Managing the arrival of a new DNA test

Ensure that you know which laboratory or university identified the mutation/developed the DNA test. Is this an organisation that you or any of your colleagues have heard of before? Note that the testing laboratory may not be the same as the research laboratory that identified the mutation. It is worth asking whether the research laboratory offers the DNA test, as they know the mutation well and are usually a good choice for DNA testing. If the research laboratory does not offer the DNA test, then you should ask all the questions listed in this section to any testing laboratory.

The mutation that a new DNA test is based upon should ideally be subject to peer review and be published in a reputable scientific journal. If a research paper has not been produced you should ask why.

Diseases that are clinically similar, but occur in different breeds, are not always caused by the same mutations. e.g. primary open angle glaucoma (POAG) is clinically identical in both the Petit Basset Griffon Vendeen and Basset Hound but the DNA tests for POAG in each of these breeds are based on entirely different mutations. Ensure that you know exactly which breed(s) the DNA test is intended for.

It is important to know what the frequency of the mutation is in the breed. This information helps breeders determine whether or not to use the test, whether to include it as an Assured Breeders scheme requirement/recommendation or, following monitoring over the years, whether the condition is becoming more or less prevalent. Knowing the frequency of the mutation also allows laboratories to be able to customise breeding advice with respect to a particular mutation.

Sometimes genetically distinct forms of the same disease can segregate within a single breed. e.g. PRA in the Golden Retriever can be caused by one of three different mutations (prcd, GR_PRA1 and GR_PRA2). If a dog has a clear result for one DNA test, this does not guarantee that it does not carry another mutation for the same condition.

If it is an option, it is generally better to choose the laboratory that identified the mutation, as they will know the ins and outs of the mutation, e.g. where and how the mutation was found, whether there are any differences between breeds, and the frequency of the mutation.

Laboratory websites should give sufficient information about the disease the DNA test is intended for, such as how the disease is inherited (e.g. autosomal recessive or autosomal dominant), breeding advice or strategies depending on the outcome of the DNA test,
breed-specific information. They should ideally have a ‘contact us’ section on their website for those who have any queries about the test and how it is carried out.

It is best to choose a lab that practices good customer service, communicates well and even has a good relationship with breed clubs.

Laboratories that are ISO accredited have met general requirements for a good international standard of competence to carry out tests (done via various methods), including sampling. These laboratories ensure that they are able to produce accurate and precise test data. If a laboratory is ISO accredited, it will usually say so on their website.

Do not base your choice of laboratory on the price of the test. The price of test, low or high, does not indicate whether the laboratory is reputable.

These testing schemes involve collaboration between The Kennel Club, the breed clubs and the DNA testing facility. Under any one of these schemes, the breeder/owner agrees for the result of their tested dog to be sent directly to The Kennel Club by the testing laboratory. The Kennel Club then notes the result on the dog’s record in the registration database, which is published:

• in the next available breed records supplement
• on the Health Test Results Finder 

The DNA tests used in these schemes can accurately identify clear, carrier and affected dogs, and can be used by breeders to effectively eliminate undesirable disease genes in their dogs.

By publishing these results, it allows breeders to have a better understanding of which genes a dog may pass on to its offspring, giving them the information required to avoid producing affected puppies. Making informed decisions from health test results enables breeders to adapt their breeding programmes and reduce the risk of this disease appearing in future generations.

The Kennel Club is happy to consider a club’s request to add a new DNA test to its lists and would normally need a formal request from the breed’s breed health co-ordinator and a majority agreement from the breed clubs. The request should be emailed to Gary Johnson.

Currently, the test would need to be run by a laboratory already recognised by The Kennel Club. These laboratories offer robust and scientifically valid testing for dog breeders, thus we are able to record test results from these laboratories with some assurance of quality of data.

There are many new laboratories with no international or national recognition or regulation for our areas of concern; accepting test results from an unrecognised laboratory could increase the risk of compromised data in The Kennel Club's database.

All DNA tests must be able to record a definitive result for an individual dog (i.e. clear, carrier or affected), and must be based on robust science. The Kennel Club is currently working with researchers from around the world as part of the International Partnership for Dogs (IPFD) to establish standards to recognise more laboratories.

Breed health co-ordinators and breed clubs can apply for changes to requirements and/or recommendations of DNA tests for their breed under the Assured Breeders scheme. For changes to requirements (i.e. compulsory testing under the Assured Breeders scheme) the DNA test must already be an official Kennel Club testing scheme, and would normally be running as an official scheme for some time. Recommendations for testing are often for diseases where we do not have an official scheme, e.g. patella testing.

The Kennel Club sends out a media release informing the public about the new test that has now been approved, which breed the test is for, which laboratory or laboratories carry out the test and where the results will be recorded. The media release will also inform breeders
and owners whether they need to submit their dog’s results to The Kennel Club themselves or whether the laboratories send the results directly.

Breeders who have bred a litter in the last five years are sent an email to inform them when a new DNA test has been approved by The Kennel Club as a testing scheme for their breed. This email includes all the information from the media release, as well as a question and answer section to provide more background information on the test and the condition it is for.