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Happy Birthday, OMIA - a lynch-pin in the development of genetic testing
Brenda Bonnett posted a blog entry in Brenda's Blog
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? -
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 -
"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 -
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/
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Is COVID-time the Right Time to Kon Mari Your Genetic Testing Plans?
Aimee Llewellyn-Zaidi posted a blog entry in Ask Aimee
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 -
Harmonization of Genetic Testing (HGTD) 2019 Summary
Brenda Bonnett posted a blog entry in HGTD & Genetic Testing
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. -
News & Highlights 2019 IPFD Annual Report: A Growing Voice Make a Donation Stay Informed! -
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.. -
DogWellNet Digest: Issue #29 - 18 February 2020
Dave St. Louis posted a article in DogWellNet.com Digest
News & Highlights Every Step We Take... Make a Donation Stay Informed! -
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. -
Genetic Diversity: The Big Picture and Challenging Issues
Brenda Bonnett posted a blog entry in Brenda's Blog
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 -
Genetic testing in dogs - Marie Abitbol (France)
Ann Milligan posted a article in HGTD Genetic Counselling
From - Standards, Health and Genetics in Dogs - Chapter II - Genetic testing in dogs - Marie Abitbol (France) "The first part of this chapter presents the genetic characteristics of the canine species and the basics of canine genetics. The second part addresses the use of screening and diagnostic tests for inherited diseases, with a focus on genetic counselling and the parameters that determine the interpretation of test results. The third part concentrates on the search for informations on canine inherited diseases and the tests available. The final part presents tests for aesthetic characteristics such as coat colour." -
DogWellNet Digest: Issue #27 - 19 November 2019
Dave St. Louis posted a article in DogWellNet.com Digest
News & Highlights Pet Obesity - Information & Resources Make a Donation Stay Informed! -
Confidentiality and Genetic Testing: more benefits and risks
Brenda Bonnett posted a blog entry in Brenda's Blog
The parallels between human and dog testing are many, especially in terms of the challenges (and potential) arising from the market move to Direct-to-Consumer testing in both species. I talked about these issues in my presentation to the AVMA conference. In the slide here, I make the point that in recent years there have been rapid changes, not only in the fantastic and ongoing developments in science and technology, but also in terms of how and why genetic testing is accessed by consumers. And not just in the dog world. For humans as well, genetic testing is very much trending in social media and popular, not simply in medical applications. An article in Scientific American caught my eye, as it highlights some similar issues that were discussed September 7, 2019, when I addressed the Canadian Kennel Club Board. This article is about sperm banks and how they are admitting they cannot 'guarantee' donor anonymity in the face of services like 23 and Me and Ancestry.com. The basic point, similar in dogs and humans, is that once a sample is submitted for DNA testing, the lab has the material to compare and contrast to other samples they have tested, and to identify related individuals. The labs have the information, or the potential to have it, regardless whether the sample was originally submitted for ancestry testing or a panel of disease tests or one specific test. There is a degree of confidentiality, in that, presumably humans at least can elect not to accept identifying information if the company tells them a relative has been found. Perhaps you can opt out of receiving any information, but in reality many people either are looking for this information, and others do not fully realize what the options mean when they submit a sample. In the field of human testing, numerous initiatives are looking at ethical concerns in research and for application. One obvious example is where an individual agrees to participate in genetic disease testing, either in a research setting or by consumer choice. Depending on the condition and the results, the tested individual may now know or suspect information about their relatives - relatives who did not sign an informed consent or make the choice to 'know'. It is a complex and challenging situation. How does this relate to the world of dogs? We have had discussions recently at the 2nd International Meeting of Kennel Clubs in Stockholm, at the 4th International Dog Health Workshop and at the various talks I have given lately. Some kennel clubs, who are expanding or developing health and pedigree linked databases, are suggesting that 'all' registered dogs should have forensic identification and parental verification. Registries have always recognized that dog identification by, e.g. tattoo, and even microchips, are subject to error - accidental or otherwise. When information is going to be part of the permanent record of the dog, accuracy is of extreme importance. However, even if almost all registries demand 'permanent' dog identification, this varies in type (e.g. tattoo, microchip, DNA), potential for errors and, let's face it, the ability of many registries to be absolutely sure that the results are from the specified dog. The Dutch Kennel Club has a phenomenal program for identification of all registered puppies, made possible partly by the limited size of the country. We will try to provide more information on this in another blog or article. The complexities of dog identification have additional ramifications and impacts on health strategies... A recent paper by Tom Lewis (The impact of incorrectly recorded parentage on inferred genotypes over multiple generations, attached below), geneticist at The KC in the UK, has shown the dangers of designation of 'clear by parentage' when there may be error in the identity of the dog and its ancestors. His work underpins the decision by The KC to limit the clear by parentage to two generations. Presumably, dogs beyond this limited time frame must then be re-tested. Of course, with DNA identification (of all tested dogs) theoretically a much lower error rate could be achieved. (Parentage verification is highly accurate, and there are standards and proficiency testing in place for this type of testing.) Tying this back to the concept of confidentiality, the KCs at the International meeting also discussed data privacy concerns around genetic testing and data banks. I won't go into the handling of owner data, de-identification of samples, and numerous other issues, but I will mention one point of discussion that relates to the sperm bank example above. The genetic testing laboratory or researcher or commercial test provider will have the ability - or potential - to detect related individuals by their genetic profiles, whether or not they have owner identification. Not that this means it will be used in a way that should cause concern, but as in the human example, it is perhaps something of which to be aware. Have we been paying enough attention? It seems there is great concern on the human side. This is all complex and confusing; stayed tuned for a coming blog explaining forensic, identification, parentage testing and more. All of this raises tough issues that will have to be considered by the dog world, as some registries and kennel clubs move towards mandatory DNA identification / parentage testing and others do not. This is another angle where the evolving technology of genetic testing is creating both benefits and challenges. Resources: Tom Lewis Impact of Incorrectly Recorded Parentage.pdf -
DogWellNet Digest: Issue #26 - 26 Sept 2019
Dave St. Louis posted a article in DogWellNet.com Digest
News & Highlights IPFD Breeds Database: A Vision of Collaboration Leads to Ongoing International Action Make a Donation Stay Informed! -
Ask Aimee: Breeder wants to know about prioritising a new genetic test
Aimee Llewellyn-Zaidi posted a blog entry in Ask Aimee
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 -
IPFD friend and collaborator Dr. Jerold Bell, Adjunct Professor Tufts University, and Chair of the Hereditary Disease Committee of the World Small Animal Veterinary Association, has recently circulated a letter about DM testing in French Bulldogs (attached below). According to his research and communication with international neurologists there has never been a confirmed case of DM in this breed, and yet the test is recommended in several countries. French Bulldogs do have spinal problems, but these are generally due to widespread prevalence of vetebral abnormalities and not DM. Testing - and then perhaps eliminating dogs from the breeding stock based on test results - is not a beneficial strategy for the population. Part of the problem of wrongly recommended tests may related to the unfortunate use of language for some genetic tests. Results of allele frequencies may be reported as 'clear', 'carrier', or 'affected'. In fact, 'affected' in this case means 'genetically affected' and may or may not relate to clinical disease, as in the case of DM in French Bulldogs, at least as far as we know. Discussions like these are crucially needed as part of better genetic counselling. See further discussion on this issue in my talk to the American Veterinary Medical Association. Here is the letter from Dr. Bell: Degenerative Myelopathy Does NOT Occur in French Bulldogs.pdf
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This report is to be viewed as a dynamic document summarizing the pre-thru-post 4th IDHW meeting activities around the Genetic Testing theme. Please note that additions and changes may occur. We will be welcoming comments and suggestions from participants in the workshop and working groups as we move forward. Please contact Aimee at aimee.llewellyn-zaidi@ipfdogs.com. -
What we can learn from each other: Show Greyhounds
Brenda Bonnett posted a blog entry in Brenda's Blog
Many of our colleagues, collaborators, members and readers have a special interest in their own breed(s) and on DogWellNet.com we try to provide extensive breed-specific content. However, a key underlying tenet of IPFD and our platforms is that there is great deal of information and experience that is relevant across breeds, across activities and across regions. Therefore our emphasis on sharing. Thanks to Barbara Thiel who recently shared a presentation on Actual challenges in breeding show type Greyhounds by Dr. med. vet. Barbara Kessler, scientist at the Chair for Molecular Animal Breeding and Biotechnology Ludwig-Maximilians-University Munich. Notwithstanding the title and the information on some Greyhound-specific diseases, much of this talk is about challenges of selection, inbreeding, and impact on diversity that applies to all breeds. Barbara Kessler has makes some strong statements based on her academic and personal experience. She lists, e.g. some autoimmune diseases associated with reduced genetic (sic) variability, including allergies, diabetes, and hypothyroidism - conditions seen, perhaps increasingly in some other breeds. There are great graphics provided by veterinarian Barbara Thiel highlighting the breeding separation of Greyhounds based on their activities. And Barbara Kessler contrasts the breeding approaches of 50 years ago to more recently. Some of the challenges they highlight exemplify discussions at the 4th International Dog Health Workshop on 'The Concept of Breeds and its Impact on Health'. This recalls to mind a discussion I observed at an international meeting of Springer Spaniel Clubs at the time of the World Dog Show in Sweden in 2008. There were passionate and conflicting claims that the breed was first and foremost a working/hunting breed or now a show breed; long time breeders and experts were adamant that it was a breed with strong working capabilities that was also beautiful - just as it was (i.e. without a long, silky coat or other adaptations to the show ring). I do not want to imply that any one approach is the only or right one. However, I can concur strongly with one of Kessler's messages, specifically that people who are applying strong selection, breeding rapidly and intensely for specific appearances, need to be very aware of the larger and longer-term consequences of that approach. These issues are fraught with emotion, attachment to certain ideals, and even well-established human behaviours. Many accuse anyone of providing this type of information as being anti-dog shows or anti-purebred dogs. However, in many cases those who are calling for awareness, change and addressing challenges head on are themselves passionate about these breeds and fully committed to their preservation, health and welfare. The talk goes on to an interesting and thought-provoking section on genetic diversity and I hope our working group on this topic from the 4th IDHW will find it useful. As stated in this box... we depend on breeders to 'keep their 'eye on the whole dog' ... but then it must be that - and not getting swayed into too much focus on appearance, extremes, the latest fashion. or what judges are awarding Let's keep the lines of communication open. It seems that many are taking increasingly extreme and opposing views on challenges in dog breeding and the world of pedigree dogs. Perhaps this stems from sincere and increasing concerns... whether it is veterinarians and researchers who are more worried about the health and welfare of the dogs ... or breeders and exhibitors and judges feeling that their pastimes, culture and even livelihoods are under attack. But regardless, confrontation is not likely to be best for the dogs or their humans. Thoughtful awareness of the impact of our actions; compassion more than judgement: and a willingness to listen are all good to consider. And let's keep sharing the wonderful material and resources from around the world. Original link: http://katrin-und-joachim.de/2019/07/24/actual-challenges-in-breeding-show-type-greyhounds/ "On occasion of the Finnish Greyhound Club Show, Dr Barbara Kessler was invited to talk about Greyhound health"... The Greyhound Show website: http://katrin-und-joachim.de Also see: DWN's Greyhound page -
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Claire Wade's presentation from the 4th Dog Health Workshop covers researcher motivations and challenges in the field of genetic test development, validation, publication and communication - the presenter offers insights into the dog and researcher community's shared aims for use of genetic testing to enhance animal health and welfare. -
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IPFD's HGTD Project Director, Aimee Llewellyn-Zaide provides an overview of the Harmonization of Genetic Testing for Dogs initiative - challenges and aims of providing quality genetic testing information to the dog community. -
Please check back often as we add more posters from the 4th IDHW. -
News & Highlights 4th IDHW Pre-Meeting Resources Make a Donation Helpful Hint Stay Informed! -
DogWellNet Digest: Issue #23 - 20 March 2019
Dave St. Louis posted a article in DogWellNet.com Digest
4th IDHW: Don't Miss Out - Register Now! News & Highlights IPFD Annual Report 2018: Hitting Our Stride Make a Donation Stay Informed! -
The Harmonization of Genetic Testing (HGTD) and IPFD were referenced in an Associated Press Article on February 11, 2019: Dog DNA Testing Takes Off, and Generates Debate