OVERVIEW AND
CLARIFICATION OF THE
WHITE SHEPHERD GENETICS PROJECT EVOLUTION
Judy Huston,
January, 2005
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?
When you look at the ways to sort the data, you will see
that you can sort as follows:
* By all affected dogs in alphabetical order.
* By all reported disorders (breed carrier risk listed
next to known genetic disorder).
* By the sire of the affected dogs.
* By the dam of the affected dogs.
* By the known genetic disorders with breed carrier risk
(reported in the survey).
* By all other – everything else we are tracking which
includes symptoms of diseases that were never diagnosed
(like heart murmurs and arthritis) disorders that may be
proven to be genetic, disorders that are side effects of
genetic diseases, etc.
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, Joanne Chanyi.
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. Debbie Martin has been
coordinating a research project with a major university
and is in discussions with a second one. She has plans
to offer some on-line educational courses about our
breed.
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?
• Health and Genetics Report dated September 26, 2000,
prepared by Judy Huston
2000 Health
Survey Report
• Survey Results Video taped by Maurice Seeger (presentation
by Dr. Padgett)
hustonjudy@gmail.com
• Brochure listing diseases and their symptoms to give
to puppy buyers and your vet prepared by Debbie Martin.
Health Brochure
• Interview with Dr. Padgett, article written by Dale
Malony
Articles
• The Care of an Open Registry looks at Reeves Royal
Angus Von Tasz, Hoofprint Lancer, Hoofprint Charlene,
and Lyndons Angus to illustrate using test mating to
breed healthier dogs. This was prepared and presented by
Dr. Padgett and taped by Maurice Seeger.
hustonjudy@gmail.com
• Geneticist's pedigrees to be used to track any trait (prepared
by Judy Huston)
hustonjudy@gmail.com
• Genetics Fund (to help breeders with necropsies and to
further our education and research)
hustonjudy@gmail.com
• Genetics Fund Post Card “Thank You” for donations
prepared by Heather MacLeod
• Data submission Post Card prepared by Heather MacLeod
• A series of articles about specific genetic disorders
written by Debbie Martin, Judy Huston, Sher Belonus,
Dale Malony, and others.
Articles
• Puppy packets and letters (Jacki Wheeler, Gloria
Erskine, and others)
Breeding
• Breeder's Assistant – a program that prints pedigrees,
descendents, ancestors, and more. Hopefully this program
will be revised to allow us to quickly calculate risks
in a given breeding.
• Case Histories – a valuable resource written by
individuals whose dog experienced one of the genetic
diseases and which can help others obtain a quicker
diagnosis and give them the support and encouragement
they need to go on.
Articles
• Genetic Trait Worksheet to help breeders compute risks
and make decisions.
Pedigree Chart
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.
“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
hustonjudy@gmail.com
.)
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