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  1. 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
  2. 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)
  3. 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 aimee.llewellyn-zaidi@ipfdogs.com Terrier image by P. Kirsi, from Pexels
  4. 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: https://dogwellnet.com/ctp/
  5. In our final installment of the Digest for 2019, we are putting the spotlight on 2019 milestones, and looking forward to 2020 – which promises to be a pivotal year for IPFD and DogWellNet.com. In 2019, our fifth full year of operation, we focused our efforts on several key initiatives, including: the Harmonization of Genetic Testing for Dogs (HGTD); the 4th International Dog Health Workshop (IDHW); the continued growth of DogWellNet.com and our online community. We provided an independent voice in addressing complex and often controversial challenges, including "Hot Topics" such as canine genetics; and shared resources e.g. on health and welfare issues in brachycephalic breeds. See other interviews and news reports featuring IPFD here. As a start up non-profit five years ago, we represented a good idea, with an admirable mission. Many were enthusiastic about the concept, but perhaps unclear about the details of what could be accomplished. IPFD developed based on a strategy of 'if we build it, they will come'. The progress has been gratifying, but never fast enough for me, personally. The acknowledgement of the need for multi-stakeholder, international collaboration and action is widespread; but the realities of the dog world and the demands of local, regional, and national responsibilities of our volunteers and collaborators continues to pose challenges. As we move into a phase of enhancing stability and sustainability, we have a lot to celebrate and great potential on which to capitalize. The word cloud created from participants' comments from the 4th International Dog Health Workshop exemplifies many of our issues, goals, and efforts We have a substantial focus on science and evidence, but we never forget that the human element underpins everything we do. Our Spotlight video in December's Digest shows a softer side, reminding us that it is our love and appreciation for dogs that motivates us. People are always the strength of an organization, and now is a good time to acknowledge and thank the small but committed team of consultants who do the lion's share of work at IPFD. Please check out their profiles and read more about their efforts, below and in the Digest. The IPFD Board has gone through a transformation in 2019, with three members transitioning off the Board and five enthusiastic new Board members joining. The Board now comprises both old friends and new faces with renewed energy and purpose to help launch IPFD into the new decade, capitalizing on existing strengths and addressing ongoing challenges. Bios for the Board are here; we can all look forward to learning more about them in our 2019 Annual Report, and hearing from them in articles and blogs. In the spirit of the season, below are some highlights from 2019 – these could make for some great holiday reading! Thanks to everyone who has supported IPFD and participated in our work in 2019. And here's to a stellar 2020... as we leap ahead with great aspirations. New IPFD Contributors We welcomed two new Contributing Partners in 2019: The Canadian Kennel Club (January) Raad van Beheer (The Dutch Kennel Club) the official kennel club of The Netherlands (February). A new two-year Sponsor, the Morris Animal Foundation (July). And several Non-Breed Specific Collaborators, which are organizations serving health and welfare interests for all breeds: European School for Advanced Veterinary Studies (ESAVS) (June) Global Pet Obesity Initiative (August) And going into 2020, we have renewed and ongoing contracts with all existing Contributing Partners! Harmonization of Genetic Testing for Dogs (HGTD) The HGTD Project has seen significant growth in 2019, and currently lists 76 Genetic Test Providers (GTPs) across 22 countries, worldwide with 42 currently participating or starting their participation. Thanks to Project Director Aimee Llewellyn-Zaidi! We have made several improvements to the information we record for both genetic test providers and test information. This includes clearer information on what laboratories are used for outsourced testing and when information has been updated by GTPs. Thanks to our App developer Michael Edwards (Coding Jungle), we continue to further automate the updating process and add on new functions. See further details on HGTD in the Digest. In 2020, in addition to expanding engagement with GTPs, we will integrate various projects (Expert Panel, Health Strategies Database (HSDD), the Get a GRIHP Program) to enhance breed-specific information and outputs. Read about these initiatives in Brenda's presentation under Breed-Specific Health Strategies at the 2019 4th IDHW, here. 4th International Dog Health Workshop (IDHW) The IDHWs bring together a wide range of stakeholders in dog health, science, and welfare to improve international sharing of information and resources, provide a forum for ongoing collaboration, and identify specific needs and actions to improve health, well-being, and welfare in dogs. IPFD is responsible for the International Dog Health Workshops and partners with other organizations who manage meeting logistics. Access the amazing resources from the four IDHWs here. The 4th IDHW, co-hosted by the Kennel Club in Windsor, UK, in May/June 2019, included more than 130 decision leaders from 17 countries, who joined us to share their experiences and expertise across five Themes addressing some of the most pressing issues in the dog world. We’ve compiled pre- and post-meeting resources here, both for the benefit of workshop participants and for those who were unable to attend. We continue to see the dividends of the important work done at the first three IDHWs (read more in our publication from the Paris 3rd IDHW and look for a new publication in the Journal of Canine Epidemiology and Genetics in 2020), and Working Groups have begun work on issues addressed at the 4th IDHW earlier this year. The 5th IDHW takes place in 2021, with the date and location to be confirmed soon! DogWellNet.com Our internet platform, DogWellNet.com, is an open access, ever-expanding information hub, providing links, documents, and additional resources to breeders and others in the dog world. For an overview of the site, including an explanation of key content areas and features, please visit DogWellNet.com: At A Glance. Although almost all DogWellNet content is available to guests, we encourage readers to sign up as members on the site. As of the publishing date for this issue, more than 1,200 people have signed up on DogWellNet.com, including more than 500 Members and 700+ Advanced Members. One of the popular resources on the site is the Breeds Database, ably overseen by our Content Manager Ann Milligan. A former breeder, and current judge, Ann is always thrilled to get information from breed clubs and breeders, as we continue to expand this resource. In 2020, there will be further integration of material from the breeds database with our other initiatives (HGTD; HSDD, etc.). DogWellNet Digest This is our eighth 2019 issue of DogWellNet Digest – a collection of the latest news from IPFD and DogWellNet.com. A link to each new issue is emailed to all IPFD Members and posted to our social media accounts, and all previous issues are archived on DogWellNet.com. See also IPFD in the Media for excerpts or links to published articles, etc. that reference IPFD or DogWellNet. IPFD Social Media In 2019, our social media presence expanded further into the dog world with several targeted campaigns and a growing following of our Facebook, Twitter, and LinkedIn accounts. Thanks to Dave St. Louis, our Communications Specialist, for keeping us in touch with our Partners, Members, and the dog world, in general. Another key online tool is our video resources. See our latest, a feel-good offering for the season, and tantalizing, early glimpse of our 2019 Annual Report. Enough looking back, let's talk about... Moving Forward in 2020 With additions to HGTD and other genetic counseling resources, implementation of the Expert Panel, creation of the HSDD, planning for the 5th IDHW; enhanced activities with our revitalized Board, ongoing outreach with our Partners and Sponsors...the possibilities are exciting! All the best for the holiday season and Happy New Year from IPFD...where every year is the Year of the Dog.
  6. After watching to play the video again use the controls and select "Replay" ⟲... or select from other displayed IPFD videos. It seems that every day - in the world of dogs and the world beyond - we see decisions made that may work for part of a problem, but because they do not take into account the complex reality of the bigger picture, they are unlikely to be fully effective. Every step we take at IPFD reminds me of this interconnectedness - and of the need for IPFD's international, multi-stakeholder approach. And about how grateful we are for the Partners, Sponsors and collaborators who make our work possible. We have created a short, 'lite' video to highlight these issues and then expand on examples below. IPFD's International Dog Health Workshops have helped to pull the vision of and methods by which the goal of better health and welfare for dogs is achieved. Breed Health Strategies are the foundation of planning for health and welfare improvement in dogs. A strategy for a breed may include any, or all, of the following: disease, longevity, genetic diversity, conformation, temperament, working ability. See Breed-specific Breeding Strategies - 3rd IDHW follow-up and a subsequent document which provide specifics for establishing a sound, workable strategy. These documents define projects and processes that focus on the objectives to safeguard and improve the future of a breed. (Breed Strategies IDHW content is attributed to Ian Seath, dog breeder, chair of the Dachshund Breed Council in the UK, and leader of the Breed-Specific Health Strategies theme at the IPFD International Dog Health Workshops (IDHW).) Also see IPFD CEO Brenda Bonnett's plenary talk at the 4th IDHW: Get a GRIHP on Breed Health, which addresses the complexities of big picture health concerns that must be addressed by collective information and actions. From the Genetics theme-based topics discussed at the 4th International Dog Health Workshop, a pressing need for genetic counseling experts emerged - experts to provide meaningful evaluation of and advice on breed-relevant use of the growing number of DNA and health screening tests available to dog owners/breeders. A key action/project at the workshop was interrogating the concept of “validation” – which pulled together many specific genetic test issues. It was decided that creating a model for addressing Validation for genetic tests would be the best use of time for the workshop. This was effective in guiding discussion to identify specific actions/projects moving forward. The questions from the breed community: How do we know what tests to use? How can we trust the test results? See the Report from the Genetic Testing Theme, from the 4th International Dog Health Workshop. Tools are needed! Why? Direct-to-consumer genetic tests have provided greater access to many different breed-specific and general genetic tests for dogs. This has raised concerns from owners and breeders who need more guidance and direction in making informed testing decisions. To help with this, the HGTD in December of 2019 added relevance ratings to the interface. Currently, the relevance rating is determined based on a wide-variety of evidence sources. This includes peer-reviewed research papers, recommendations from the original researchers/test developers, input from additional experts including veterinary specialists, and breed experts. It is important when considering the ratings to understand that this effectively indicates how much we currently know or do not know about a specific test for a specific breed. This does not necessarily indicate how “good”, or “bad” a test is. It also does not indicate the clinical importance of a test. So who is doing what in the big picture - of course management of dog's well-being includes and goes beyond DNA tests - health screenings matter, temperament matters, conformation matters... The Health Strategies Database for Dogs is in the works to augment health information available on DogWellNet... stay tuned. The ongoing creation of tools and educational content to improve the health and welfare of dogs by kennel and breed clubs, and work done by groups of breed enthusiasts drives the big picture forward. In the Blog post, Breed Health... What is your vision?, the take-away message is, undertake actions and make decisions that can impact the dog world in beneficial ways. We continue to promote international efforts on the challenges for dogs; we work to bring together stakeholder groups and organizations.
  7. 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. http://nsdtrc-usa.org/pdf_files/2012/Quakers-JADD-CP1-0512.pdf UK-Based Breed Club, with Health resources: www.toller-club.co.uk
  8. 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
  9. An article in The Canine Chronicle October, 2019, by Caroline Coile, is entitled: When 23 and Me Has Gone to the Dogs. PDF-Reprint version It is a summary of some of the discussions and presentations at the 2019 AKC CHF National Parent Club Canine Health Conference. I have already written a blog on my experiences speaking and participating at that meeting: AKC-CHF SYMPOSIUM: Harmonization of Genetic Testing and Breed-Specific Resources, where I cover some of the same ground at Ms. Coile. In that blog, I described the challenges voiced by breed club health committee reps, reflected in the questions they asked during the panel discussions. I said, for example: "It is not surprising that you are confused and frustrated...the world of genetic testing IS confusing and frustrating!" The worst challenges in communication and understanding have arisen, at least to some extent, by a combination of these factors: A very fast progression from hesitancy to mass acceptance of genetic testing as the ultimate measure of health and disease to inform breeding decisions. Driven by, e.g.: The 'Social Phenomena' and marketing of tests Direct-to-Consumer (see my talk at the American Veterinary Association). The underlying desire for absolute, straight-forward, black-and-white, simple answers to complex situations. And hampered by, e.g.: Lack of the full, key information for properly integrating genetic testing into best breeding practices. This lack due to, e.g.: Overemphasis of research on discovery of new genetic associations compared to study of clinical validity and ultimate utility of genetic tests relative to actual disease occurrence in the populations to which they will be applied. Rapid commercialization and offering of tests without anywhere near the level of validation and assessment of quality that is demanded for genetic tests in the human sphere and for virtually all other sorts of tests used in veterinary medicine. Inadequate availability of informed genetic counseling - with the genetic counselors challenged by the situations described above. Many genetic test providers providing full results on the plethora of tests and trusting consumers to be able to access counseling and/or figure it out themselves. An important aspect of this emphasis on genetic testing, mentioned in the Coile article is that, with this rush to genetic testing, there is a tendency to ignore or reduce the emphasis on the big picture of health in a breed, and to sometimes abandon or neglect health strategies and breeding decisions based on them. This I discuss in basically all my talks, e.g., in a presentation to the French Bull Dog Club of America in 2018. So - challenges, challenges, challenges - for genetic testing from research to application and from validity and quality issues to understanding and communication of best practices for all stakeholders and consumers. However, let's not 'throw the baby out with the bathwater'. Genetic testing has already supported health and breeding decisions, especially for simple recessive, fully-penetrant conditions. Unfortunately, these are the 'low-hanging fruit' for scientific discovery, and much attention has been paid to them. They are often rare conditions, and although detection and health strategies for them are very important to the limited number of dogs/lines affected, they may not be the most important conditions for the breed. The most common and important conditions, as also stated in the Coile article, are much more complex. Great things are possible with genetic testing. Whole genome analysis will offer even more potential to help animals and people. However, it looks like genomic testing will also be implemented in spite of great gaps in our understanding of what it means and how to apply it. This video from the human side offers some startling information that should increase our concern (see Strategic Planning Workshop: Genomics in Medicine). It is important to also focus on the good work being done to support stakeholders in dog health. Coile mentions the OFA and AKC-CHF is busy with many endeavours (including supporting IPFD). A great example is the Webinar by Joan Coates tomorrow (Thursday 16 October) on the topic of the hour - DM. Dr. Coates' comments at the Parent Club Symposium were important and it is great that they are being expanded to a Webinar. It is expected that she will clarify the DM-testing benefits and challenges, but we cannot kid ourselves that it can rectify the already-entrenched attitudes about DM in specific and genetic testing in general among the public. Hope is also offered by the existing and continuing developments by IPFD, on DogWellNet.com, and produced in collaboration of a wide network of international collaborators, although dependent on funding and further support. These include (and see my CHF talk): The Harmonization of Genetic Testing for Dogs (HGTD) - catalog on genetic test providers (GTPs) and tests (see the HGTD on DogWellNet.com). Initiative to clarify which tests are being offered specifically as targeted, relevant for a breed; collating information on benefits and challenges of panel testing vs. a breed-specific approach. Working Groups from the 4th International Dog Health Workshop (see article on post workshop genetics theme) on: A comprehensive matrix of the test discovery-commercialization-application pathway . Details on criteria need to provide validation at each step. Aspects of laboratory quality and best practices for GTPs. The potential for enhanced Proficiency Testing. Development of an Expert Panel application to assess and provide collective opinion on key issues about tests and testing. The Big Picture: developing the Heath Strategies Database for Dogs (HSDD), that will provide an interactive resource by breed and condition for all diseases/conditions considered important in health strategies from international and local kennel clubs and breed organizations, to include but not be limited those for which a genetic test is available. A structure for an Globally Relevant International Health Profile to summarize the state of health for breeds. Working together, we can improve our ability to make the best decisions for dogs and capitalize on the potential tools and strategies available.
  10. IPFD is truly a "people driven" service organization. We allocate the bulk of our financial resources to maintain a small but dedicated team of consultants to manage our modest resources and facilitate the activities of our stakeholders, with the aim of achieving our collective goals. Your generous donation to support IPFD and its programs helps ensure our long-term sustainability and supports ongoing efforts to create an enduring global collaboration that enhances the health, well-being, and welfare of all dogs worldwide. By supporting the Harmonization of Genetic Testing for Dogs initiative you can help us improve standardization of, and access to, robust genetic testing to support health improvements and a sustainable future for healthy dogs.
  11. At Paw Print Genetics, our geneticists and veterinarians are committed to provide you and your dog unparalleled service with our large menu of tests, online account management and the highest accuracy in the industry. Paw Print Genetics is a proud sponsor of IPFD's Harmonization of Genetic Testing for Dogs initiative.
  12. Embark is more than a product, or even a company. It is a promise to share the journey of a lifetime with you and your dog. You invite us, via our app and website, into your home to help you understand and care for your dog like never before. We invite you to join us in making new discoveries in dog health, wellness, care, and understanding: via our research questions, regular results updates, blog posts, social media, and events. Embark is a proud sponsor of IPFD's Harmonization of Genetic Testing for Dogs Initiative.
  13. Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you.
  14. 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 aimee.llewellyn-zaidi@ipfdogs.com.
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    IPFD's HGTD Project Director, Aimee Llewellyn-Zaide provides an overview of the Harmonization of Genetic Testing for Dogs initiative - challenges and aims of providing quality genetic testing information to the dog community.
  16. This introduction to genetic testing can tell you more about the different types of testing that are available, and guidance on what resources can help you find, choose, and use, the right tests for your dog.
  17. All donations are handled via PayPal. Make a donation to support IPFD and its programs or... Make a donation to support the Harmonization of Genetic Testing for Dogs initiative
  18. 4th IDHW: Don't Miss Out - Register Now! News & Highlights IPFD Annual Report 2018: Hitting Our Stride Make a Donation Stay Informed!
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