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International Partnership for Dogs - Enhancing Dog Health, Well-Being, and Welfare - Join Us.

Aimee Llewellyn-Zaidi

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About Aimee Llewellyn-Zaidi

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    Stellar Member

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  • Skype
    aimee llewellyn-zaidi

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  • Region
    North America
  • Location
  • Country
  • Current Affiliation
  • Position / Title
    Project Director Harmonization Inititative
  • Interests
    Dog Health
  • Academic Credentials
    Bachelors degree
  • Expertise/Proficiencies
    Dog Health/Veterinary Medicine
  • Specific Breed(s) of Interest
    Pembroke Welsh Corgi
  • Breed Club Rep; Board Member or Breeding/ Health Committee member
  • Attended an International Dog Health Workshop
  • Theme attended at 3rd IDHW in Paris
    IPFD Harmonization of Genetic Testing for Dogs

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  1. HGTD This Week, 7 Aug 2020: Canine Crime Scene Investigators When we think about genetic testing, we often focus on how it can be a tool to improve health and welfare - generally centered around breeding for health or finding more about the health or potential health risks for an individual dog. Knowing about health risks that are especially relevant to specific breeds or dog types makes testing even more powerful in helping reduce risks of disease or undesirable traits (see Breed Relevancy Ratings). Most commonly, genetic screening and diagnostic testing focuses on: disease tests, breed estimation tests, diagnostics, parentage/paternity, inbreeding estimations, etc. (search for genetic tests and providers, here). This week, I received a very interesting question from a user, who wanted to know if genetic testing could help them with a dog attack incident. Their dog had been bitten, and they wanted to know if genetic testing could be used to identify the attacking dog, using saliva from the collar. The short answer is… probably not, but maybe not for the reasons you think. In principle, it should be possible to extract DNA from saliva from a surface like a dog collar. The challenge is that, even with a genetic profile: You won’t know if the profile is from the attacking dog, or some other dog your pet has met at a dog park, on a walk, at the vet’s… Without a profile of a known dog to compare it to, you won’t be able to identify the dog (and therefore owner) This is because dogs are generally not required to be registered with a genetic fingerprint. So, unless you know the dog and the dog's owners, it is impossible to confirm identification using DNA alone - much like the challenges in human criminal DNA identification. This brings us around to thinking about some of the more forensic things genetic testing can, and cannot do: Can do: Act as a permanent identification for an individual dog (genetic profiling) Determine parentage, when relatives’ profiles are known for comparison Comment on the risks of specific genetic mutations for specific diseases (disease/phene screening testing) Aid in the diagnosis of specific risks/diseases (only with diagnostic testing as opposed to screening testing) Cannot do: Identify a specific dog, without that dog’s genetic information/owner being on an accessible registration list “Prove” that a dog is responsible for an action, without other evidence Be used to make “permanent” decisions (e.g. euthanasia) on its own, without other veterinary health information, and welfare considerations While there are plenty of incredibly useful things genetic testing can do, beyond genetic screening tests, it is really important to consider why you are testing and how you are going to use any test results. As with any tool, genetic testing has its limitations. Photos: pixabay (cover photo): G. Fring (image) via Pexels
  2. The Harmonization of Genetic Testing for Dogs (HGTD) project work includes harmonizing genetic test information across many different boundaries. That can be as simple as adding consistency to nomenclature from around the world, or as challenging as cataloging test information and research from dozens of different international sources. With so much variation in how tests are developed, and how they are released to the public, a big part of my work is ensuring that phene names we publish on HGTD are consistent, accurate, and representative of whatever genetic test a person is seeking out. In most cases, a test name refers to a recognized clinical disease. In essence, 1 phene + 1 breed = 1 test name. However, many tests are relevant to more than one breed, because many breeds share ancestors at some point. Even more often, test names (because remember, they’re based on the clinical disease) are very similar or even the same, within the same breed. Confused yet? A perfect example of this is the disease Progressive Retinal Atrophy (PRA). Progressive retinal atrophy refers to the clinical description (symptoms, essentially) of what is actually a group of inherited retinal diseases. During the progression of the disease, the retina of the eye atrophies (degenerates) over time, eventually leading to complete blindness. The main differences between the various PRAs being the age of disease onset, and how quickly the disease progresses. There are currently 20+ different forms of PRA on HGTD – which can be breed-specific, relevant for a few breeds, or more than one form of PRA applying to the same breed. 15 years ago, there was only one “PRA” test! As 20+ new mutations causing PRA where discovered over many years, the naming of the PRAs in a distinctive and unique way became more challenging. Researchers had a variety of ways of naming, as there is currently no international phene naming standard. Generally, they started falling into a few categories: Breed-focused, e.g. PRA “Italian Greyhound” Inheritance-focused, e.g. PRA “X-linked” Varietal, e.g. PRA “Type B” Mutation, e.g. PRA “rcd-4”. When you start getting more than a few similar test names it can be easy to lose confidence which test name represents a specific gene and mutation. There is a very real risk of selecting the wrong test for a specific mutation. HGTD tackles this confusion in a few ways, and it is one of the advantages in using a resource that catalogues all phenes. Using HGTD, you can see the genetic tests that are breed-specific when searching by breed, but you can also double-check yourself using a number of different referencing points: - The OMIA number - Gene and mutation(s) associated with the test name - Synonyms/related terms - Clinical descriptions - Breed-specific publications - Researched breeds references For most dog owners and veterinary clinicians, the clinical descriptions, breed-specific publications and researched breeds references are particularly useful. This is an ideal way to ensure that the breed or breeds you’re interested in not only have this test available to them, but that there is some research and relevance associated with that specific test and specific breed. Researchers, genetic advisors, and clinicians will find benefit in cross-referencing with the OMIA number, and/or double-checking that the specific mutation in the specific gene is associated with the phene/disease test that they are interested in. HGTD tries to provide a bit of a confidence short-cut through our development of Breed Relevance Ratings (BRR). Still a work in progress, BRRs are a good way of indicating the relevance of a specific test for a specific breed/type. These can help take some of the guess-work out of what tests might be important for your dog, and/or how the results should be considered as part of breeding strategies. When in doubt about which phene you are trying to find a test for, using the generic phenes search provides you with centralized information to guide you, and help you to make accurate and informed choices. photo with thanks to Lum3n via
  3. The continued review of breed-specific tests for assigning relevancy ratings, and ongoing discussions with genetic experts has led to a refinement of the breed relevancy ratings (please see: BRR) . To better accommodate the spectrum of genetic test validation, we’ve added a new orange BRR. The orange BRR indicates where all current available evidence has been reviewed, but the relevancy is inconclusive. It could be that a mutation is detectable in a specific breed, but that there is no evidence that this correlates with clinical development of the disease/phene. It could also be that there is evidence that testing for the mutation does not correlate with the clinical development of the disease. One example is the wire-fox terrier and degenerative myelopathy. Despite research indicating a 94% mutation frequency (Zeng et. al, 2014) - meaning that practically every dog the researchers tested for SOD 1 mutation for degenerative myelopathy had 2 copies of the mutation - the development of the clinical signs of DM for the breed hasn't yet been reported. In practical terms, this means that while you may still wish to test for the mutation in your breed, or it may be included on any testing panels, there isn’t currently a good reason to prioritize test results in any breeding or other health decisions. Unnecessarily excluding a dog from breeding based on irrelevant or inconclusive test results can be, on balance, very damaging to the genetic diversity of the breed. Thinking back to DM and the wire-fox terrier, this would mean that if breeding decisions were made on DM test results alone, you'd be excluding the vast majority of the dog population where the test does not for this breed seem to predict clinical disease. For any orange BRR, it would be worth looking at the test’s breed-specific information in more detail (search for test information HERE) to help put any potential test results into perspective. Wherever possible, the phenes database includes comments directly from the researchers and original test developers. As always, talk to your genetic test provider and/or veterinary scientist if you are concerned about genetic test results. And, if you missed it the first time around, you may want to check out the previous blog including updated breed relevancy ratings, and breed-specific publications, HERE. References: Zeng R., Coates J.R., Johnson G.C., Hansen L., Awano T., Kolicheski A., Ivansson E., Perloski M., Lindblad-Toh K., O'Brien D.P., Guo J., Katz M.L., Johnson G.S. (2014) Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy. J Vet Intern Med 28: 515-521 Photo thanks to: Engin Akyurt, via Pexels
  4. HGTD, and IPFD, were thrilled to be able to send our very best wishes and acknowledgements to Prof Frank Nicholas, on the 25th Anniversary of the Online Mendelian Inheritance in Animals (OMIA) resource. (see Brenda's Blog) Collaboration with, and integration of OMIA's information is vital for a lot of what HGTD is able to do - and fundamental to animal genetics researchers the world over. OMIA is a catalogue/compendium of inherited disorders, other (single-locus) traits, and genes in 251 animal species. OMIA is a great example of collaboration in action - authored by Professor Frank Nicholas of the University of Sydney, Australia, but with expert input and help from many people over the years. For HGTD, it has provided a standardized, unique identifier number for the hundreds of phenes we list on the database, as well as additional information curated by Prof Nicholas and his contributors over the years. The OMIA number is something that can be recognized by genetic researchers across all countries, as a universal reference. It is a resource used by so many HGTD stakeholders, and accepted as something that just... feels like it has always existed. While it is hard to imagine creating HGTD and other resources without OMIA in place, it is easy to take fundamental resources like OMIA for granted that they will exist forever, always expanding, and up to date, without thinking about the challenges required to create them, and the perseverance to keep them going through the years. This concept was in my mind this week as I tackled adding in dozens of new breed-specific research publications and references, as well as updating OMIA references to phenes in the HGTD database. As an integral part of HGTD's principle of transparency in reporting, providing up to date breed-specific and breed-relevant publications from peer-reviewed journals, as well as additional input from geneticists and researchers is a critical, but also a challenging and time-consuming aspect of maintaining the HGTD databases. It requires regular review of OMIA, as new OMIA numbers are generated for new canine single-locus traits, collaboration with researchers who can provide important journal references, and the time and expertise to write and reference technically/clinically accurate phene descriptions, with language and wording that is accessible and clear to a wide audience. This is part of why it was so important from the beginning of the Phenes database development, that we worked to include gene and mutation information for each phene, at a breed-specific as well as testing level. And, why we offer 2 descriptions for as many phenes as possible: a more technical/clinical description for our veterinary and research users, as well as a more real-life experience summary for dog owners and breeders. It might be us who are putting this information in place, but it is only with the collaboration, and expert input from researchers and experts that we are able to have such a robust and responsive resource. Thinking back to our friends at OMIA, I wonder (hope), that IPFD and the HGTD databases will in time be seen as a standard resource and reference for our diverse community, and be celebrating such an auspicious anniversary as OMIA, in the future. With continued thanks, and appreciation to: (puppy photo thanks to Mateja Lemic via Pexels)
  5. HGTD Update: 12 May 2020 Since the last blog, we’ve had additional expert review of many Breed Relevancy Ratings (BRRs) – particular in commonly tested eye conditions, and ataxias. As we are growing our expert out-reach for input into BRRs, we are pleased to note that there is consensus between experts self-reviewing their tests as well as peer-reviewing each other. This adds reassurance to us that the current BRR estimation of combining what we can learn from research publications, phene discoverer’s expert opinions, and informal peer-review between geneticists, is working. So far, we have been able to estimate BRRs for more than 1167+ of the 2684 possible breed-specific test combinations. To support BRRs, we are also adding in additional and newly published breed-specific publications and other references in the Breed Specific Information area of the generic phenes. You can find any breed-specific publications or other resources via the "Search by Test/Disease", under the Researched Breeds section. One example is for Spinocerebellar Ataxia, CAPN1-related – where you can see for 3 breeds, there are links to further information, breeding strategies, and researcher comments and publications: Check out in the HGTD by searching on Ataxia...CAPN1 HERE or go directly to the OUTPUT HERE. Our lists of peer-reviewed publications and referenes are growing by the minute. As a reminder, in the Test/Disease (Phenes) section, you can find the original mutation discovery paper (where known) as well as a selection of other relevant references. As this expands, we are exploring other ways to capture this information to be able to share it in a useful way for you. If you are a researcher, or know of a publication we don’t currently list - especially any breed-specific references, please let us know! We try to include the reference as well as links to open-access resources or a pdf, whenever possible. You can email me at Terrier image by P. Kirsi, from Pexels
  6. We get questions about how we ensure the quality of the information available on HGTD. It can actually be very challenging, and we rely on having good processes, and collaboration when developing content. To meet the IPFD principle of transparency, we are starting a series of blogs to describe how we manage this resource. We hope to then provide a regular news feed on HGTD developments and changes, to give you all an insight into this work. To get started, here is a little insight into running and maintaining HGTD. How do new genetic test providers (GTPs) join? GTPs reach HGTD as part of the wider IPFD network, research conference outreach, and direct contact. Leadership Sponsors, Sponsors and Participants include commercial providers, non-profits, and large and smaller research groups. Donations from our participants and sponsors to help off-set some of the running costs and development of HGTD. All data received is checked for accuracy, and legitimacy. GTPs who offer ISAG, or other accreditation are checked. All testing information is reviewed to standardize nomenclature and catch any errors or mis-translations. Regular reviews of all databases (GTP, Tests, and Phenes) ensure changes in the industry or emerging research is captured, and disseminated. Quick, and accurate publication is our goal. We aim to have new GTP information, and updates added within 48 hours, but this is often much faster. Publication allows for peer-review, and is key to an open and transparent system. What does the general running work look like? As our GTPs are international, we harmonize across different languages, nomenclature, and national/regional accreditations. We also collaborate with groups such as OMIA and ISAG to improve consistency and harmonization across the industry. At any given time, we are the caretakers of information on dozens of GTPs, hundreds of phenes, and thousands of lines of associated data. All of which have to be checked against independent sources, and regularly reviewed to reflect the fast-paced changes in the genetic testing world. What if I want to help? Use HGTD. The most important way to help is to use HGTD, and tell your friends about how helpful you find it. If we can improve it, let us know. Recommend, Donate! If you have a favorite GTP and they aren’t participating, get in contact with us to help us encourage them to become a part of HGTD. If you have the ability to donate, even a small amount, you can choose to direct it towards IPFD, or directly to HGTD. Either way, you will be supporting us in building resources to improve dog health and welfare. Be part of our Collaboration Community. You can send questions about tests, research papers, experience that your breed club has had, or other feedback to us. We work hard to respond quickly, and while we can’t include everything, we always aim to integrate robust new information. Further information/References: Sponsors, Participant, and databases can be viewed in the Genetic Testing section of IPFD:
  7. Is COVID-time the Right Time to Kon Mari Your Genetic Testing Plans? a blog by Aimee Llewellyn-Zaidi, MSc; Project Director of the IPFD Harmonization of Genetic Testing for Dogs (HGTD) initiative. “People around the world have been drawn to this philosophy not only due to its effectiveness, but also because it places great importance on being mindful, introspective and forward-looking.” -Marie Kondo, Founder of the Kon Mari method. If you’ve already, like so many of us, used the Kon Mari de-cluttering method of “sparking joy” and being “mindful, introspective, and forward-looking” in cleaning out your garage, re-organizing your closets, and finally hanging those shelves, then it is no surprise you might be feeling like your breeding plans could do with a little refresh and reorganize. Sometimes in life, it is really valuable to assess our habits and old ways to see if they still “spark joy” or in this case, are still working effectively to achieve breeding goals. With many breeder organizations encouraging caution when planning litters, or recommending delaying mating plans, (click here) this could be the perfect time to reflect on dog breeding, and be mindful, introspective, and forward-looking with genetic testing! Being Mindful: Identifying what you want to achieve with genetic testing is critical in ensuring that the tests you use are fit for your purpose, and that you are making informed breeding decisions. There are a number of potential goals: confirming a litter’s parentage, using disease/trait test results to guide breeding plans to reduce risks or promote desirable characteristics, or providing a genetic permanent identification for your breeding dogs or puppies. Genetic tests fall into a few different types. For breeders, you might mainly be interested in parentage testing (providing confirmation of a puppy’s parents), permanent identification (a panel of markers that provide a unique genetic “fingerprint” that cannot be removed), and disease/trait tests (individual tests, or packages of tests that give risk or inheritance information on a wide-variety of inherited diseases and traits, such as coat type or color.) There are also genetic tests that are diagnostic or used to assess clinical risks, and increasingly, tests that investigate breed diversity or breed determination. What types of tests you use is determined by what your goals are – it is easy to confuse testing options, and you don’t want to order a parentage test thinking you’re getting a permanent ID, or health information. If you have a number of goals, many genetic test providers offer packages of tests, or reduced costs when purchasing multiple tests and test-types. When choosing disease or trait tests for your breed, you can start by searching the breed-specific tests listed on HGTD. The HGTD project has recently launched Breed Relevance Ratings (BRR) as a guide to what research and evidence (or not) supports available breed-specific tests. BRR uses a “traffic light” system to indicate what we currently know about a specific test for a specific breed. You can use this information in a number of ways, but it is useful when assessing how well-understood a specific disease test might be in your breed. These ratings are dynamic, and will change over time as more information becomes available. As HGTD also provides information on each disease/trait test, you can see the original research for many tests, and use this in conjunction with any information from your test providers to better interpret and understand test results. This is especially valuable when balancing a number of different test results in your dogs, with other breeding considerations. As more breed-specific tests become available, more dogs will of course have a variety low/medium and high-risk results. There is no such thing as a genetically “perfect” dog! We have recently heard from a number of kennel clubs who are either already starting to incorporate parentage testing and genetic permanent identification into their databases, or making plans for this in the future. It can be really reassuring to both breeders and pet homes to have genetic confirmation of parentage – and if you have a genetic permanent identification, it can’t get “lost”, be removed, or be changed. When choosing a parentage or ID test, look for ISAG accreditation to ensure that your test results are interpretable internationally. The ISAG panel used by many GTPs is considered a “gold standard.” They have recently released a new ISAG 2020 panel for SNP (single-nucleotide polymorphism) testing, in addition to the 2004, and 2006 STR (short-tandem repeat/microsatellite) panels. Once you’ve decided on your goals, and what test(s) you might want to achieve them, who is your best test provider? The Search by GTP/Lab option lets you review test providers, including what tests they offer, any accreditation, and special expertise they have. Many genetic test providers are able to perform and provide test results completely remotely and only require you to use a home kit to test your dogs. Keep in mind that during the COVID-19 pandemic that any tests that require a blood sample, or being sampled by a veterinary professional may not be recommended at this time. Other considerations for choosing a test provider might be which GTPs are “accepted” by your kennel club, what reports look like and any after-care, and what types of tests are offered. (click here) Genetic test providers are increasingly offering breed-specific “panel” tests, which can be really cost effective. It is worth checking to ensure the panel they are offering includes all the tests you’re interested in, or be ready to buy additional tests. In addition, it is recommended that if you are using a panel test, you take your time when reading breed-specific reports. Some panel test providers like to provide all results, irrespective if the test is yet known to be breed-relevant, and others prefer to report only results that are known or suspected to be relevant. Responsible genetic test providers have clear risk information in their reports, whichever style they use. There is a risk that making breeding decisions based on results from irrelevant tests (e.g. where the mutation in your breed has no known correlation with disease risk) could lead to an unnecessary reduction in genetic diversity, false-confidence in disease risk reduction, or welfare issues if a dog’s results are mis-interpreted as a diagnosis for a disease they will never have symptoms of. Introspective/Self-reflective: what to do when you get your test results? Unless you are only interested in parentage or permanent ID, you will almost certainly have more than one genetic disease/trait result to consider in your breeding plans. You will also have other aims outside of genetic testing such as conformation, behavior, and clinical test results, as well as, perhaps the health and longevity of dogs related to the breeding pair. There are many resources that can provide a wide-variety of breeding advice for your breed. (click here) It can be helpful to divide the genetic test information on the dam and sire into a number of categories – what test results do I have? Which are high, medium or low risk? Any that are no risk at all? And, with what I know about the disease test results, how important are they to the health and welfare of my dogs when balanced against other concerns in my breed? Part of what makes genetic tests such a valuable tool, is that you are able to make fairly confident decisions when it comes to paring dogs to reduce or eliminate disease risk, i.e. it may be strongest for rejecting certain pairings. In other words, after eliminating certain potential mates due to genetic incompatibility, you can go on to look at the pros/cons, benefits and risks of the options remaining. Even if genetic testing offers some solid information, do not get lulled into making false assumptions about the over-all suitability of mating pairs or the health of a dog or its progeny (see: Health tested does not mean healthy). Genetic testing is a core breeding tool, but breeders must not get complacent or allow the popularity, simplicity and ‘high science’ of using ‘DNA’ results to distract them from tackling the greater challenges of informed breeding decisions, e.g. prioritizing health, conformation or behavioral traits that don’t come with genetic tests. No one analytic tool or test can replace the broad knowledge and experience that is needed in order to adequately consider the big picture for breeding decisions. Take time to reflect back to your original goals, with your gained insight into the tests and results…“I want to eliminate this mutation from my breeding plans, but doing it slowly will be better for my breed as a whole” vs “this is a really rare disease with high welfare-impact, so trying to get it out of the breeding population quickly is important” vs “I have 20 important considerations, and this genetic test is only one of them.” This is a really useful way to keep your eye on the end-goals, use genetic tests to help hone your breeding plans, and focus your energy. Forward looking Genetic testing technology, including what tests are available and advances in interpretation and advice (as well as confusion!) are only going to increase over time. Most kennel and breed clubs are already including genetic test results in breed records to some extent , and as the genetic technology advances and becomes more accessible, the future is likely to include genetic testing as standard practice, especially when it comes to registration – with parentage testing, and/or health testing regulations. Being informed now will help you to be prepared for the future, and improve your breeding plans moving forward. As a final note, a key part of the Kon Mari method of organizing includes the concept of “thank you, and good bye.” This philosophy allows you to reflect on what worked in the past, be okay with it, and also say good bye to move onto better things for your future. This is the same in dog breeding – you might have tried something in the past that doesn’t work now, or you might have had something that worked okay but could be better. Or you may have old habits and attitudes that could be dropped. Say goodbye, and move on. Learn the lessons from the past experiences, but only take with you when moving into the future, what is right for you and your breeding strategies now and moving forward. References: Kondo, Marie. The Life-Changing Magic of Tidying Up: The Japanese Art of Decluttering and Organizing
  8. A recent article provided by the Golden Retriever Club of America, Golden Retriever Health and Genetics Highlight: Neuronal Ceroid Lipofuscinosis in Golden Retrievers, by Ann Hubbs and Ron Rubrecht,, discussed the challenges faced in Fall 2018, by a breeder who had unsuspectingly bred a litter of puppies from two carriers of neuronal ceroid lipofuscinosis (NCL 5) – a devastating neurological disease considered rare in the breed. While a DNA test existed, most Golden Retriever owners wouldn’t be aware of the condition, let alone testing options. The breeder did the absolute right thing when realizing there was a problem, by working swiftly to genetically test their dogs, contacting owners, and working with the Breed Club to make other breeders aware of the risks of NCL 5. The situation for this breeder could arise for various conditions in many breeds. Inherited diseases that are generally rare in a breed are unlikely to be considered in selection by breeders. It could be that a genetic test isn’t available, or that it is not a priority for testing compared to more common inherited risks, or, increasingly, it might be a well-known condition in a breed in one country, but less known internationally. This is understandable, especially considering that the risks of an inherited disease in the breed as a whole, is not necessarily reflective of the risks for the breeding population. (Fig 1.) The dogs who are left intact and used in breeding, particularly by Show/Field breeders, is only a tiny percentage of the dogs making up the whole breed. It is easy to imagine how a few popular dogs who happen to be genetic carriers [See 'carrier' defined in glossary for AR inheritance] for a rare disease like NCL 5, could shift the risks of inheritance within a few generations without anyone realizing that there is a problem at all. For NCL 5 in the Golden Retrievers, fortunately, there is a genetic test available that can identify those dogs who are clear, carrier, or genetically affected for the condition. This will be especially valuable for those specific breeding lines within which the disease has occurred or is suspected. However, it is important to put into perspective how concerning NCL 5 is for the breed, relative to other important factors, in order to be sure that breeding decisions are made sensibly across all the considerations when making breeding plans. Currently, within a US population tested by Embark, only <1% of the dogs tested are carriers of the NCL 5 mutation. This is known as carrier frequency. At this level of carrier frequency, breeders can develop breeding plans that include clear and carrier tested dogs, to efficiently breed away from the mutation risk, without causing a genetic bottleneck or producing genetically affected puppies. It is important for a disease like NCL, which is still likely to be clinically rare in the breed, to breed away steadily to balance any other inherited risks, as well as allowing selection for positive characteristics. Avoiding a knee-jerk reaction will help to ensure that future generations have a greater variety of breeding lines to choose from. IPFD is continuing to develop plans for the Health Strategies Database for Dogs that aims to catalog all conditions that are being addressed by those designing breed-specific health programs around the world, especially kennel and breed clubs. See “Get a GRIHP on Breed Health” - Breed Health Strategies Presentation given by Brenda Bonnett at the 4th International Dog Health Workshop. What’s a GRIHP? Globally Relevant Integrated Health Profile... Additional information HGTD has a number of resources to help breeders and owners make informed decisions on genetic testing. You can search for genetic test providers, breed-specific diseases, and more information on tests/diseases HERE. Recently, HGTD has launched relevancy ratings for many of the tests that the participating genetic test providers are offering. Using data and information from researchers, test providers, kennel and breed clubs, and veterinary scientists, relevancy ratings are a way of indicating all of the currently known research material on a specific test for a specific breed. Additional information University of Missouri - Golden NCL: The Orthopedic Foundation for Animals records the NCL5 test results for Goldens - search at Also see further information on Neuronal Ceroid Lipofuscinosis at OFA: Research The NCL 5 mutation origin paper: Melville, SA., Wilson, CL., Chiang, CS., Studdert, VP., Lingaas, F., Wilton, AN. : A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 86:287-94, 2005. Pubmed reference: 16033706. DOI: 10.1016/j.ygeno.2005.06.005. 2019 Villani, N.A., Bullock, G., Michaels, J.R., Yamato, O., O'Brien, D.P., Mhlanga-Mutangadura, T., Johnson, G.S., Katz, M.L. : A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs. Mol Genet Metab 127:107-115, 2019. Pubmed reference: 31101435. DOI: 10.1016/j.ymgme.2019.04.003. 2017 Katz, M.L., Rustad, E., Robinson, G.O., Whiting, R.E.H., Student, J.T., Coates, J.R., Narfstrom, K. : Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions. Neurobiol Dis :, 2017. Pubmed reference: 28860089. DOI: 10.1016/j.nbd.2017.08.017. 2016 Kolicheski, A., Johnson, G.S., O'Brien, D.P., Mhlanga-Mutangadura, T., Gilliam, D., Guo, J., Anderson-Sieg, T.D., Schnabel, R.D., Taylor, J.F., Lebowitz, A., Swanson, B., Hicks, D., Niman, Z.E., Wininger, F.A., Carpentier, M.C., Katz, M.L. : Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. J Vet Intern Med :, 2016. Pubmed reference: 27203721. DOI: 10.1111/jvim.13971. Mizukami, K., Yabuki, A., Kohyama, M., Kushida, K., Rahman, M.M., Uddin, M.M., Sawa, M., Yamato, O. : Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling. Vet J 214:21-3, 2016. Pubmed reference: 27387721. DOI: 10.1016/j.tvjl.2016.05.004. 2015 Gilliam, D., Kolicheski, A., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Katz, M.L. : Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol Genet Metab 115:101-9, 2015. Pubmed reference: 25934231. DOI: 10.1016/j.ymgme.2015.04.001. 2013 Bond, M., Holthaus, S.M., Tammen, I., Tear, G., Russell, C. : Use of model organisms for the study of neuronal ceroid lipofuscinosis. Biochim Biophys Acta 1832:1842-65, 2013. Pubmed reference: 23338040. DOI: 10.1016/j.bbadis.2013.01.009. 2012 Mizukami, K., Kawamichi, T., Koie, H., Tamura, S., Matsunaga, S., Imamoto, S., Saito, M., Hasegawa, D., Matsuki, N., Tamahara, S., Sato, S., Yabuki, A., Chang, H.S., Yamato, O. : Neuronal ceroid lipofuscinosis in Border Collie dogs in Japan: clinical and molecular epidemiological study (2000-2011). ScientificWorldJournal 2012:383174, 2012. Pubmed reference: 22919312. 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  9. I do not know how parentage and heritable disease testing relate in terms of privacy concerns or crossovers between the 2 - if a dog tests positive for a deleterious genetic mutation (registration of litters denied) & that dog has relatives in a parentage db - can those relatives be subjected to further testing? Ann has sent through some good questions, which I think I can address: Genetic profile-based "kennel clubs" or any registration-type body are going to happen. This process would mean that your dog is registered based on their genetic profile, and any other relatives (and health tests) would be linked to them genetically creating a gene-based pedigree. Both genetic profiles and parentage have standardisation behind them, primarily through ISAG, which is international. There are challenges, potentially, when you are moving from using the 2004 to the 2006 parentage panel, but the technology is now in place that this can be overcome robustly - and of course, it only impacts the dogs that have been tested under 2004, which should be very few now. As we move forward, these tests will almost certainly be done under a SNP-chip (i.e. panel) system in any case, which can screen for 2004, 2006, any subsequent panels, as well as the profiles. Regarding privacy... It is possible, and fairly easy, to "reverse detect" any anomalies that may be occurring in your line or breeding, if you have access to an style database. It can become apparent that you might not have the dog, or breed, you think you do, if the 1st cousins or siblings start showing different DNA test results that should be possible if the parentage/etc. is correct. If, for example, I had a stud dog that was a carrier for X disease, I might not want that to become known. If I'm smart, I'll only use him on clear bitches, so that none of the puppies have problems, but it wouldn't be long before a puppy is tested as carrier, and the whole world knows my champion working dog is a carrier (i.e. Facebook), or maybe affected, etc. etc. I know this happens already, but this would start happening en masse, and as the owner of the stud dog, I have not agreed to this "medical" information being in the public domain. There is also a whole hot-bed of possibilities for suing if you have mis-represented or mis-sold a dog, very often in innocence if there was a split litter or an accidental mating where you guessed the stud. With Tom's paper on hereditarily clear, this is where of course you're talking about issues that could be 3+ generations back - either a testing error or parentage error, and if you're a careful breeder, could take a long time before discovered... usually when a litter is born with affected pups that shouldn't be possible. By then, you could have a lot of carriers out in the world that you are assuming quite reasonably are clear. Aimée Llewellyn-Zaidi
  10. Dear Aimee, Do you know if the JADD in NSDTR is simple mendelian or complex? UC Davies genetics lab is offering a test. Do you know if it is a reliable test? Do you think the test should be mandatory for NSDTR used for breeding given its early age of onset and serious impact on an affected dog's health and welfare? I would be very grateful for your comments. Kind Regards, Anon UK NSDTR Breeder Dear NSDTR Breeder, It is my understanding that the JADD (Juvenile Addison's Disease) genetic test that is available is a simple inheritance (autosomal recessive) and based on the published discovery research, it seems likely at this time that this test for the NSDTR has a 75% penetrance. According to the researchers, this means that the dog that is tested as genetically affected for JADD has a 75% risk of going on to develop the clinical signs of the disease. This is sometimes referred to autosomal-recessive, with incomplete penetrance. They don't know why 25% of genetically affected dogs don't get the disease, and they don't know for sure that this mutation is the only one associated with developing the disease. We don't yet know how "common" this disease or the risk is. This makes it difficult to know how important it is as a disease to test for. It may be worth you contacting the UK NSDTR Breed Club, as they appear to be aware of the disease, but also seem to only have noted 1 reported case in the UK. (you can find links to their club website, including health pages below) It is very possible for a disease to be more or less common in different countries. As for UC Davis, I believe they worked closely with the research team (who is also based at UC Davis) to develop the test, so while it isn't to say that other test providers aren't also doing a good job, it is a general good idea to have the test performed by the team who discovered it, or who worked closely/collaborated, as they should be familiar with any technical challenges. They are also, I believe still working with breeders in furthering research for this disease, so they may be hoping to have a better idea of prevalence in the future, and perhaps addressing that unknown 25% aspect. (see reference below) As for it being a mandatory test for breeding, I guess you mean the Kennel Club registered dogs? It is hard to know. I believe the test can have value, and that the researchers are providing most of the information needed to help with breeding decisions, but it is not as black and white as a classic autosomal recessive disease, with 100% penetrance. In an ideal world, a club might organize (or researchers might somehow support/collaborate) to test dogs randomly across the population, and get some idea of how common the mutation is. This would help them determine how to prioritize testing for this disease. If pushed, I'd probably personally test for JADD, based on the potential welfare impact, and for contributing to further research. But, not at the expense of not doing hip scoring, or tests for the more common eye conditions. I hope that helps! Take-away Points: New genetic mutations are being discovered all the time. It is important to consider why you are considering genetic testing, and to prioritize what is important for your dog’s welfare, and consider what is best for the breed/population as a whole. When a test isn’t a straightforward “simple” inheritance, it may mean that you don’t have the full-picture of the disease and its inheritance. It can still be beneficial to test – you’ll get some information about your dog, you might want to incorporate it into breeding plans, and you’ll probably be contributing to the research – especially if you are engaging with the original test developers/researchers. But, these tests will not provide any yes or no answers. If the inheritance is complex, or the test is still essentially in a research phase, you shouldn’t necessarily prioritize a new test over the conditions and concerns that are established in your breed. If you have limited resources, focusing on established DNA tests for common diseases in your breed, any clinical screening such as hips/elbows/eyes/hearts/etc., and breeding for soundness and behavior should be your first priorities. References/Further reading and resources: TWO NEW DNA BASED TESTS AVAILABLE FOR THE NSDTR Written by Danika Bannasch DVM PhD; Professor Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis Published Spring 2012 Issue-Quacker. UK-Based Breed Club, with Health resources:
  11. This report is to be viewed as a dynamic document summarizing the pre-thru-post 4th IDHW meeting activities around the Genetic Testing theme. Please note that additions and changes may occur. We will be welcoming comments and suggestions from participants in the workshop and working groups as we move forward. Please contact Aimee at
  12. Jane - I really appreciate your passion and obvious commitment to canine health. Personally, I think we start by doing everything we can to build collaborations between all the stakeholders in canine health, and to do all we can to support and encourage those who are already motivated to make positive changes. Leading by good example, and working together is a very powerful start. Every country has different laws, resources, and challenges to improve dog health, but we are trying to start by sharing the experiences of many different groups from around the world in the hopes that we can all learn from each other, and adapt tools and resources that have found to work. Unfortunately, there doesn't seem to be a one-size-fits-all approach, but we can share our successes (and failures) to help others with similar challenges. I would encourage you to look out for information after the upcoming 4th International Dog Health Workshop to see what projects are being undertaken, and information on progress since the last meeting.
  13. 2019 Lewis TW, Mellersh CS. Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. Plos One, DNA Testing - General Subject: DNA Testing Type: Research Journal/Source: peer-reviewed research publication Authors/Researchers: University, Kennel Club (IPFD Partners); HGTD Participants Recommended For: Veterinarians, Owners/Breeders This study is one of the very few to investigate the impact of DNA testing on changing a dog population's disease risk. The research looked at determining changes in frequency of disease causing mutations (how common a mutant gene is in a population) as a result of breeding-pair selection based on DNA test results. The results indicated that there has been an overall decline in disease causing mutations in the 8 diseases in 8 breeds investigated. While the paper recognises that there can be variations in how quickly a disease is reduced or eliminated (such as breed population size), it concluded that where dog breeders appear to incorporate DNA test results as part of breeding plans, there is success in decreasing the frequency of mutation. The study looked at: prcd-PRA in Labrador Retriever and Cocker Spaniel, HC in Staffordshire Bull Terriers, EIC in Labrador Retriever, PLL in Mini-Bull Terrier, EF and DE/CC in Cavalier King Charles Spaniel, PRA rcd-4 in Gordon, and Irish Setter, and spinocerebellar ataxia in Parson Russell Terrier. Within the UK at least, this represents a spectrum of large and small breeds, and generally "known" diseases within the breeds. 2019 Lewis TW, Mellersh CS. Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. Plos One, See also: Nearly 20 Years of DNA Testing – What Can We Learn? : IPFD CEO's blog post with discussion of wider implications of the study's approach and findings; based on Ian Seath's commentary (Dog-ED: Social Enterprise) with a breeder/health council perspective on the article above. IPFD Harmonization of Genetic Testing (HGTD) and search on the mentioned diseases for more information on the the condition, phenes, tests and more.
  14. This article describes the role of Genetic Test Providers (GTPs) in the Harmonization of Genetic Testing for Dogs (HGTD) initiative, provides information on who they are and why they participate, and defines processes and levels of participation for current and prospective collaborating GTPs.
  15. Thank you so much for your positive feedback Janean! We really want to help the whole dog community to access useful information, and it is really helpful to us to know when it's been a benefit!
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