Genetic Disease Control FAQs

Aussies are in many countries.  What should people do within their countries to control genetic diseases? 

 Breeders within each country should establish close bonds of communication.  If you do not yet have a national breed club, you should establish one.  Give serious consideration to broadening your local gene pool.  Most populations outside a breed’s country of origin tend to be established through contacts with one or a handful of country-of-origin breeders.  As a result, the imported dogs tend to be related, which can lead to rapidly rising levels of inbreeding if different stock isn’t imported to supplement the population.   A population that is too tightly inter-related is bound for problems, no matter what foundation stock is used.

Creating or using an existing open disease registry would also help.  This way breeders and others can access information about a dog and its near relatives when assessing whether an individual might be a good mate or a useful addition to their breeding programs.  A number of European countries have such registries and you may want to model what you do on those.   You could also utilize the open health database of ASHGI’s International Directory for Australian Shepherd Health.

Other things you can do include using existing open databases for pedigree research on health items.  IDASH incorporates as much of this information as possible, but will not contain recently posted data and may not have data from some registries or clubs.  Communicate with breeders in other countries that have had the breed longer and have a larger population of dogs.  Knowing which dogs in those countries had problems can help you analyze the pedigrees of your local population as regards health issues.

When dealing with breeders in your search for new imports, insist on seeing copies of current eye, hip and elbow certifications.  Be sure you understand how the export country’s systems of evaluation may differ from those you use.  For US and Canadian dogs, make use of our Orthopedic Foundation for Animals (OFA) on-line database.  It is largely a closed registry but still provides a wealth of useful information.  The owner has to specify whether information may be made public on affected dogs and many do not.  However, you can search to see what dogs related to the one you are interested in have cleared.  If there is a conspicuous absence among those relatives, it might indicate a dysplastic dog and should be questioned.  However, there is another hip scheme here (PennHip) and the dog may have been done with that instead.  If so, that information should be made available to you if you ask.

Education is important.  Urge your local breeders to search the Internet.  There is good information about Aussie health to be found there, though the sites are generally in English.  Those who read English could translate useful information for those who do not.  If you have a club, establish a website with educational information in your own language.   Most writers will be happy to give you permission to translate their articles for your site. 

As an individual breeder, if you are considering importing a dog you should only do so if it has had its hips and elbows cleared, has had a clear eye exam within the past year, a thyroid panel, Pelger-Huet Anomaly screen,  and has been DNA tested for MDR1, cataracts,  CEA, the PRCD form of PRA, degenerative myelopathy, and cobalamin malabsorbtion.

 What can we do to control genetic diseases if there’s no DNA test and some breeders won’t talk about them?

 Learn everything you can about the inheritance of the disease and what individuals have produced it.  Breed dogs with especially risky pedigrees to the least risky acceptable individual you can find.  Above all, be open with others about your pedigrees and ask them to do likewise with you.  If someone has a reputation for being dishonest, avoid dogs of that person’s breeding.  Seek out those who publicly state that they will be honest and open (see ASHGI’s Ten-Steps Program) and work cooperatively with them so that you all can make the best possible choices for the sake of the breed.

 Why won’t people be open about genetic health issues? 

Historically this has been a huge problem in most breeds.  However, there is a growing shift in attitude.  ASHGI’s Ten-Steps Program is one example of this.  On the broader scale, look at the development of the Canine Health Information Center (CHIC) by OFA and the AKC Canine Health Foundation.  Prior to 2000 programs  like these would not have been developed in the US and many other countries, though some European kennel clubs have been very forward thinking and established open registries for some conditions some years ago. 

Contact those who have made personal public commitments to share health data.  Encourage those who are coming forward.  Let them know how important their action is and how much you appreciate it.  If less enlightened individuals act to discourage someone from being open, defend the individual who is being open.

 Unfortunately, there are also those who are so terribly threatened by the thought of open information exchange that they lash out.  Such actions can drive others back into their shells.  It also doesn’t help that for so many diseases we don’t yet have DNA tests and for some diseases even diagnosis can be a muddy process. 

Breeders must keep talking about inherited diseases, including sharing information on affected dogs, or we will never be able to significantly reduce the frequency of these diseases.  Talk to people at shows and club meetings.  Share information and resources.  Don’t let those who want to hush things up prevent you from learning and sharing.  You have a right to talk about your own dogs and listen to others do the same.  

 How are breeders to make the correct choices if those who own their dogs don’t let them know about cases of genetic disease?

 They can’t.  It is vital that breeders be informed of serious health issues in dogs they have produced.  Not only is the information valuable to the breeder, the breeder may be able to help the dog’s owner by providing information about the condition and its treatment.

Ideally, the owners should also inform the stud owners but unless the owner is active in the breed they may have no idea who they are or how to contact them.  Therefore, the breeder has the primary responsibility to inform the stud owner of any health issues that come up.  Breeders should also contact owners of siblings of affected dogs to make sure they are all healthy.  Owners of siblings that are breeding animals should be informed of what happened.  Stud owners should inform owners of any other bitches the stud bred when something unwanted is produced.  And, of course, all involved should be open about the situation when arranging future breedings or puppy sales.

Reasons owners fail to contact breeders are varied.  Puppy buyers who are not breeders themselves may have no idea the information was important.  People involved in the breed should be aware of our most common health issues, but pet buyers or people who are involved only in all-breed performance competition probably do not.  Therefore, breeders should follow up on the dogs they’ve produced throughout those dogs’ lives. 

Unfortunately, some people don’t handle bad news well and owners may fear a “shoot the messenger” response.  When someone gets nasty it is hard enough for people dedicated to the breed to stand up to, particularly if the angry breeder is well connected.  Even so, you must provide them with the information.  If someone is unpleasant, realize you’ve done the right thing and their displeasure is their problem, not yours.  If people are not willing to talk about inherited disease in dogs openly, willingly and without rancor, threats or accusations, controlling genetic disease will remain difficult.

 Do pedigree analysis programs for health issues help breed better dogs?

While they may not realize it, breeders do some level of pedigree analysis whenever they evaluate potential crosses.   They look for dogs that have the traits they consider vital, don’t have those they can’t live with, and are complementary on other issues.  Part of that process is considering what those dogs have produced in the past and how their relatives and recent ancestors stack up.   Certainly healthy dogs are better than unhealthy ones.

Good conformation is an inherited trait, as are good performance or working behaviors.  So are genetic diseases.    The only difference is that the first two are something you want to see and the last is something you don’t.  Think of it in reverse:  A conformation fault or bad performance or working behavior, and no genetic disease are also inherited traits.  In this case, it’s the last you want and the others you don’t.  If you don’t do some level of pedigree analysis how can you have any idea what you will get out of a litter?

If a dog had significant conformation faults or wasn’t capable of performing behaviors needed in conformation or work properly, no sensible breeder would hesitate to say that wasn’t a good thing and discuss it with others.  Why can’t we do the same with hereditary disease? 

If you encounter someone who is reluctant to discuss hereditary diseases, try to educate and encourage them.  If someone is deceptive, don’t deal with them.   If someone tries to intimidate you, stand your ground and do whatever you can to bring the situation into the light of day.  Bully tactics are only effective if you give in.

 Can test breeding help breeders avoid inherited diseases that don’t have DNA tests?    

If the mode of inheritance for the disease is recessive, yes you can.  Simply put, if you breed an affected dogs (two copies of the mutation) to one you want to determine the genetic status for, if you get at least six puppies clear of the disease it is at least 98% likely that the dog you were testing is clear.  But if you can only use a carrier for the test it requires at least 12 puppies which isn’t practical for testing a bitch.  In addition, some diseases are late-onset, so you might have to wait years to know what the status of the puppies is.  This type of test breeding is only practical if the disease is present at or shortly after birth.  Depending on the disease, there can also be serious ethical issues with doing matings that might produce sick puppies.

The application of test breeding is also limited because most of the diseases that don’t have DNA tests aren’t simple recessives.  If inheritance is complex or we don’t know how it is passed, there is no practical way to design a test breeding scheme that could clear a dog – or not – with a single litter.

Successful test breeding requires that you know the genetic status of the individual you are using to test prospective breeding stock.  Example:  You have a dog with normal hips and a high pedigree risk for producing hip dysplasia (HD).  Breed him to two different bitches and wait until the litters turn two, check all the pups and none are dysplastic.   That might mean he has few or no genes for HD but the results may also indicate that the bitches you used didn’t have them, or the dog/bitch combination didn’t have the complete set of genes necessary to produce HD.  Depending on your dog’s actual HD genotype, he still might produce it depending on what genes the bitch had.  

While formal test breeding may not be practical, every breeding you do is a sort of test mating.  Keeping thorough litter records and following up on pups you produce throughout their lives can provide you with a wealth of information.  If you are then willing to openly share that information – both the good and the bad – with fellow breeders, everyone becomes better informed

 Is there a register on those Aussies that we know have a DNA-related sickness or faults according to the Aussie standard?

 There are multiple health registries for Australian Shepherds around the world, though little for conformation faults.   OFA will now register a dental evaluation which would indicate missing teeth, but not bad bites.  Since structural requirements vary so much between breeds, any register of conformation faults would have to be breed-based.

On health issues OFA is semi-open with an easy-to-search database.  OFA registers many types of health exams, including DNA test results and – starting in 2013 – eye exam results.  Also in the US, the Canine Eye Research Foundation (CERF) is a closed registry–meaning only normal dogs are listed–but you can check to see if a dog has been screened and when the last screening was.   The Canine Health Information Center (CHIC,) operated by OFA, contains all OFA public domain data, CERF-normal data, abnormal exam information that is voluntarily submitted by the owners and certain other owner-submitted records.

Open health listings, mostly of hip, elbow and eye check results, are common in Europe.  The Kennel Club in England regularly publishes listings for the breeds it registers and posts DNA test results on their website.  The Swedish, Danish and Finnish kennel clubs and possibly others have on-line health registries.  The French Aussie club posts results on-line.  Some breed clubs, like the ASC Netherlands, also publish health results, including DNA test results in their magazines. 

In Europe, these listings are generally mandatory while in the US they are voluntary and therefore not every dog will be listed. 

ASHGI’s IDASH Open Health Database compiles data from a number of international sources as well as owner-submitted data. 

 What is the CHIC DNA Bank, how can it help control genetic disease, and who owns the samples?

 CHIC, the Canine Health Information Center, was created and is operated by OFA in partnership with the AKC Canine Health Foundation (CHF).  It is much more than a personal blood sample storage system for dog owners.  It is a long-term DNA repository that will provide samples to qualified researchers.  If a scientist wants to draw samples from the CHIC repository, she must submit a grant application to either Morris Animal Foundation or the CHF.  If CHIC has the desired samples and the grant is, portions will then be transferred to the researcher.

Samples and health histories are donated to CHIC by the dogs’ owners and become OFA’s property.  The samples will be kept indefinitely.  Imagine how much could be contributed to research if samples of dogs going back several generations were available when someone is interested in doing research on one of our breed’s health issues?

With sufficient participation by owners and breeders through sample submission, this program has the potential to hasten research which may lead to DNA tests that will enable breeders to avoid producing affected dogs, as well as to better disease diagnosis and treatment.

 What do I do if a breeder will not give me copies of the parent’s health screening and DNA test results? 

 If you didn’t require presentation of those documents as a condition of the purchase, there probably isn’t much you can do.  Every breeder should be willing and able to show you copies of health screening results on the parents before she sells the puppy and copies should be included in the “puppy packet” you should receive at the time of sale.  If these things don’t happen, you should walk away from the sale. 

If none of that happened, the best you can do is try to research your dog’s pedigree using available open health information available on the internet, like the IDASH Open Health Database, OFA’s website, or those available in other countries.   Absence of a listing for screening tests that are cons