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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 -
As we have seen, veterinarians and their organizations have been engaging significantly in aspects of health in breeds and healthy breeding. Here is a recent position paper, The Role of Health Conscious Breeding and Genetic Testing in Reducing the Impact of Hereditary Disease, from the World Small Animal Veterinary Association (WSAVA). The Hereditary Disease Committee of the WSAVA is an IPFD Collaborator. -
The Harmonization of Genetic Testing for Dogs (HGTD) and several of our Leadership GTPs were mentioned in a recent article for The Atlantic, a news outlet that addresses US national debate on politics, business, foreign affairs, and cultural trends. -
DogWellNet.com Digest: Issue #21 - 20 December 2018
Dave St. Louis posted a article in DogWellNet.com Digest
News & Highlights Expertise, inspiration and insight... Breed education at its finest! Helpful Hint Make a Donation Stay Informed! -
Search for a Genetic Test provider / Lab by country. Find out general information on the lab (website, address, phone), contact information, quality assurance indicators and genetic tests offered. Go to the HGTD Search by Lab / Test Provider.
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DogWellNet.com Digest: Issue #19 - 27 August 2018
Dave St. Louis posted a article in DogWellNet.com Digest
News & Highlights Article in Journal Nature Puts Canine Genetic Testing Industry Under the Magnifying Glass Helpful Hint Stay Informed! -
A tool to help dog owners, breeders and veterinarians...the HGTD is an online searchable database providing information on genetic tests available for dog breeds, information on the tests themselves and quality control measures used by genetic test providers participating in the HGTD. Search out tests, diseases (phenes), and labs. Find resources for genetic counselling.
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Posted originally 26 July 2018; UPDATED 30 July 2018 Congratulations to the authors (Lisa Moses, Steve Niemi and Elinor Karlsson) for their commentary in Nature (and pdf, below). In “Pet genomics medicine runs wild” these authors have done a great job describing the myriad challenges related to genetic testing in pets. In fact, their concerns reflect those underpinning the International Partnership for Dogs (IPFD) initiative - the Harmonization of Genetic Testing for Dogs (HGTD). The IPFD, together with an impressive team of Partners and Collaborators (national kennel clubs, animal industries, veterinary, academic, welfare and other organizations) and our Leadership Sponsor Genetic Test Providers (GTPs), is providing a practical and effective tool to support consumers, veterinarians and researchers. However, as we face these challenges, it is important to not lose sight of the phenomenal potential for genetic testing to support health, well-being and welfare in dogs, as well as aspects of human-dog interactions. Although the authors of the commentary justifiably call for this segment to have some controls, at the moment, there is no regulatory body that has the authority to impose standards on this burgeoning and unregulated industry - especially not on an international basis or in a timely fashion. Rather than waiting for consensus on controls, the IPFD (an independent, non-profit, registered in Sweden), together with our Partners, Collaborators and experts, as well as concerned GTPs, has created a platform that will provide the foundation to address many of the concerns raised in the Nature article. -
To help to Sponsor this great initiative contact IPFD CEO Brenda.Bonnett@ipfdogs.com or Project Director Aimee.Llewellyn-Zaidi@ipfdogs.com . Genetic Test Providers can learn more about participating here. ______________________________________________________________________________________________ Here's an update following the launch of the Harmonization of Genetic Testing for Dogs (HGTD) and a look ahead at the next steps of this landmark initiative: -
Getting Started with Genetic Testing
Aimee Llewellyn-Zaidi posted a article in HGTD Genetic Counselling
This introduction to genetic testing can tell you more about the different types of testing that are available, and guidance on what resources can help you find, choose, and use, the right tests for your dog. -
DogWellNet.com Digest: Issue #14 - 23 January 2018
Dave St. Louis posted a article in DogWellNet.com Digest
In This Issue: News & Highlights A Look Ahead: IPFD and DogWellNet.com in 2018 Helpful Hint Stay Informed! -
ANTAGENE develops, produces and markets DNA tests for parentage certification and disease prevention in dogs and cats. The company is based near Lyon (France) and has a staff of 18 people. ANTAGENE offers more than 100 DNA tests in some 50 countries around the world. ANTAGENE solutions have been used by more than 80,000 breeders and veterinarians the world over. ANTAGENE is a proud sponsor of IPFD's Harmonization of Genetic Testing for Dogs Initiative.
