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Found 63 results

  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. Congratulations to the University of Sydney and OMIA - the Online Mendelian Inheritance in Animals database. 25 years old 25 May 2020. Check out the celebration webpage here. This amazing resource underpins research and education on genetics in many species and has been a key support for advancement in the world of dog genetics and genomics. The development and maintenance of this fantastic database is due to the input and support of many academics, researchers, and others, many of whom volunteer their expertise and time. But it would not have existed or been maintained without the commitment and passion of Frank Nicholas. We gratefully congratulate him on this milestone. OMIA is a collaborating partner of the IPFD, and we have been coordinating and linking with them to maintain the quality of the Harmonization of Genetic Testing for Dogs database and resources. The OMIA numbering system is vital for international collaboration and critical to harmonizing genetic phenes across research and industry. IPFD is very proud of and grateful for this association and will help celebrate this event with a donation via the OMIA site. Why not join us in recognizing this important and necessary achievement?
  4. 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
  5. "The IPFD's signature event, the International Dog Health Workshops (IDHW) bring together decision makers from kennel and breed clubs, professional, regulatory, national and regional, welfare and other organisations that are stakeholders in dog health, well-being and welfare and human-dog interactions under the tagline 'From Information and Collaboration to Action'." We are excited to report the online publication of the report on the 4th International Dog Health Workshop. We are particularly excited to report that actions prioritized at that meeting are underway and outcomes are being realized. Links to come.... Open Access - thanks to our Collaborators at Canine Medicine and Genetics Author details: 1 The Royal Veterinary College, UK; 2, 3 CEO, IPFD Canada and Sweden; 4 Svenska Kennelklubben, Sweden; 5 Queen’s University Belfast, UK; 6 The Kennel Club, UK; 7 Swedish University of Agricultural Sciences, Uppsala, Sweden; 8 Université Paris-Saclay, Inrae, AgroParisTech, France; 9 Project Director, IPFD, Oregon, USA; 10 Chairman Dachshund Breed Council, London, UK. View Full Article at Canine Medicine and Genetics Here Download PDF: Report on the 4th IDHW Canine Medicine and Genetics May 2020.pdf
  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: https://dogwellnet.com/ctp/
  7. Several IPFD collaborators are speaking at the AVMA conference this weekend! Thanks to IPFD collaborator, Dr. Jason Stull, there are sessions focusing on Canine Genetics in the Dr. James H. Steele One Health stream, including: Angela Hughes DVM, PhD from Wisdom Health is presenting Utilizing Genetic Panel Testing in Dogs for Breed and Disease and IPFD CEO Brenda Bonnett, DVM, PhD who is talking about Genetic Testing to Improve Canine Health: The Big Picture and why this truly needs to be considered from the One Health approach. Hint: We care about the dogs, but it is people who complicate everything!! In addition, Theme Leader at the 3rd International Dog Health Workshop in Paris, Jason Stull VMD, MPVM, PhD, DACVPM, is giving a series of talks on infectious disease concerns in veterinary practices, including, e.g. The Dummies' Guide to Preventing Hospital-Associated Infections. Harmonization of Genetic Testing for Dogs (HGTD) collaborator, Kari Ekenstedt DVM, PhD, is delivering a whole afternoon of talks on clinical genetics, including Practical Applications of Genetic Testing in Dogs and Cats. Hope to see vets and vet techs that are keen to expand their practical knowledge about dogs and genetics... See a follow-up:
  8. 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
  9. 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
  10. What a great weekend of education - with the Canadian Kennel Club and about 170 participants, including breeders with a range of experience from over 40 years to novices. Speakers Dr. Kari Ekenstedt, a geneticist from Purdue University in Indiana and IPFD CEO Dr. Brenda Bonnett covered 'everything you need to know to understand genetic testing' in a clear, concise and entertaining series of talks. Interactive discussions with the many knowledgeable, committed attendees were interesting and thought-provoking. Read more here. Download the schedule here: CKC Seminar Schedule Final.pdf My talks covered the Harmonization of Genetic Testing and the many initiatives IPFD is pursuing to support breeders, as well as a talk together with Kari on Ethics and Welfare. In addition, both speakers addressed issues about genetic diversity, selection and inbreeding. Dr. Ekestedt's presentation was a primarily science-based coverage, including description of various tools, including calculation of Coefficients of Inbreeding (COIs). My talk on Population Health and Diversity presented a more conceptual coverage of diversity (see below), including examples from other species. Both talks included practical suggestions for including these aspects in breeding decisions, but this was also meant to promote discussion and consideration by breeders as they examine their own role, as well as the roles of breed and kennel clubs in promoting and conserving health and longevity in their breeds. It is clear that many breeders are struggling with definitions and implications of genetic diversity, inbreeding and line breeding, and with resolving new information from the fast-advancing world of genetics and genomics with long-held attitudes and practices that are firmly embedded in dog breeding culture. Below are some key points and challenging issues raised in these talks and in the interesting and frank discussions with participants. Thanks to the Canadian Kennel Club and all the participants for a stimulating and enjoyable weekend of continuing education! Congrats to the CKC team who put on a great event. Stay tuned as we will post on DogWellNet.com the video of my talk and links to the rest of the program - hopefully in early January 2020. Additional reading on Genetic Diversity Understanding Breeds as Populations - J. Bell What we can learn from each other: Show Greyhounds Is Crossbreeding a Part of the Plan for Bulldogs -- Genetic Considerations (references Pederson Study) Small Population Breeds and Issues of Genetic Diversity - J. Bell
  11. The HGTD arose from discussions at the IPFD International Dog Health Workshops (IDHWs); it is a proud achievement, exemplifying the IDHW tagline: Information – Collaboration – Action! In 2019, the HGTD project could be summarized in one word: Growing. We’ve consistently grown our list of genetic test providers (GTPs). Participating GTPs have provided information on their accreditation, expertise, and practices – all of which helps individuals find a GTP that has the quality measures most important to them. The generic phenes database provided a centralized resource for researchers, vets, and owner/breeders, spurring unexpected benefits. We’ve seen more consistency in test naming among international providers, benefiting owners seeking testing information. It also allowed international researchers to spot industry-wide challenges, and have them addressed through a centralized platform. To better support dog owners, the veterinary community, and dog health advisors, we introduced Breed Relevancy Ratings across genetic tests. The HGTD database relevance rating indicates the amount of available evidence supporting the relevance of a specific genetic test for a specific breed/type. Currently, the relevance rating is 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 hoped that, by being more informative about what we currently know or do not know about a specific test for a specific breed, that dog health advisors and owners can make more informed decisions. The collaboration across the dog world, and the participation of those in the testing industry, dog owners, and experts around the globe, has helped to shape our achievements for 2019 and develop exciting plans for 2020.
  12. 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.
  13. Mars Veterinary is a business unit of Mars Petcare, the world’s largest pet care provider. Their mission is to facilitate responsible pet care by enhancing the well-being and relationship between pets, pet owners, breeders, shelters and veterinarians through valuable insights into pets as individuals. Mars Veterinary is a proud sponsor of IPFD's Harmonization of Genetic Testing for Dogs Initiative.
  14. Mars Veterinary is a business unit of Mars Petcare, the world’s largest pet care provider. Their mission is to facilitate responsible pet care by enhancing the well-being and relationship between pets, pet owners, breeders, shelters and veterinarians through valuable insights into pets as individuals. Mars Veterinary is a proud sponsor of IPFD's Harmonization of Genetic Testing for Dogs Initiative.
  15. Utilising the latest DNA technologies has enabled the VHLGenetics to grow exponentially since 1993. Our experienced laboratories offer more than 1,000 routine DNA tests for animals, plants and microorganisms. The three locations offer the same DNA services, and the number of DNA tests available is routinely increased by the newest developments in the field. VHLGenetics is a proud sponsor of IPFD's Harmonization of Genetic Testing for Dogs Initiative.
  16. Sentinel Biomedical is a pioneering comparative health company committed to research and scientific innovation. The company’s primary focus is investigating canine cancers and identifying biological changes and environmental influences that may be shared with human cancers, making canines true watchdogs in the area of human health. Sentinel Biomedical is a proud sponsor of IPFD's Harmonization of Genetic Testing for Dogs Initiative.
  17. Neogen Genomics operations deliver innovative, affordable DNA testing for the discovery and commercial application of genomic advances that enhance the safety and abundance of life. Neogen Genomics is a proud sponsor of IPFD's Harmonization of Genetic Testing for Dogs Initiative.
  18. We're Genoscoper - the specialists in canine genetics and animal DNA testing. We offer solutions to help you make informed decisions about pet care and breeding, through comprehensive testing services and improved DNA diagnostics, with the most advanced BioIT. Genoscoper is a proud sponsor of IPFD's Harmonization of Genetic Testing for Dogs Initiative.
  19. 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.
  20. ANTAGENE develops, produces and markets DNA tests for parentage certification and disease prevention in dogs and cats. The company is based near Lyon (France) and has a staff of 18 people. ANTAGENE offers more than 100 DNA tests in some 50 countries around the world. ANTAGENE solutions have been used by more than 80,000 breeders and veterinarians the world over. ANTAGENE is a proud sponsor of IPFD's Harmonization of Genetic Testing for Dogs Initiative.
  21. AUTHOR: HELLE FRIIS PROSCHOWSKY, DVM, PH.D., SPECIAL CONSULTANT, THE DANISH KENNEL CLUB (DKC) See: https://www.dachshund-ivdd.uk/what-is-ivdd/danish-ivdd-paper-2019/ PDF version: https://www.dachshund-ivdd.uk/app/download/11009159/Herniated+discs+HFP+2019+v4.pdf IVDD is explored in this concise presentation which was originally published in the March 2019 issue of the Danish Kennel Club magazine (HUNDEN). Translated version by Frøydis Hardeng and Ian Seath..
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