registry (full disclosure)?
In my opinion, there are no downsides, this is the future of dog breeding, this is the best thing we can do for the breed, and this is information we have to have if we care about the breed as opposed to just our own personal dogs. That said, there are some people concerned that there are those who would access the information and misinterpret it or use it against a breeder. There are those who don't trust the accuracy of the information or feel that a breeder is only submitting partial information and is withholding some of it. There are those who just don't like the way the project is being handled or the people handling it. I'm sure there are many more opinions, but these are a few of them. My answer to all of it is that I'm sure everything we do could be done better and someday probably will be, but the foundation had to be set and that's what we've done. When we've made mistakes, we correct them as soon as we know. We're always working to improve and I don't think anyone could argue that point. We've continually moved forward and continue to do so. We urge everyone to forget politics and individual personalities and just think about the good of the dogs. As for those people who would use the information incorrectly, it is everyone's job to help educate so this doesn't happen.
At what point were the charts moved from the Yahoo Groups files to a website?
Dale Malony, with help from Ronda Beaupre, took on the project of designing and launching our first White Shepherd Genetics website. He set up a format to submit information to the database on line. He designed submission forms, enabled people to sort the lists and download them, and to quickly and easily find a list of affected dogs with a given trait they were concerned about producing in their lines. The site also included a history of the project, articles, and case histories.
What does the new website include?
Security features, privacy issues addressed and a user friendly, easy loading design. The databases include a clickable link on each disorder in the databases that you can open and read a brief paragraph of information outlining the basic details of that disorder. A 'what's new' page has been included for access to new items added to the site that you may need to find quickly. A donation page operating with PayPal has been set up to facilitate easy, safe support of the Genetics fund. 'News' boxes throughout the main pages hold information and important Shepherd trivia. A 'Site instruction' area is being constructed. The 'Site instruction' area will feature how to lessons and offer courses on charting, pedigree generation and more. Our Data Submission Policy has been updated and a Q&A section added, and the data submission forms have been redesigned to offer more space for information submission. The website will continue to expand and grow as we do. Stay tuned and look for the changes!
Who do we thank for our Open Registry?
Every person who has shared their dog's information to the database is owed a debt of gratitude You can see their names in the “reported by” section of the database. Every person who donated funds to White Shepherd Genetics Fund Projects is appreciated and hopefully all have been acknowledged in one of our newsletters or reports. Every person who has donated their time and energy to advance this work is guaranteeing the future of our breed. Thank you to each and every one of you.
What is next for us?
People have gone above and beyond by working long and hard on the tasks that have moved us to a place where we now have major universities working with our breed because of our open registry.
Who else do we need to thank?
We need to thank all of those people who did a task just at a point in time that it was urgently needed. People who allowed their beloved dog to have a necropsy to help educate us so that we could stop guessing and know what our dogs are affected with. People who allowed the traits their dog carried to be used to prepare The Care of an Open Registry presentation and video. Most of all, we need to thank Dr. George Padgett. Sadly, he died on December 21,2004, but his work will live on in our breed and all other breeds who used his methods.
What tools do we have to work with? (Questions, requests, comments can be sent to email@example.com .)
What is the major premise of Dr. Padgett's method as stated in his goal in the Introduction to his book?
“My goal is to help prevent serious genetic diseases in dogs, both in breeds and in kennels. If you learn the material presented here, follow the guidelines, and apply this information to your breed or your kennel, you will reduce the frequency of disease, and it will not take you twenty-five years to do it. Health and Genetics Report dated September 26, 2000, prepared by Judy Huston
You need three things to accomplish this task: knowledge, information, and honesty. All three are within your control." Most important, you must know what affects your own dogs and you must share it openly.”
Can we continue to make substantial progress without Dr. Padgett?
Dr. Padgett said we've gone as far as any breed club in working to improve the health of our breed and we're leading the pack in some areas. The Bernese Mountain Dog Club did in-depth work on cancer. We're trying to continue Dr. Padgett's in-depth work on diseases of the spine in our dogs. He unselfishly gave of his time and expertise to bring us to this point. The George Padgett Memorial page will eventually be added to our website.
Even though George is physically gone, he continues to influence us through a good friend of his, Dr. Robert Dunstan. These two men used to deliver seminars together. I asked him whether he was in a position to work with us in any capacity. He responded by saying it was not something he would have time to do with his responsibility as the head of investigative pathology at Pfizer. He said, “My first choice would be a post-doc I have working with me, Dr. Melissa Cox. She is brilliant, came from a family who showed dogs got a PhD in canine genetics and breathes, eats and sleeps dog genetics when she is not slaving for me in the lab.” I contacted Melissa. We exchanged some E-mails and had a lengthy telephone conversation about our projects and her interests and lo and behold, we have a match. She plans to come to our home in Howell, meet our dogs, and collect some more information I've put together for her, including the two presentations we have on videotape of Dr. Padgett. Everybody else will get a chance to meet her on the White Shepherd Genetics list.
We are very fortunate as Dr. Cox earned her PhD at Texas A&M in canine genetics.
Updated November 11, 2006:
After almost two years as our White Shepherd Genetics Consultant, Dr. Cox felt it necessary to resign. She points out that she still believes in our goals. We are very appreciative of the work she did for us and for the seminars she conducted at both the Canadian National Specialty Show in 2005 and 2006 and at the AWSA National Specialty Show in 2006. (Tapes are available for purchase by contacting Judy Huston at firstname.lastname@example.org).