Introducing the Equinome Elite Performance Test
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1 Introducing the Equinome Elite Performance Test
2 Introduction to Equinome Equinome is the world leader in the research and development of state-ofthe-art novel genomic tools to assist the bloodstock industry in maximising the genetic potential of each Thoroughbred racehorse. Headquartered at University College Dublin (UCD), Ireland, Equinome is working with owners, breeders, trainers and agents in every major bloodstock region around the world, providing scientifically-supported genetic information to inform critical breeding, selection and training decisions. Equinome was established in 2009 as a result of groundbreaking research led by company founder, Dr Emmeline Hill, whose academic research programme has identified genetic contributions to racing performance in Thoroughbreds. This research resulted in a world-first discovery of a gene contributing to a specific athletic trait in Thoroughbred horses and the subsequent launch of the Equinome Speed Gene Test in In 2011, Equinome researchers characterised the different sets of genetic variants critical for elite performance in short-distance, middle-distance and long-distance racing. This development is now commercially available as the Equinome Elite Performance Test, which allows owners to identify those individuals with the greatest genetic potential for elite racing performance for each type of Thoroughbred. Equinome s ongoing investment in research and development activities continues to support highly productive synergies between world-class science and elite racehorse breeding and training. The company has established facilities at the UCD College of Agriculture, Food Science and Veterinary Medicine and at Jim Bolger s training yard in Co Carlow, Ireland. Equinome is also engaged with industry partners in Australasia, North America and Asia to assist in the development and validation of its pipeline of new DNA technologies. 2
3 Introduction to genetics Athletic potential in Thoroughbreds is influenced markedly by environment, management and training; however, it has long been accepted that there are important underlying genetic factors that make a major contribution to athletic performance. Pedigree studies have demonstrated that percent of the variation in racecourse performance is due to inherited characteristics. In a situation where individuals are cared for and trained in the same way, the genetic contribution to racing performance will be considerably more important. In other words, all other things being equal, the main differences between two individuals in a yard will be in the genes. Indeed, selection and breeding of racehorses is predicated on the belief that racing performance is inherited. All breeders intuitively understand genetics since each time a pedigree is consulted, it represents an attempt to capture and evaluate the genetic contributions from ancestors within that pedigree. Selection for superior racecourse performance during the past 300 years of Thoroughbred breeding has resulted in an elite athlete capable of speed and stamina. The availability of the horse genome sequence and the parallel development of sophisticated genomic tools have rapidly enabled the identification of DNA variation associated with athletic performance in Thoroughbreds. Genes that regulate respiration, metabolism, hormones and muscle strength have been of greatest importance in shaping the athletic characteristics of the Thoroughbred. What is the horse genome? The genome is the complete complement of genetic material within an individual and carries the instructions for building and maintaining a living organism. The genetic material, known as DNA, is represented by the letters G, A, T and C and various combinations of these letters make up the three billion letters of the genetic code. Approximately 21,000 genes are found within the genome, each gene providing the instructions for the production of a particular protein. Proteins are the building blocks of cells and are the physical representation of the genetic information encoded by the DNA that is passed from generation to generation. All individuals have the same number of genes. The differences between individuals result from differences in the spelling of the DNA code within genes. These differences are known as DNA variants. The DNA code for a particular gene may differ between individuals resulting in a difference in the protein and the expression of the trait. Are racehorses born or made? Natural selection in wild horses and more recent artificial selection within the Thoroughbred has given rise to adaptations associated with exercise and athletic performance. This has resulted in changes in the frequencies of advantageous DNA variants in genes that contribute to exercise characteristics among successful subgroups of the Thoroughbred population. The success of a racehorse therefore depends on a favourable environment and on inheriting the optimal combination of DNA variants within genes that have a significant influence on exercise performance. 3
4 Equinome Speed Gene Test Equinome has developed proprietary technology that can be used to predict the optimum race distance for an individual horse. In a gene responsible for muscle mass development, a specific position in the DNA code can contain either the DNA variant C or the DNA variant T. As each individual has two copies of the gene one inherited from the dam, one from the sire there are three possible combinations of the DNA variants:, or. What is a? What is a? What is a? Fast, Speedy, Sprint Type, Best distance: 5 f - 1 mile ( m) Fast, Middle-Distance Type, Best distance: 7-12 f ( m) Exhibits Stamina, Best distance: 10 f and over (2000 m and over) The distance ranges for 204 elite (Gr1/Gr2/Gr3/L) race winners that were, and. Prediction of Best Race Distance A series of research studies have found that each genetic combination (i.e., and ) is highly predictive of optimum race distance*. Average Best Race Distance Average Best Distance (furlongs) Research has also shown that the DNA variant used in the Equinome Speed Gene Test is the most powerful genetic indicator of best race distance in Thoroughbreds. The findings have been independently validated in published scientific studies using Thoroughbreds originating from the USA and Japan. 4 *These data have been peer-reviewed and published in a series of scientific manuscripts (see Equinome Research)
5 The genetic type cannot be determined from evaluation of the pedigree All individuals inherit two copies of each gene one from the sire and one from the dam. Therefore the mare and stallion each pass on just one of their gene variants (i.e. C or T ) to the foal. the most powerful genetic indicator of best race distance in Thoroughbreds A type horse will always pass on a C type gene variant to its offspring; similarly a will always transmit a T type gene variant. A horse is equally likely to transmit either a C or a T. The table below shows the potential outcomes from a mating between two horses. Sire C T C Dam T In this instance, 25% of the time this mating will produce a horse, 50% of the time it will produce a horse and 25% of the time it will produce a horse. This explains why two full-siblings may be two completely different types of horse, and therefore why this trait cannot be evaluated through pedigree analysis alone. Using the Equinome Speed Gene Test the genetic type can be determined with certainty. Manage Matings The potential outcomes from each breeding combination may be estimated if the genetic type of the dam and sire are known. With this knowledge mares and stallions may be matched to more consistently meet breeding objectives. Note: the stallion and mare make an equal contribution to the genetic type of the progeny for this trait. Dam 100% 50% 50% 50% 50% Sire 25% 50% 25% 100% 50% 50% 100% 50% 50% 100% 5
6 Equinome Elite Performance Test The Equinome Elite Performance Test can identify individuals with the greatest genetic potential for racecourse success. The premise It is well established that sprint and longer distance exercise have different metabolic and physiological requirements. For instance, each type of exercise differs in the requirement for oxygen-dependent respiration and metabolism. Also, research published by Equinome scientists has shown that the genetic requirements for shortduration, high-intensity exercise are substantially different than moderateintensity, longer-duration exercise. Therefore, different sets of genes will contribute to elite performance in, and horses. The research Genetic association tests were performed for 54,000 DNA variants distributed across the genome in 368 horses with disparate racecourse performance (i.e. elite [Group or Listed race winner] performance vs poor [non-winner and RPR < 80] performance). Multiple genomic regions were associated with performance ability, indicating that many genes contribute to racecourse performance. Importantly, different genomic regions were highlighted in the different groups of horses when defined by the Equinome Speed Gene Test as, and. This demonstrates that different sets of genes contribute to elite racing performance in the different race distance types. An additional set of 300 DNA variants were chosen for focused genetic association tests. The choice of DNA variants was informed by the function of the genes where they are located and the biological relevance to exercise physiology. The test was developed by evaluating the occurrence of these DNA variants in 1,051 horses* that had been trained for Flat racing in Ireland, UK, France, Australia, New Zealand and USA. All horses were greater than three years old. The test sample included 211 Group and Listed race winners (i.e. this represents an approximately 10 over-representation of elite performers in the population; the sample size was required to increase the statistical power). *All samples were collected with informed owners consent. The Equinome Elite Performance Test Gene Panels define Class Using state-of-the-art genomics technologies we have developed large panels of DNA variants that can now be used to distinguish between elite performers and poor performers within each distance category, which is first determined for a particular horse using the Equinome Speed Gene Test. There are three discrete test panels for, and horses. Approximately 80 genetic variants are tested for each panel. Each favourable DNA variant contributes to elite racing performance in an additive fashion. Each variant is assigned a weighting based on its contribution to racing ability. A genetic score for elite performance is then calculated from the combination of genetic variants at all genes tested in the panel. The combination of advantageous DNA variants determines whether a horse is genetically Class I, Class II, Class III or Class IV. test panel includes genes with functions associated with: test panel includes genes with functions associated with: test panel includes genes with functions associated with: 6 gluconeogenesis, central nervous system development, insulin regulation, lactate metabolism, vascularisation muscle contraction, oxidative phosphorylation, heart function, growth promotion oxygen sensing, central nervous system development, mitochondrial respiration, glucose utilisation, testosterone conversion, heart physiology and health
7 Distribution of racing performance within each genetic Class in a sample of 1,051 Flat racing Thoroughbreds (20% were elite race winners) Class I 0.50 TBE Winner No Wins Unraced 6 greater chance of being Gr1/2 winner than non-winner if Class I TBE Winner No Wins Unraced Gr 1/2 Gr 3/L 5% of the total population were Class I 46% of Class I horses were elite (Gr/L) winners 13% of Class I horses were non-winners Class II 0.50 TBE Winner No Wins Unraced 2.3 greater chance of being Gr1/2 winner than non- Gr 1/2 Gr 3/L TBE Winner No Wins Unraced winner if Class II 25% of the total population were Class II 32% of Class II horses were (Gr/L) winners 24% of Class II horses were non-winners Class III 0.50 TBE Winner No Wins Unraced lesser chance of being Gr1/2 winner than if Class I Gr 1/2 Gr 3/L TBE Winner No Wins Unraced % of the total population were Class III 18% of Class III horses were elite (Gr/L) winners 31% of Class III horses were non-winners Class IV 0.50 TBE Winner No Wins Unraced greater chance of being non-winner than Gr1/2 winner if Class IV % of the total population were Class IV 4% of Class IV horses were elite (Gr/L) winners 44% of Class IV horses were non-winners TBE Winner No Wins Unraced Definitions TBE (Thoroughbred Elite): won at least one Group or Listed race Winner: won at least one race No wins: competed in at least one race but did not win and had RPR < 80 Unraced: had not competed in a race by the end of 3-year-old season 7
8 8
9 Application of genetic information The genetic information provided by the Equinome genetic tests can be applied at all stages of an individual horse s lifecycle to inform and optimise critical breeding, selection, purchasing and training decisions. It is important to note that this information should be used to complement other selection criteria. Breed the Best to the Best and Test for the Best Selection of young stock (foals and yearlings) Determine whether a young horse is likely to be a more precocious yearling and early two year old, or a later-maturing type better suited to middle or longer distance races Incorporate the Equinome Elite Performance Test as part of a selection strategy to identify with more certainty those individuals least likely to perform at an elite level, thereby significantly reducing management and training fees Horses-in-training Increase strike rate through optimised training schedules Support decisions on rehabilitation of young horses that suffer injury at an early stage with knowledge on their genetic potential Breeding decisions Optimise your broodmare band by identifying the mares within your herd most likely to produce foals of the desired type Meet breeding objectives more consistently by selecting stallions with the most compatible Equinome Speed Gene type for each individual mare Stallion development/ promotion Attract and select the most compatible mares to enhance a stallion s profile, and maximise potential for young stallions to appear on first-season sire s list Sales Inform decisions on the appropriate reserve prices for horses going for sale Horses-in-training Maximise performance, minimise costs No. samples No. runners Total no. races won Mean earnings ( ) 20,440 36,968 Of the 1,051 horses in the research sample, 241 were categorised as Class IV. Scaling 1:10 for a farm producing 100 foals per annum to go into training, the table below examines the potential cost savings that could have resulted from pre-selecting these Class IV individuals in a typical population at an early stage, using solely the Equinome Elite Performance Test. Note: it is recommended that the genetic information is used as part of a wider suite of existing assessment tools in order to best inform critical selection decisions ,175 Total estimated earnings: 281,500 N = 142 two-year-olds in training with same trainer 2007 & 2008 Total estimated costs: Management/Livery costs (prior to training) (2 12,500 per horse per annum) 600,000 Training costs (2 30,000 per horse per annum) 1,440,000 2,040,000 Total estimated net savings: 1,758,500 9
10 Equinome Research Equinome has a dynamic and comprehensive research programme using state-ofthe-art genomics technologies to identify and characterise the molecular genetic variants underlying key performance and health traits in the Thoroughbred. Through our associations with elite breeders and trainers, Equinome has access to large numbers of top-class horses at various stages of training and competition that provide subjects for our scientific research programme. Equinome has a wellestablished and systematic scientific pipeline to commercialise the outputs from the research and development programme, thereby providing customers with the most accurate and informative tests for genetic potential and performance. Our strong commitment to scientific excellence is reflected in the calibre of scientific papers we have published in peer-reviewed scientific journals. Equinome scientists, led by Dr. Emmeline Hill, have been at the forefront of Thoroughbred performance genomics during the last decade and have published widely on gene activity in exercising muscle and the links between genome variation and performance traits in Thoroughbreds. The sophisticated multi-disciplinary approach has been designed to develop a comprehensive understanding of the biology of the exercising horse. We are committed to achieving scientific excellence in all aspects of our research activities, and ensuring the highest levels of scientific integrity within the tests we develop. Any tests that we have commercialised, and all future tests, must adhere to these core values. Equinome scientists have published more scientific papers on Thoroughbred exercise genomics than any other research group worldwide. Many of these manuscripts are available to view on our website ( or may be requested by ing info@equinome.com. 10
11 Directors Dr Emmeline Hill, Chairman Emmeline Hill is a co-founder and Chairman of Equinome. She is one of Ireland s most prominent genomics scientists and leads the Equine Exercise Genomics research group at the College of Agriculture, Food Science and Veterinary Medicine, University College Dublin (UCD), Ireland, where she is a lecturer in Equine Science. She joined UCD in 2002 with a B.A. Genetics (1995) and a Ph.D. in Molecular Population Genetics (2000). In 2004 she received a Science Foundation Ireland President of Ireland Young Researcher Award, Ireland s most prestigious award for young scientists, to investigate the genomics of performance in Thoroughbred racehorses. Her publication record includes articles in the leading academic journals Nature, Science, PLoS ONE, BMC Genomics and Animal Genetics. She is a member of the International Horse Genome Mapping Group and the International Horse Genome Sequencing Consortium. Her family has bred and raced Thoroughbreds for generations and she maintains strong industry links in Ireland and internationally. JS Bolger, Director Jim Bolger is a co-founder and Director of Equinome. He is a world class trainer of Thoroughbreds and has ranked among the top five Irish trainers for the last 30 years. Since 1977 he has trained over two thousand winners, including multiple World and European Champions. He has trained Group 1 winners in Ireland, England, France, Italy and Hong Kong. In 2008 he trained New Approach to win the Epsom Derby and to become World Champion three-year-old. He holds the Irish record of 125 winners on the flat in a single season. As well as a champion trainer he is a breeder of champions including Teofilo and Soldier of Fortune. Jim Bolger utilises Equinome s genetic tests in both his world class training and breeding operations. Awards and Accolades Science Foundation Ireland President of Ireland Young Researcher Award 2004 NovaUCD Campus Company Development Programme Start-Up Award 2009 Enterprise Ireland High Potential Start-Up 2010 Image Entrepreneur of the Year Award 2010 David Manley Business Entrepreneur of the Year Award 2011 Irish Times/InterTrade Ireland Innovation Awards 2011 (Shortlist) Prof. David MacHugh, Scientific Director David MacHugh is the Scientific Director of Equinome. He is Associate Professor of Genomics at UCD and has over 20 years of experience in the application of genetic technologies in the livestock sector. In 1996 he was a co-founder of IdentiGEN Ltd, the world s first genetic testing company for the agri-food industry. Currently he leads a research programme in livestock population and functional genomics. His research work has been published in: Nature, Proceedings of the National Academy of Sciences, Proceedings of the Royal Society, Genetics, PloS ONE, BMC Genomics and Animal Genetics. Donal Ryan, Managing Director Donal Ryan is the Managing Director of Equinome, with responsibility for the management of all commercial and financial activities. Prior to joining Equinome, he worked for over five years in the biotechnology industry, working with some of the world s leading biopharma companies on the design and start-up of facilities in Ireland and Spain. He holds a B.E. (Chemical) from UCD, and an M.B.A. from the UCD Michael Smurfit Graduate School of Business. 11
12 How to Order 1. Download a Sample Submission Form and a VET15 Sample Import Licence from our website ( or request copies by (info@equinome.com), or by phone ( ) 2. Return the Sample Submission Form to us with a blood sample from each horse - provide 4-5 ml un-coagulated blood sample per horse in a plastic purple cap EDTA tube (or equivalent) - clearly label each tube with the horse s name or a unique ID that you have kept for your reference - ensure all details on the Sample Submission Form match the name / unique ID on each blood sample tube - a copy of the VET15 Sample import licence must accompany all samples originating outside of the Republic of Ireland (available to download from 3. Our lab will analyse the samples and results will be delivered via registered post Test Option 1: Equinome Speed Gene Test Test Option 2: Equinome Speed Gene Test + Equinome Elite Performance Test (Note: the Equinome Speed Gene Test must be performed prior to the Equinome Elite Performance Test) Send Blood Samples to Equinome Laboratories UCD Veterinary Sciences Centre University College Dublin Belfield Dublin 4 Ireland Contact Us Equinome Limited, NovaUCD, Belfield, Dublin 4, Ireland. t e. info@equinome.com w.
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