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Found 71 results

  1. In This Issue: News & Highlights Actions Around Brachycephalic Dogs: Reports, Research, and Legislative Developments in Several Countries Make a Donation Stay Informed!
  2. IPFD's genetic testing resources are mentioned in media stories on international research that has documented the molecular basis of the Australian Labradoodle. Their main conclusion is that animals in the Australian Labradoodle breed registry are mostly poodle, and not a 50-50 split as might have been expected.
  3. This year has been challenging for all organizations globally. However, IPFD has fared well. We have always been a ‘virtual’-based operation, with all consultants working from home. Building on our 2019 Annual Report: A Growing Voice, this milestones document is meant to update our Partners and Sponsors on our activities to date in 2020. – Dr. Brenda Bonnett, CEO (click to download/share as a PDF): IPFD Milestones 2020 August 2020.pdf Message from the Canadian Kennel Club: “CKC’s membership in the International Partnership for Dogs, and participation in the biennial Dog Health Workshop and the international working group for extremes in conformation has strengthened Canada’s position internationally on critical and strategic issues such as conformation standards development, health strategies and breeding Brachycephalic dogs. Closer to home, it has helped CKC to improved awareness and confidence in CKC with breeders, government and the general public that health and well-being of purebred dogs is top of mind.” IPFD Operations IPFD Board Transitioned in three new Board members, from the USA and Germany. The Board has added new committees to increase its effectiveness. The IPFD Communications and Fundraising Committees, e.g. will be looking to expand with external members to broaden representation. See Board and Officer profiles. Team Monique Megens joined as IPFD's first Chief Operating Officer (COO). Her impressive credentials are assisting us to streamline administrative functions and address growth and sustainability. IPFD CEO Dr. Brenda Bonnett has been named honorary doctor at the Swedish University of Agriculture (SLU) Faculty of Veterinary Medicine and Animal Husbandry. Cancelled all planned travel and face-to-face meetings without substantive impact. Partners and Sponsors In 2019 we had renewed or continued ongoing contracts with all Partners, and in 2020 we have welcomed/ are in discussions with several new IPFD Partners/Sponsors. See 2019 Annual Report for list. We continue to develop outreach tactics with our partners, such as IPFD Collaborating Partner, The World Small Animal Veterinary Association (WSAVA). IPFD is submitting a monthly feature, called Meet the Breed, as a monthly feature in their online news section and WSAVA Bulletin, which highlights IPFD resources on a particular breed with a focus on breed-specific diseases, international health data, and more. Communications Published 2019 Annual Report: A Growing Voice. In our fifth year we continued to effectively advance our mission of enhancing dog health, well-being, and welfare and supporting human-dog interactions. Enhanced messaging and branding for IPFD with new “About IPFD” section on DogWellNet.com highlighting who we are, what we do, and how and where we work. New plans to increase our visibility in the dog world. For example, WSAVA collaboration, and plans to distribute content for breed clubs and media. DogWellNet Digest, our newsletter is sent to all members, highlighting new content and with a spotlight on major current issues, e.g. 'Pandemic Puppies' and Brachycephalic issues. Social Media: continuing with Facebook, Twitter, LinkedIn, and Instagram (added in 2020). Major Initiatives DogWellNet.com is the hub for our major initiatives – where the fantastic resources, information, and tools are available to all. In 2020, content has expanded with dozens of new articles and blogs, in addition to resources from our major initiatives (below). As all the pieces of the puzzle of dog health and welfare continue to be compiled, we are advancing also in our role to promote the Big Picture… i.e. a truly holistic approach integrating across stakeholders, topics, and regions and bringing the dog world together. International Dog Health Workshops (IDHWs) A report on the 4th IDHW was published in the online journal Canine Medicine and Genetics. Actions prioritized at that meeting are underway and outcomes are being realized. Prioritized in the Extremes theme at the 4th IDHW, the new International Working Group on Extreme Conformation in Dogs (IWGECD) has been enacted. It will facilitate creating and sharing resources across national/ international working groups, experts, and other stakeholders. First focused on challenges with brachycephalic breeds, it will eventually address other issues related to extremes of conformation. Significant advancement of actions under Genetics (validation of tests, breed relevance reporting, laboratory standards), Breed Health Strategies, and Supply and Demand are ongoing. The next IDHW has been postponed to 2022. There may be a virtual meeting in 2021, and the Canadian Kennel Club has indicated an interest in discussing hosting in 2022, in Toronto. Breeds Database Continues to expand both in terms of the content and the number of breeds (180 in total, including 7 new, many updated in 2020). Breed experts and clubs continue to share material, and we are expanding our collaborations. Our breeds material is integral to the new Get a GRIHP! articles (see below). Harmonization of Genetic Testing for Dogs (HGTD) The HGTD Database now includes quality information on 76 academic and participating commercial genetic test providers (GTPs) in 22 countries and 370+ phenes/tests, as well as genetic counselling resources. Breed Relevance Ratings (BRR): This new initiative characterizes the scientific backing for available tests, across breeds and crossbreeds, and is expanding rapidly with input from experts who have welcomed this development. The BRRs support owners, dog health advisors, veterinarians, and experts and several major commercial test providers are enhancing their breed-relevant reporting and collaborating with us. Breed-specific genetic testing information is being integrated into Get a GRIHP! developments. A 3-tiered system for commercial participant has been revised: Sponsors, Supporters, and Participants. We are having good response to our annual request for donations from the test providers. The new HGTD & Genetic Testing blog: regular updates on our expanding genetic testing resources. Bringing it all together: Let’s Get a GRIHP! Dog problems are complex and require a multi-disciplinary, multi-stakeholder approach. The pieces of the health puzzle are addressed by: breed clubs identifying conditions of interest in their breed, kennel club recommendations/requirements, researchers studying disease and population statistics, genetic test providers’ offerings, national population stats - and all this must be integrated. Use and interpretation of genetic tests, e.g. needs to be balanced with other disease risks and health and welfare concerns. Veterinarians, owners, breeders, and health advisors need tools to help them pull it all together. IPFD’s answer is to Get a GRIHP! - a Globally Relevant Integrated Health Profile. Our first articles in this series are for Welsh Corgis and Dachshunds, linked with the WSAVA Bulletin articles and all our other breed-specific information. With support from Morris Animal Foundation, we are preparing a Get GRIHP package for Golden Retrievers. Ultimately, we are working to establish the Health Strategies Database for Dogs (HSSD) that will be an interactive resource of health strategy information from many stakeholders and collaborators. Structured similarly to the HGTD, but with information on all conditions of interest in a breed. IPFD – Into 2021 Controversies and challenges to dogs internationally continue to underline the need for broad-based collaboration and the impartial voice of IPFD. Initially we were concerned about the financial health of our contributing partners due to COVID-19 challenges; however, it seems that with increased dog registrations in 2020, our funding base from most of our existing kennel club partners, e.g., should be stable. And yet, our big ideas need further support. A major effort for the end of 2020 and into 2021 will be fund-raising. Contact: Brenda.Bonnett@ipfdogs.com. Excerpts from Get a GRIHP articles:
  4. Click on a link below or scroll down to view each section: HGTD In The News HGTD News From IPFD Initiative Background Key Partners and Leadership Sponsors Executive Summary Timeline HGTD In The News September 14, 2020 IPFD Mentioned in Articles on Australian Labradoodle DNA Study (The Guardian, The Conversation) September 13, 2019: HGTD Interview in Story from ABC 10 (Sacramento, CA) May 16, 2019: HGTD Gets Mention in Story from WGME CBS 13 (Portland, ME) March 8, 2019: USA Today article: DNA testing kits for dogs are super popular. But the testing has some veterinarians pushing standards February 11, 2019: The Associated Press (and various media) article: Dog DNA Testing Takes Off, and Generates Debate November 12, 2018: HGTD featured in The Atlantic: What Vets Think of ‘23andMe for Dogs’ October 3, 2018: IPFD submission responding to “Pet genomics medicine runs wild” published in Nature Visit our IPFD in the Media section for more published articles, commentaries, etc. from outside organizations that reference the HGTD or IPFD. Items in this section related to the HGTD specifically are also presented together in the article In the News: Harmonization of Genetic Testing for Dogs. HGTD News from IPFD December 19, 2018: Update on the Harmonization of Genetic Testing for Dogs (HGTD) Visit our IPFD News section for more news related to the HGTD and other IPFD news. HGTD Initiative Description The IPFD Harmonization of Dogs (HGTD) is a multi-stakeholder, collaborative effort to create an open access, sustainable online resource that: Catalogs information provided voluntarily from genetic test providers (GTPs) including information on their company and services, quality measures and expertise, tests offered and more. We are continually engaging more GTP participants. Has collated and assembled existing and new resources for genetic counselling and education; and provided the foundation for further developments. Will host expert panel reviews of genetic tests and their application. Plans to include a program for standardized proficiency testing and potentially peer review and audit. A related development, the Health Strategy Database for Dogs, will include a comprehensive list of conditions (potentially inherited) by breed, country and organization or group who has developed recommendations (i.e. Health Strategy Providers). This resource will support counseling that considers not only those conditions for which there is a genetic test, but also all those breed disorders/ characteristics that impact health and well-being in breeds. Our Steering Committee includes: Brenda Bonnett, CEO, IPFD; Aimee Llewellyn-Zaidi, HGTD Project Director, IPFD; Diane Brown, AKC Canine Health Foundation; Matthew Breen, North Carolina State University; Cathryn Mellersh, Animal Health Trust; Sofia Malm, Swedish Kennel Club; Wim van Haeringen, VHL Genetics, Netherlands; Sue Pearce-Kelling, Optigen; and Eddie Dzuik; Orthopedic Foundation for Animals (OFA). IPFD, our Partners and other stakeholders in this initiative recognize the input and work of many other experts and organizations in addressing the use of DNA tests in dogs. The Harmonization initiative is working to further engage numerous experts to participate in panels to develop the resource, provide evaluation of tests and work to advance genetic counseling. IPFD actively engaged Leadership Sponsors (see below) to help develop the HGTD Quality Database. These collaborators include international genetic test providers (GTPs), academic institutions, the Hereditary Disease Committee of the World Small Animal Veterinary Association and other important dog health organizations. A prototype was presented at the 3rd International Dog Health Workshop and at the 9th Canine and Feline Genetics and Genomics meeting in Minnesota, May 2017. Beta testing of the Quality Database was completed in early 2018, and it was launched on 7 May 2018. Since the launch, there has been a surge of interest from both the public, and potential new collaborators. The HGTD database was the culmination of months of hard work, building of new collaborations, fundraising, and data management. One of the major IPFD projects, it arose from discussions at the International Dog Health Workshops (IDHWs); the HGTD is a proud achievement, exemplifying the IDHW tagline: Information – Collaboration – Action! We have been pleased to find that people are already using the HGTD Database to help find the right international genetic test provider, and testing information, for their dogs. By publishing details on a test provider’s measure of quality, business and research information, and tests provided – as well as information on hundreds of breed-specific DNA tests – dog owners and health professionals are able to make the most of this project. The growth and development over 2018, and the positive interest from diverse professional and public media - from JAVMA to The Atlantic - has been reassuring that this project is both timely and needed in the world of genetic testing. It has also become apparent that IPFD has an important role to play as an independent voice in discussions on the complex world of genetic testing. See, for example, our response to an article in Nature, where we are able to provide a balanced view of issues. See also, a Improving Canine Genetic Testing, a discussion on standards for GTP labs and broader challenges. This is a field with a diverse array of stakeholders, and encouraging discussions will continue to be part of our role. As of December 2018, Harmonization of Genetic Testing for Dogs database currently holds basic information for 59 genetic test providers across 17 countries, with information on quality measures and accreditation for 26 active and participating test providers - including non-profits, academic institutions, and for-profits. Our searchable genetic phenes database currently holds information on 300+ phenes across all breeds/types, and provides a plethora of information on each phene: links to OMIA, gene + mutations, a simple and advanced disease description, inheritance details, links to original publications, patents/licenses, comments from the original researchers/experts on application, and breed specific information (such as research/validation) - where possible. Our projects moving forward in 2019 are to continue to engage with researchers, veterinary experts, and test providers, and also to focus on the development of an expert panel for reviewing genetic testing resources, as well as interactive educational tools for consumers. In addition, we are looking for collaboration to address some common problems across genetic testing, such as nomenclature of genetic tests - which has been a significant challenge in harmonizing across international researchers and test developers. We are pleased that we continue to have sponsorship and support from many of our key Leadership Sponsors to develop our work for 2019. We would welcome anyone with an interest in contributing to, or participating in, the HGTD project to contact us. We are particularly keen to engage with academic and research institutions providing testing, who are concerned about ensuring genetic testing is a beneficial and responsible resource. Key Partners and Leadership Sponsors Read more about IPFD Partners and Sponsors Other potential sponsors and collaborators are welcome to contact us to explore opportunities. Contact: IPFD CEO Brenda.Bonnett@ipfdogs.com or Project Director Aimee.Llewellyn-Zaidi@ipfdogs.com “Wisdom Health and the Wisdom Health logo are trademarks of Mars, Incorporated and its affiliates. Used with permission.”
  5. Vets – what can HGTD do for you? Genetic testing is part of our dog's lives Just as genetic testing has become normalized in the human world, thanks to popular direct to consumer products like 23 and Me, or Ancestry.com, so it has in the veterinary world. While perhaps once the preserve of specialist dog breeders, it is increasingly common for vets in practice to have questions from clients about DNA testing. While covering the basics of testing and inheritance is part of many veterinary educations, it is unreasonable to expect anyone to have knowledge of the 300+ different genetic tests available to 400+ recognized dog breeds, and their crosses – let alone which of the 2,500+ breed x test combinations might be the most relevant for your client. This is where Harmonization of Genetic Testing for Dogs (HGTD) can help. How HGTD can support veterinarians and their clients HGTD provides a searchable, comprehensive list of genetic tests available internationally. With a quick breed search, you can instantly find transparent information on breed and type-specific tests for advising clients on options for pre-breeding genetic tests, gene-based diagnostic/risk testing, parentage/maternity/paternity. There are even breed relevancy ratings (BRR) for most tests – indicating the research underpinning the relevance of a specific test for a breed. At a glance, for each test you can find clinical information, links to original research papers (most open access) and additional education sources for both veterinary health professionals and clients. HGTD information works in conjunction with wider breed-specific health testing and information from the International Partnership for Dogs (IPFD), via www.dogwellnet.com. Examples include: - breed-specific health strategies from international kennel and breed clubs - clinical health testing (e.g. eyes, hip, elbow, heart schemes around the world) - veterinary collaborations – IPFD is a World Small Animal Association (WSAVA) Educational partner and FECAVA is a Collaborating Partner of IPFD Find yourself with a client wanting to know about inherited eye diseases in the Cesky terrier? All the DNA tests available for the Otterhound? Whether there is a genetic test for mustaches in Schipperkes? Which companies offer genetic testing for dogs in Belgium? HGTD has a search option for all! Start a search of the Harmonization (HGTD) database here! How does HGTD fit into wider health concerns? Genetic testing is just one tool to improving canine health and welfare. There are a number of additional resources from IPFD on dogwellnet.com providing breed and type specific health data, and how genetic testing fits into the Big Picture of health and welfare. Check out: Globally Relevant Integrated Health Profiles e.g. 'Get a GRIHP!' This series of articles focuses on the Big Picture of health and welfare within breeds including international resources for veterinarians, owners, caretakers, breeders and others who want to understand the key issues for individual dogs and breed populations monthly IPFD feature articles in the WSAVA Bulletin. breed-specific health reports Can HGTD do more? HGTD is built on a principle of working collaboratively to meet the needs of our canine community. If you're a veterinary scientist, or canine health professional and have a question about genetic testing, or an idea of how HGTD could improve to further improve access to, and understanding of genetic testing, please let us know. Photos: La Miko (main image) and Alana Sousa (inset image) from Pexels.
  6. HGTD This Week, 7 Aug 2020: Canine Crime Scene Investigators When we think about genetic testing, we often focus on how it can be a tool to improve health and welfare - generally centered around breeding for health or finding more about the health or potential health risks for an individual dog. Knowing about health risks that are especially relevant to specific breeds or dog types makes testing even more powerful in helping reduce risks of disease or undesirable traits (see Breed Relevancy Ratings). Most commonly, genetic screening and diagnostic testing focuses on: disease tests, breed estimation tests, diagnostics, parentage/paternity, inbreeding estimations, etc. (search for genetic tests and providers, here). This week, I received a very interesting question from a DogWellNet.com user, who wanted to know if genetic testing could help them with a dog attack incident. Their dog had been bitten, and they wanted to know if genetic testing could be used to identify the attacking dog, using saliva from the collar. The short answer is… probably not, but maybe not for the reasons you think. In principle, it should be possible to extract DNA from saliva from a surface like a dog collar. The challenge is that, even with a genetic profile: You won’t know if the profile is from the attacking dog, or some other dog your pet has met at a dog park, on a walk, at the vet’s… Without a profile of a known dog to compare it to, you won’t be able to identify the dog (and therefore owner) This is because dogs are generally not required to be registered with a genetic fingerprint. So, unless you know the dog and the dog's owners, it is impossible to confirm identification using DNA alone - much like the challenges in human criminal DNA identification. This brings us around to thinking about some of the more forensic things genetic testing can, and cannot do: Can do: Act as a permanent identification for an individual dog (genetic profiling) Determine parentage, when relatives’ profiles are known for comparison Comment on the risks of specific genetic mutations for specific diseases (disease/phene screening testing) Aid in the diagnosis of specific risks/diseases (only with diagnostic testing as opposed to screening testing) Cannot do: Identify a specific dog, without that dog’s genetic information/owner being on an accessible registration list “Prove” that a dog is responsible for an action, without other evidence Be used to make “permanent” decisions (e.g. euthanasia) on its own, without other veterinary health information, and welfare considerations While there are plenty of incredibly useful things genetic testing can do, beyond genetic screening tests, it is really important to consider why you are testing and how you are going to use any test results. As with any tool, genetic testing has its limitations. Want to go further? Check out this blog - Confidentiality and Genetic Testing: more benefits and risks - by IPFD CEO Dr. Brenda Bonnett, looking a other parallels and challenges with the human situation. Relevant to the discussion above - confidentiality and availability of identifying information is an important issue to consider. Or explore the whole new world of 'poop forensics' : Dog Poop DNA Tracking Introduces Spy Tech to Our Backyards. (IPFD disclaims any responsibility for the information presented there!) Photos: pixabay (cover photo): G. Fring (image) via Pexels
  7. The Harmonization of Genetic Testing for Dogs (HGTD) project work includes harmonizing genetic test information across many different boundaries. That can be as simple as adding consistency to nomenclature from around the world, or as challenging as cataloging test information and research from dozens of different international sources. With so much variation in how tests are developed, and how they are released to the public, a big part of my work is ensuring that phene names we publish on HGTD are consistent, accurate, and representative of whatever genetic test a person is seeking out. In most cases, a test name refers to a recognized clinical disease. In essence, 1 phene + 1 breed = 1 test name. However, many tests are relevant to more than one breed, because many breeds share ancestors at some point. Even more often, test names (because remember, they’re based on the clinical disease) are very similar or even the same, within the same breed. Confused yet? A perfect example of this is the disease Progressive Retinal Atrophy (PRA). Progressive retinal atrophy refers to the clinical description (symptoms, essentially) of what is actually a group of inherited retinal diseases. During the progression of the disease, the retina of the eye atrophies (degenerates) over time, eventually leading to complete blindness. The main differences between the various PRAs being the age of disease onset, and how quickly the disease progresses. There are currently 20+ different forms of PRA on HGTD – which can be breed-specific, relevant for a few breeds, or more than one form of PRA applying to the same breed. 15 years ago, there was only one “PRA” test! As 20+ new mutations causing PRA where discovered over many years, the naming of the PRAs in a distinctive and unique way became more challenging. Researchers had a variety of ways of naming, as there is currently no international phene naming standard. Generally, they started falling into a few categories: Breed-focused, e.g. PRA “Italian Greyhound” Inheritance-focused, e.g. PRA “X-linked” Varietal, e.g. PRA “Type B” Mutation, e.g. PRA “rcd-4”. When you start getting more than a few similar test names it can be easy to lose confidence which test name represents a specific gene and mutation. There is a very real risk of selecting the wrong test for a specific mutation. HGTD tackles this confusion in a few ways, and it is one of the advantages in using a resource that catalogues all phenes. Using HGTD, you can see the genetic tests that are breed-specific when searching by breed, but you can also double-check yourself using a number of different referencing points: - The OMIA number - Gene and mutation(s) associated with the test name - Synonyms/related terms - Clinical descriptions - Breed-specific publications - Researched breeds references For most dog owners and veterinary clinicians, the clinical descriptions, breed-specific publications and researched breeds references are particularly useful. This is an ideal way to ensure that the breed or breeds you’re interested in not only have this test available to them, but that there is some research and relevance associated with that specific test and specific breed. Researchers, genetic advisors, and clinicians will find benefit in cross-referencing with the OMIA number, and/or double-checking that the specific mutation in the specific gene is associated with the phene/disease test that they are interested in. HGTD tries to provide a bit of a confidence short-cut through our development of Breed Relevance Ratings (BRR). Still a work in progress, BRRs are a good way of indicating the relevance of a specific test for a specific breed/type. These can help take some of the guess-work out of what tests might be important for your dog, and/or how the results should be considered as part of breeding strategies. When in doubt about which phene you are trying to find a test for, using the generic phenes search provides you with centralized information to guide you, and help you to make accurate and informed choices. photo with thanks to Lum3n via Pexels.com
  8. This article describes the role of Genetic Test Providers (GTPs) in the Harmonization of Genetic Testing for Dogs (HGTD) initiative, provides information on who they are and why they participate, and defines processes and levels of participation for current and prospective collaborating GTPs.
  9. 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
  10. New in 2020: Genetic tests listed by breed include a 'relevance rating'. Here is what that is and why it is important. A work in progress... this will be a dynamic index that may change as new information becomes available. Essentially, it is a visual expression of the level of evidence we have for the use of a given test in a specific breed. The red, yellow, green ('traffic-light') layout is shown in paw prints beside the test listing returned in a breed search (see below), or as coloured badges on the Generic Phene page.
  11. 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)
  12. 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?
  13. 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
  14. "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
  15. 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/
  16. 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:
  17. 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
  18. 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
  19. 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
  20. 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.
  21. 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.
  22. 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.
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