Introduction Improvement of offspring genetic health begins with an understanding of the selection tools that are available and the ethical responsibilities to use these tools in assisting with breeding decisions.1 Discovery of genetic markers of disease in companion animals and the advent of readily available at-home testing kits increased testing for genetic disease in companion animals.2 Dog’s breed identification testing is performed to fulfill owner’s interest and curiosity. However, knowing that their pet carries a genetic mutation for a specific medical issue might have important clinical implications for the future care of the pet. Although the ability to estimate an individual animal’s risk of genetic disease has become increasingly available,3,4 accessible resources to navigate test interpretation and clinical implications of the findings might be inadequate, leaving owners and veterinarians with many unanswered questions.5,6 Veterinarians, especially those working in general practice or having an interest in theriogenology, are often the first line of contact for evaluation of an animal suspected for a familial disease or a genetic problem. Genetic diseases are of significant concern for veterinarians and their patients. A genetic online veterinary counseling service was created to provide a forum so that the complex nature of genetic disease could be better navigated and discussed. To the authors’ knowledge, this is the first database of its kind providing a free, readily available counseling service. Services are provided by a university veterinary genetics laboratory in conjunction with the theriogenology services of 2 veterinary colleges. Goals are to provide information regarding familial diseases, specific mutations, and genetic test interpretation to veterinarians, pet breeders and owners. Veterinary genetic counseling service: a preliminary report Katie Withowski,a Alyssa Helms,b Victor Stora,c Kathryn Meursa aDepartment of Veterinary Clinical Sciences, North Carolina State University, Raleigh, NC bDepartment of Small Animal Clinical Science, Virginia-Maryland College of Veterinary Medicine, Blacksburg, VA cReferral Center for Animal Models of Human Genetic Disease, University of Pennsylvania, Philadelphia, PA Abstract Data generated from an online veterinary genetics counseling service from November 1, 2018 to October 31, 2019 were reviewed. Data were tabulated regarding the individual submitting the inquiry and relationship to the pet, species, breed, and medical issue(s) thought to be familial. Inquiries were assigned to 1 or more of the following: risk assessment and heritability, pre-breeding testing and pedigree review, and information regarding a specific mutation or minor health concern. This study demonstrated that clients are desirous for information that could help promote health in canine companions. Furthermore, there is an interest and need for additional genetic resources for both veterinarians and owners. Keywords: Canine, genetic counseling, heritability, genetic testing Objective of this paper was to review 1 year data generated from this service and provide a summary of the types of questions and areas of concerns that veterinarians and owners submitted regarding familial diseases. Materials and methods Consultations were provided by a team including a veterinarian with a PhD in genetics, a veterinarian who had completed a medical genetics residency, and 2 theriogenology residents in combined residency/medical genetics programs. The service was promoted both through its location on the genetic testing website (https://cvm.ncsu.edu/nc-state-vet-hospital/small-animal/ genetics/) and through the American Kennel Club-Canine Health Foundation. Consultation requests from November 1, 2018 until October 31, 2019 were gathered and tabulated. Information on the individual submitting the inquiry and their relationship to the pet was obtained. The term breeder was defined as any person who owns or plans to own an animal intended for breeding, or has an animal already used to produce progeny. Pet owner was defined as any person who owns or plans to own an animal not intended for breeding purposes. A veterinarian acted on behalf a client where a valid veterinary-client-patient relationship existed. Patient demographics including species, breed, and medical issue(s) recognized as familial were collected. Each inquiry was assigned to 1 or more of the following: risk assess- ment and heritability estimates, pre-breeding testing, pedigree record review, information regarding a specific mutation (either to determine presence or have results analyzed), and minor Clinical Theriogenology 2021; 13: 77 health concern (including coat color, breed make-up, and age). Results Thirty-five submissions (Table 1) were received and evaluated through the online genetic testing portal during the 12-month interval. Over half (63 %; 22/35) of the submissions were from pet breeders with 2 of those indicating breed club affiliation with the intent to distribute knowledge to their respective breed club. Of the remaining submissions, 20% (7/35) were pet owners with questions regarding an individual animal and 17% (6/35) were veterinarians submitting on behalf of a client with questions regarding an individual animal, unrelated to breeding. Although the service was provided for all species, all submissions were for dogs. Inquires represented dogs in 23 American Kennel Club recognized breeds, and 4 mixed breed, 2 non-American Kennel Club breeds, and 1 foundation stock service breed. Overall, 75% (26/35) of the inquiries were related to breeding an animal and the impact of a familial trait on the breed overall and 25% (9/35) were inquiries regarding the impact of a trait on an individual pet animal not intended for breeding. Inquiries regarding risk assessment and heritability were most common (17 inquiries), followed by pre-breeding testing and pedigree record review (9), information regarding a specific mutation (either to determine presence or have results analyzed (6), and of minor health concern (6 [including coat color, breed make- up, and age]). Distribution of inquiries is summarized (Figure). Genetic consultations are categorized by organ system (Table 2). Largest number of inquiries included questions regarding neurologic, musculoskeletal, and ophthalmic diseases or disor- ders. Although kinked tails and umbilical hernias are seemingly relatively benign issues, kinked tails could be indicative of other spinal abnormalities and could be disqualifications in confor- mation showing for certain breeds. Similarly, umbilical hernias Breeds represented Number of inquiries Topic of inquiry Labrador Retriever 4 Ocular certification; hepatitis with copper accumulation; hemangiosarcoma; coat color Mixed breed 4 Coat color; age testing; breed identification & dilated cardiomyopathy; deafness Australian Shepherd 2 Breed screening pre-breeding & coat color; degenerative myelopathy Golden Retriever 2 Cataracts American Bully 1 Breed screening pre-breeding Beagle 1 Degenerative myelopathy Bearded Collie 1 Coat color Black Russian Terrier 1 Epilepsy Boston Terrier 1 Deafness Cairn Terrier 1 Breed screening pre-breeding Cavalier King Charles Spaniel 1 Midline defect (cleft palate), kinked tail, umbilical hernia & hip dysplasia Chinese Shar-Pei 1 Persistent right aortic arch & megaesophagus Clumber Spaniel 1 Midline defect (bifid nose) & umbilical hernia Doberman Pinscher 1 Dilated cardiomyopathy & Von Willebrand’s Disease Giant Schnauzer 1 Hypothyroidism Great Dane 1 Polycythemia Vera Labradoodle 1 Hypoadrenocorticism Leon Berger 1 Hip dysplasia Miniature Schnauzer 1 Breed screening pre-breeding Norwich Terrier 1 Norwich Terrier Pembroke Welsh Corgi 1 Degenerative myelopathy & cystic endometrial hyperplasia-pyometra complex Portuguese Water Dog 1 GM1-gangliosidosis GM1-gangliosidosis 1 Breed screening pre-breeding Standard Poodle 1 Keratoconjunctivitis sicca & hypoadrenocorticism Vizsla 1 Cataracts Whippet 1 Lung lobe torsion, skin allergy & hemangiosarcoma Table 1. Number of inquiries for each breed and topic of inquiry Clinical Theriogenology 2021; 13: 78 might have a hereditary basis and could have larger implications regarding a dam’s ability to carry a litter to term successfully. Discussion The majority of inquiries to the genetics consultation service were from individuals self-identified as dog breeders; however, almost 40% of the inquiries came from dog owners or vete- rinarians requesting information regarding an individual pet indicating increased interest in familial disease beyond that needed for breeding purposes. Although inquiries were made most commonly regarding purebred dogs, mixed breed dogs were also represented. There were zero inquiries regarding familial health issues in cats or other species. This could simply be a reflection of promotion of the program through the American Kennel Club-Canine Health Foundation. However, it could also be indicative of a lesser understanding or interest in familial disease in the cat. Promotion of this tool to cat breeders and cat owners might be beneficial to draw attention to feline familial health concerns. There were 4 inquiries regarding mixed breed dogs indicating an interest in genetics and familial disease, even in mixed breed dog populations. The most common disease or disorder inquiries appeared to parallel the commonality of diseases that occur across canine population and included: cataracts, degenerative myelopathy, deafness, endocrine disease, cancer (hemangiosar- coma), and dilated cardiomyopathy.8,9 However, some inquiries were in diseases to be familial (lung lobe torsion) or without a well-known breed predilection for an issue. This might be associated with an increased interest and curiosity regarding genetics as a cause of medical issues even in situations where it is not clearly a familial issue. Questions regarding risk assessment, heritability and pre-breeding screening were most common. However, questions regarding genetic test interpretation were also frequent and illustrate the important need for increased availability and promotion for additional guidance in this area. This study demonstrated the interest and need for additional genetic resources for veterinarians and owners who have access to genetic tests. Careful use of genetic information (refer ‘selected genetic resources for veterinarians and clients’) might help to prevent or decrease disease occurrence in companion animals. However, the impact of genetic testing on animal health is likely dependent on the owner and veterinarian understanding the genetic information obtained from the test and its possible applications.10 As these records imply, clients are interested in information that could help promote the familial health of their canine companions. As concerted efforts are made in implementing canine genetic counseling recommendations, a shift in the health of dogs might be incrementally improved with both time and knowledge.1 Conflict of interest None to report. Figure. Distribution of inquires Organ System Disease, Disorder or Condition of Concern Neurologic Degenerative myelopathy3 Deafness2 GM1-gangliosidosis Epilepsy Ophthalmic Cataracts3 Keratoconjunctivitis sicca Digestive Hepatic fibrosis Megaesophagus Hepatitis with copper accumulation Respiratory Lung lobe torsion Urogenital / Reproductive Cystic renal dysplasia Ectopic ureter Cystic endometrial hyperplasia-pyometra complex Endocrine Hypoadrenocorticism2 Hypothyroidism Musculoskeletal Midline defects2 Umbilical hernia Kinked tail Hip dysplasia Cardiovascular Dilated cardiomyopathy2 Persistent right aortic arch Integumentary Skin Allergies Other Cancer risk – hemangiosarcoma2 Von Willebrand’s Disease Polycythemia Vera Table 2. Genetic consultations categorized by organ system (number within parenthesis indicates total consults) Clinical Theriogenology 2021; 13: 79 Acknowldgements Authors thank Dr. Diane Brown for her vision of a greater understanding of familial disease in the dog and the applica- tion of this knowledge to the improvement of canine health. Selected genetic resources for veterinarians and clients Orthopedic Foundation for Animals/ Canine Health Information Center Database, statistics by breed, disease overview, DNA tests, research, health screening clinic search https://www.ofa.org/ Canine Health Foundation Review of the current state of genetic testing in dogs, a living resource https://www.akcchf.org/educational- resources/library/articles/review-of-the- current-state.html The International Partnership for Dogs (in collaboration with CHF, WASAVA and others) Harmonization of genetic testing for dogs by breed, disease or test, labs https://dogwellnet.com/ctp/ UC Davis Veterinary Genetics Laboratory DNA testing https://vgl.ucdavis.edu/ UPEI CIDD Database Canine inherited disorders database https://cidd.discoveryspace.ca/index.html UPenn PennGen DNA testing https://www.vet.upenn.edu/research/ academic-departments/clinical-sciences- advanced-medicine/research-labs-centers/ penngen References 1. 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