In October, I attended a webinar run by the Operational Research Society of which I am a member which I thought had some relevance to problems we are trying to solve in the world of pedigree dogs. The speaker was Professor Dorien De Tombe from the Netherlands who has developed a methodology for solving complex societal problems. Examples of complex societal problems include climate change, terrorism, urban planning, poverty. Healthcare issues such as obesity, malaria and SARS-COV2 are also included.
These are real-life problems with a high degree of complexity and with many different individuals, groups and organisations involved; often with conflicting agendas and where emotions can run high. One of the key points is that they are interdisciplinary problems and cannot, therefore, be solved by one particular set of experts or narrow interest groups that have their own “simple solution” in mind.
De Tombe’s COMPRAM model for dealing with these types of problems was endorsed by the OECD in 2006 when they advised governments to adopt the approach to handle problems that threaten global safety. Hindsight is a wonderful thing, of course, and she pointed out that most governments failed to act in an appropriate way to deal with the complexity of SARS-COV2. The result, unsurprisingly, is a whole series of unanticipated and undesirable consequences (a topic I have written about before).
You don’t have to look very far into the world of pedigree dogs to see that we too face a number of complex societal problems. Animal welfare, puppy farming and cruelty are obvious examples where “simple solutions” such as yet more legislation have consistently failed to make much of an impact. Similarly, the health of pedigree dogs including inherited diseases, genetic diversity and exaggerated conformation are also clearly complex. We can add into the mix some of the more current discussions about what should or should not be registered by the Kennel Club and we have a series of interconnected issues with widely diverging views on what “the solution” is.
Knowledge, power and emotions
De Tombe has been developing methodologies and tools for handling these sorts of complex problems since 1994. In fact, she avoids using the term “solving” and prefers to say “changing” because a solved problem for one person or group is often the start of a problem for other individuals or groups. All these problems have 3 main elements: knowledge, power and emotions.
We know there are problems with pedigree dogs; lots of data has been collected and analysed and there is ongoing research to develop our knowledge further. Different individuals and groups have “power” and often also their own definitions of both the problem and a desired solution or end goal. We have seen that these complex problems result in high emotions; you only have to read the social media posts of dog owners, breeders, vets and campaigners to see this.
The process for handling these problems can be broken into 2 phases. In the first phase, the problem is defined. In the second phase, the problem is changed (solved). All too often, people who are emotionally invested in the problem leap straight to phase 2 and present their preferred menu of (what they believe are) solutions.
Problem definition is critical
My reflection on the De Tombe approach is that organisations such as the Kennel Club and the International Partnership for Dogs invest significant effort in working with the right people to define the various complex pedigree dog problems.
Problem definition starts with becoming aware that there is a problem, asking questions about it and actively putting it on the agenda to be handled. In the case of the KC, the Dog Health Group and its 4 sub-groups are multi-disciplinary experts who can analyse data, exchange knowledge and begin to conceptualise the problem. The definition of a problem usually includes some historical perspectives (how did a breed originate, what did it look like, what were its genetic origins) as well as the current situation. It may also include a recognition that the current situation could become much worse if no action is taken.
To the rest of the world, perhaps this looks like delaying tactics or “kicking the can down the road” but the aim is two-fold; firstly to develop an expert understanding of a particular problem and secondly to build collaborative relationships with those who have the power to own and implement solutions.
Start with the end in mind
Changing the problem starts with considering the detailed data and evidence, plus defining the desired goal. The desired goal is the direction in which the experts or those involved in the problem would like to change the problem. Goals are about what we might want to improve, increase or reduce (e.g. increase longevity, reduce welfare harms). They are not what we might want to “do” (e.g. change the Breed Standards, make health testing mandatory, prevent particular dogs from being registered). Start with the end in mind!
In this second phase, other groups or individuals (beyond those experts who initially defined the problem) can come together to develop ways to handle the problem from the basis of good evidence. In the case of pedigree dogs, representatives of breed clubs are key people to involve. For health issues, each breed has a Health Coordinator and many also have health committees and the KC tries to work closely with these to formulate viable changes. The development of Breed Health and Conservation Plans is a good example of the collaborative approach taken. The Brachycephalic Working Group is another example of how a group of people with different views has been brought together to develop a consensus action plan. The 4 International Dog Health Workshops and, more recently, the IPFD’s DNA Test Reporting Workshop are further examples of how a collaborative approach can lead to practical and supported improvement actions.
Pitfalls to avoid
There are many pitfalls in the process of handling complex problems. I’ve already mentioned the desire of some people to leap to solutions which they are passionate about before the problem or goal has even been defined.
Inviting the wrong people to participate in the process can also lead to inappropriate solutions if, for example, a small group of “loud voices” dominates the discussion. Groupthink is another team issue whereby poor quality analysis and decision-making goes unchallenged. Inviting “outside experts” to comment or play devil’s advocate can help avoid this.
It’s all too easy to end up with negative reactions to the solutions that are proposed and implemented. A key step in the De Tombe approach is for the decision-making team to take time to discuss the possible consequences and reactions before going ahead with them. Elijah Goldratt said “The world of business is awash with ill-considered solutions to ill-defined problems”.
There are already some great examples of collaborative approaches to handle complex canine problems and we should always bear in mind that, for every complex problem, there is an answer that is clear, simple and wrong!
IPFD Virtual Workshop 2021
2021 should have been the year for the 5th International Dog Health Workshop, organised by the International Partnership for Dogs. Unsurprisingly, it wasn’t possible to hold an in-person event that should have drawn participants from around the world.
However, on 28th September, IPFD ran a virtual workshop on the subject of standardising genetic testing. The aim of the workshop was to discuss and share relevant information around the challenges related to standardising genetic test reports. It was hoped that the workshop would identify outcomes and agree actions towards improving genetic reports, ultimately to the benefit of dog health and welfare.
The panel of experts included some names that will be well-known to many of my readers as I have referenced them in previous articles: Dr. Cathryn Mellersh (University of Cambridge), Dr. Jonas Donner (Wisdom Panel), Adam Boyko (Embark), Dr. Joanna Ilska (The Kennel Club), Dr. Danika Bannasch, (University of California, Davis), and Aimée Llewellyn-Zaidi (IPFD). Dr Brenda Bonnett, CEO of IPFD, welcomed everyone to the workshop. The participants included people from 12 different time-zones around the world so this was a middle of the night session for some people!
The pre-work for attendees included a series of video presentations by the panel and these covered 4 topics: Clarity of the test being performed; Risk/susceptibility tests vs. causal/direct mutation tests; Nomenclature and Genetic test application and advice to breeders.
Clarity of the test
From a test user’s (breeder/owner) perspective it’s important to understand that there are different types of DNA test and the implications of this for making breeding decisions. Cathryn Mellersh’s presentation helpfully set out some of the terms that test users need to know: Variant – is a DNA sequence which differs between individual dogs. This is sometimes called a marker. There are 3 types of variant; causal, associated and linked. A causal variant (or mutation) is one where it can be shown with robust evidence that it directly results in a disease. This evidence is usually assessed by peer-review in published research and, typically, applies to simple (Mendelian) diseases. These DNA tests are diagnostic.
An associated variant is one that is found in clinically affected dogs more often than in healthy dogs than you would expect by chance. However, it doesn’t mean that the variant is the cause of the disease and a DNA test would be predictive, rather than diagnostic. In complex diseases, it is likely that multiple associated variants will be involved; hence a DNA test for a single variant is unlikely to be very helpful to breeders in these cases.
Linked variants are ones which are located near to a causal variant on the same chromosome and can be used as proxies for causal variants. They form the basis of linkage DNA tests and are diagnostic for most dogs. However, test users need to be aware that there is always a risk of inaccurate results from linkage tests. There is also a debate about whether linkage test results should be recorded by Kennel Clubs because of the risk of errors.
Discussion in the workshop agreed that DNA labs need to make it clear which type of variant each of their tests is identifying so that users will know what type of result they are likely to get. This also raises the question of how risk-based results should be reported to breeders as well as a whole debate about validation of these tests and whether there is a risk threshold below which they should not be offered commercially.
The discussion of nomenclature used in DNA testing ranged from the naming of genes and variants through to naming of tests and the way results are reported. Cathryn Mellersh shared an example to illustrate the potential for confusion. She described 5 variants on the ADAMST17 gene which are associated with Primary Lens Luxation (PLL) and Primary Open Angle Glaucoma (POAG). 4 of the variants are known to be associated with these diseases in 3 hound breeds and one in the Shar Pei. The 5th variant is known to cause PLL in more than 20 (mainly) terrier breeds. It would be quite easy for a breeder to pick a test for POAG that didn’t apply to their breed, for example.
We also have the issue of names changing over time. In Miniature Dachshunds, we originally became familiar with DNA testing for PRA which was refined to Cone-Rod Dystrophy and became known as the cord1 PRA test. This is also now known as crd4-PRA and some people refer to the RPGRIP1 PRA mutation.
Even the way results are reported varies and can cause confusion. One lab describes results of the cord1 test as PRA/PRA, PRA/n and n/n, meaning Affected, Carrier and Clear. Other labs use the terms homozygous and heterozygous. Others refer to Wild Type, rather than Clear.
For some owners, there is still confusion about what a Carrier means and whether their dog “has a disease”. When you add in the potential for a young dog to test as Affected for a very late-onset condition, it’s easy to see how people can end up worrying unnecessarily.
One useful starting point for clarifying the nomenclature is the Online Mendelian Inheritance in Animals (OMIA) database which is a catalogue/compendium of inherited disorders, other (single-locus) traits, and genes in 298 animal species. This currently lists 816 disorders in dogs, of which 533 are potential models for human disorders and around 350 have DNA tests.
Application of DNA tests
Breeders need to know when a test is applicable to their breed and that’s not always clear from the information published by labs. Just because a mutation can be tested for, doesn’t mean it will be clinically relevant in a particular breed. Workshop participants agreed that it would be useful if labs published allele frequency data and details of the country and number of dog samples they had tested.
The IPFD has started publishing “relevance ratings” for DNA tests in their Harmonisation of Genetic Testing database. These are based on the quality and quantity of evidence underpinning a test for a breed and are worth checking out (https://dogwellnet.com/ctp/).
The consensus view at the workshop was that testing labs should not be offering breeding advice on the basis of a single DNA test. They can report the genotype result and explain the combinations of results that would result from different genotype pairings. They can’t, however, provide meaningful advice without knowing other health, conformation or temperament information about that dog or knowing about the wider genetics of the breed.
I also need to remind you of my hobbyhorse: “health-tested” is not the same as “healthy”!
I’m sure the IPFD will be publishing a more detailed write-up of the workshop and the actions arising, so look out for that.
Finally, the Kennel Club has a useful page on its website explaining more about DNA testing and how to use the results. This page also explains how the results of causal, risk-based and linkage tests are recorded.
One of the potential barriers to improving the health of pedigree dogs is breeders’ lack of understanding of genetics. Most breeders are, by now, familiar with DNA tests for genetic mutations for health conditions such as PRA, CLAD, DM and many more (often also with 2 or 3 letter abbreviations!). The principles of recessive mutations with 3 genotypes; Clear, Carrier and Affected and what these mean in terms of clinically healthy or unhealthy dogs is generally known by breeders. This may be less clearly understood by buyers who may still think that Carriers are likely to be a problem and get ill.
As we move into discussing which combinations of those 3 genotypes can safely be bred together, there are still a range of opinions on whether DNA Affected dogs should be bred from. As long as an affected dog is mated to a clear dog, any puppies will not be affected but will be carriers. In many breeds, where there are small gene pools, it is reasonable to breed with affected dogs (mating only to clears). While it might be argued that not using affected dogs is a quicker way to remove deleterious mutations, it also has the effect of removing all that dog’s genes from the population. Removing dogs from breeding on the basis of one genetic mutation alone is often not in the best interests of the breed.
When it comes to coats and colours, far fewer breeders seem to be educated or to make the effort to understand the genetics. All too often, discussion of colours seems to be based on historical urban myths or worse, on fashion and personal prejudices. It’s such an emotive topic, as we have seen with numerous discussions over many months about Colour Not Recognised (CNR) and Non Breed Standard (NBS) colours.
What I find really fascinating is the rate at which the science underpinning the genetics of coats and colours is developing. Some of the research is being enabled by Citizen Science where dog owners’ contributions help research teams by providing DNA samples and photographs. One such study published last year resulted in an improved understanding of one of the earliest coat colour mutations, designated as ancient red (eA). This genotype is associated with “domino” in Alaskan Malamute and other Spitz breeds, “grizzle” in Chihuahuas and “pied” in Beagles.
Another new paper (2021) explains variations in the PMEL gene which causes dapple (merle) in Dachshunds. A previous study of this gene in Australian Shepherds had correlated the length of an insertion into the PMEL gene with 4 broad phenotype clusters of merle, described as “cryptic”, “atypical”, “classic” and “harlequin”. This new paper reports on a similar study in Dachshunds and identified numerous cases of “hidden” merle in light red dogs. The paper suggests that the frequent identification of cryptic, hidden and mosaic variants of the merle pattern makes DNA testing critical to avoid producing puppies with serious health problems. Double-merles are known to be at risk of deafness, blindness and microphthalmia (small eyes) and are banned from registration by the KC.
Time for cocoa?
Another lesson I learned recently was the existence of a gene associated with the brown (liver/chocolate) colour. Variants of the B locus are the most common cause of the brown coat colour, with 5 known mutations of the TYRP1 gene that explain the majority of dogs with brown coats and noses. One exception has been the brown or chocolate French Bulldog which, when tested, is found to be BB (i.e. not chocolate as normally expressed). Recent research (2020) has identified a mutation on the HPS3 gene associated with brown in FBs and which has been called “cocoa”, for which a DNA test is now available. 2 recessive copies of this mutation (co/co) are required for the dog to be brown/chocolate.
5, not 4, basic coat colour patterns
The most recent paper I have been reading was published by Dannika Bannasch and her colleagues at the University of Bern. Professor Bannasch and one of her collaborators, Prof. Tosso Leeb, have both been winners of the prestigious International Canine Health Awards. The study clarified how coat colours and patterns are genetically controlled but also discovered that the light coat colour in many modern dog breeds is due to a mutation that originated in an extinct species more than 2 million years ago.
Dogs can make 2 types of pigment; black (eumelanin) and yellow (pheomelanin). Production of these 2 pigments in the right place on a dog’s body results in very different coat colours and patterns. The agouti signalling protein (ASIP) is the main switch for the production of yellow. Without ASIP, black pigment is formed.
In addition, there are 2 “promoters” which result in ASIP production on (a) the belly and (b) banded hairs. The study identified 2 versions of the ventral promoter and 3 versions of the hair cycle promoter, resulting in 5 possible combinations which cause different coat colour patterns in dogs. Previously, it had been thought that there were only 4 basic patterns.
Image source: https://www.nature.com/articles/s41559-021-01524-x.pdf
Within each of these 5 pattern types, there may be further variation due to other factors such as the position of the boundary between red and black areas, the shade of red (from dark to nearly white) and the presence of a black facial mask or white spotting caused by genes other than ASIP.
Prof. Bannasch said: ‘While we think about all this variation in coat colour among dogs, some of it happened long before ‘dogs’ were dogs. The genetics turn out to be a lot more interesting because they tell us something about canid evolution.’
Learning from history
While a lot of the science and understanding of the genetics may be new, many breeds have a wealth of historical information on coats, colours and patterns. Much of that is held in Kennel Club registries or breed archives. These should be essential resources to inform any discussion about colours that can or cannot exist legitimately in any breed. I am aware of a study in one breed, looking at dogs from the early part of the last century, which clearly shows that colours that are not currently fashionable were around over 100 years ago.
The fact that some of these colours are associated with recessive mutations should make it unsurprising that those colours can still crop up and be bred today. There are plenty of examples of breeds where breeders have specifically selected for a particular colour or pattern and that’s not something new. We should be very careful not to forget our breeds’ histories and their genetic origins, and not fall into the trap of altering Breed Standards simply on the basis of what is or isn’t fashionable today. That, of course, applies to conformation as well as to colours!
Remember, prejudice is a great time-saver; it enables you to form opinions without having to gather the facts.
At a recent meeting, the Kennel Club Breed Standards Committee discussed feedback from breed clubs on proposed changes to the Dachshund Breed Standard. The amendments are effective from 1 September 2021, and they are published in the Kennel Club Journal and on the KC website.
You can read the full Breed Standard here.
The changes (underlined) are as follows:
General Appearance Moderately long in proportion to height, with no exaggeration. Compact, well-muscled body, with enough ground clearance, not less than one quarter of the height at the withers, to allow free movement. Height at the withers should be half the length of the body, measured from breastbone to the rear of thigh. Bold, defiant carriage of head and intelligent expression.
Characteristics Intelligent, lively, courageous to the point of rashness, obedient. Especially suited to going to ground because of low build, very strong forequarters and forelegs. Long, strong jaw, and immense power of bite and hold. Excellent nose, persevering hunter and tracker. Essential that functional build, size and proportions ensure working ability.
Head and Skull Long, appearing conical when seen from above; viewed from the side, tapering uniformly to tip of nose. Skull only slightly arched. Neither too broad nor too narrow, sloping gradually without prominent stop into slightly arched muzzle. Length from tip of nose to eyes equal to length from eyes to occiput. In Wire haired, particularly, ridges over eyes strongly
prominent, giving appearance of slightly broader skull. Lips closely fitting, neatly covering lower jaw.
Forequarters Shoulder blades long, broad, and placed firmly and obliquely (45 degrees to the horizontal) upon robust rib cage. Upper arm the same length as shoulder blade, set at 90 degrees to it, very strong, and covered with hard, supple muscles. Upper arm lies close to ribs, but able to move freely. Forearm short and strong in bone, inclining inwards, forming a
slight crook which fits neatly around the chest. When seen in profile, forearm moderately straight, must not bend forward or knuckle over, which indicates unsoundness. Correctly placed foreleg should cover the lowest point of the keel, with ground clearance never less than one quarter of the height at the withers.
Body Moderately long and full muscled. Sloping shoulders, back reasonably level, blending harmoniously between withers and slightly arched loin. Withers and quarters of approximately the same height. Loin short and strong. Breast bone strong, and so prominent that a depression appears on either side of it in front. When viewed from front, thorax full and oval; when viewed from the side or above, full volumed, so allowing by its ample capacity complete development of heart and lungs. Ribs extending well back with good length of sternum. Underline gradually merging into line of abdomen. Body sufficiently clear of ground to allow free movement.
Hindquarters Rump full, broad and strong, pliant muscles. Croup long, full, robustly muscled, only slightly sloping towards tail. Pelvis strong, set obliquely and not too short. Upper thigh set at right angles to pelvis, strong and of good length. Lower thigh short, set at right angles to upper thigh and well-muscled. Viewed from the rear, hind legs straight and parallel, neither close
nor wide apart.
Tail Continues line of spine, but slightly curved, without kink or twist, not carried above the topline, or touching ground when at rest.
Faults Any departure from the foregoing points, including desired body condition, should be considered a fault and the seriousness with which the fault should be regarded should be in exact proportion to its degree and its effect upon the health and welfare of the dog as well as its ability to perform its traditional work.
You can read the full Breed Standard here.
I have written previously about the International Partnership for Dogs’ paper “A call for respectful dialogue, collaboration, and collective actions”, published in 2020. In it, IPFD Chief Executive Brenda Bonnett described the polarised positions of different groups on the issue of pedigree dog health (and welfare). She discussed how, at each end of the spectrum, people are expressing views diametrically opposed to each other, for example ranging from “some breeds should be banned”, through to “it’s a war against pedigree dogs and we need to fight back”. Somewhere (in the middle?) there are people trying to work hard, using available data and sound science, to find ways to address the complex problems that we find in the world of pedigree dogs. Those problems aren’t just health matters, some of which can be addressed with scientific, genetic and veterinary knowledge. Some of the most difficult challenges are the behavioural change ones; how to get breeders, buyers, vets, judges and others to behave in ways that work to the benefit of dog health.
Clickbait programme title
Last year, when it was announced that a TV production company would be making a film for the online channel BBC3, there was outrage. The cause of that outrage was the clickbait working title “Will my puppies make me rich?”. Unusually, in this case, the outrage was equally distributed across the spectrum of those in the dog world, including those campaigning for improved pedigree dog health and, of course, the show world. Stories appeared in the canine press as well as national press, all expressing horror at the suggestion that a film could be made that would encourage people into breeding dogs purely for profit. In addition to letters being written to the producers and BBC3 Controller, there was also an online petition (if I recall correctly).
As you might expect, the Kennel Club’s public affairs team, along with other dog welfare charities, contacted the producers to offer advice and to try to steer the programme makers in a less sensational direction. I was soon made aware that my breed, Dachshunds, were to be featured in the film. At that time, the angle was young people breeding Dachshunds and young people buying them. Clearly, that had the potential to add to our woes in the breed, particularly for Mini Smooths where registrations have grown from 3450 in 2015 to 10369 last year and no sign of their popularity declining.
On behalf of our Breed Council, I contacted the producers to offer our help with information on the breed and to try to engage with them in a way that might lead to a storyline that might be less damaging for our breed. I suspect that our emails came as something of a surprise to them as the tone was one of collaboration, rather than outrage and criticism. Consequently, I had several conversations with them and they were really interested in finding out more about breeder and buyer motivations for Dachshunds, as well as the health and ownership aspects of the breed. BBC3’s target audience is younger people (than your average dog club committee member!) and I was able to direct them to some younger breeders as well as representatives of our breed rescues.
Luckily for us, one of our Health Committee is a breeder, exhibitor and veterinary student and she ticked lots of boxes for the producers. I was really pleased to hear when they confirmed that they would be interviewing Bryony and thought she was an ideal person to include in the programme, being young, knowledgeable and undergoing vet training. Win win for all of us.
The programme hit our screens (albeit online) in mid-July but, disappointingly, I heard just before its launch that Bryony’s interview had been cut. While filming, they had discovered various canine fertility clinics and a more “juicy” storyline of illegal practices when they went undercover.
So, sadly, we didn’t get the opportunity to see a member of our Health Committee sharing her knowledge on Dachshund breeding. However, a member of the Red Foundation (Dachshund Rescue) did get a few minutes of airtime and managed to get across to the young couple looking to buy a Dachshund some key messages about doing their research and the hard work needed to train a puppy. The presenter, a vet, briefly discussed our breed’s major health issue, Intervertebral Disc Disease but it was disappointing that there was nothing stronger about this from a buyer and owner’s perspective. It would have been brilliant if somebody could have mentioned our IVDD Screening Programme which was formally adopted by the KC earlier this year.
In the end, the young couple who originally wanted to get a Dachshund puppy took on an RSPCA foster puppy. We didn’t get to see whether it was a breed or a crossbreed, for legal reasons associated with a pending investigation and potential court case. Was that a good outcome for our breed? Possibly. It was one less buyer who had perhaps realised the breed was not the one for them and their lifestyle. Whether the messaging in the film was strong enough for other young buyers to recognise the responsibilities that go with buying a Dachshund, I doubt. Thankfully, we didn’t get to see anyone breeding Dachshunds and, some of the breeders we did see, made it clear how easy it is for things to go wrong and for it to become a very expensive exercise. Overall, I’m not convinced the programme will have any impact on the breeding of Dachshunds or their popularity.
I do think the programme was constructive and another helpful insight into some of the things going on in the world of dog breeding and buying. Probably most importantly, it was aimed at a young audience, presented by a young vet and included young breeders and buyers. That demographic is typically influenced by their peers so that fact it wasn’t shown on terrestrial TV and seen by us older folk, doesn’t matter that much.
The learning point for me is that collaboration works and is likely to be a more constructive approach than mere outrage. It’s far easier to share facts and evidence if you start from the perspective of there’s an opportunity to work together to improve things. Outrage rarely enables a conversation based on science and evidence, and often starts with the assumption that the other party is “wrong” and you are “right”.
“There is nothing more foolish, nothing more given to outrage than a useless mob.”