Adant Laura, Szymczak Virginie, Bhatti Sofie F M, Smets Pascale, Saunders Jimmy, Peelman Luc, Broeckx Bart J G
Department of Veterinary and Biosciences, Faculty of Veterinary Medicine, Ghent University, Heidestraat 19, Merelbeke, 9820, Belgium.
Centre for Clinical Genetics of Companion Animals, Department of Veterinary and Biosciences, Faculty of Veterinary Medicine, Ghent University, Salisburylaan 133, Merelbeke, 9820, Belgium.
BMC Vet Res. 2025 Feb 22;21(1):89. doi: 10.1186/s12917-025-04495-4.
In human medicine, questions regarding heritable disorders are dealt with by clinical geneticists and genetic counselors and both the field, their roles and the tools they use are well-defined. Even though the prevalence of diseases is far higher and scientific literature agrees on expectations towards an increased importance, this does not seem to be the case in veterinary medicine. While we hypothesize that there will be an overlap, some characteristics uniquely linked to veterinary medicine might not be covered.
To investigate this in-depth and in an attempt to define the field, we compared the internationally accepted definitions and its subparts on genetic counseling in human medicine with what is found in veterinary literature and what was seen in cats and dogs presented at our dedicated small animals clinical genetics/genetic counseling clinic. The results were used in a stepwise analysis that lead to a set of three potential definitions (i.e. on what genetic counseling is, who provides it and which tools are used) that fullfill four criteria (i.e. definitions have to be clear/self-explanatory, minimally sufficient, complete and valid).
The short version of the definition of genetic counseling in veterinary medicine is: "Genetic counseling is the process of helping animal owners and breeders understand - and adapt to - the medical, psychological, familial implications of genetic contributions to disease." Genetic counseling in small animal practice is currently provided by veterinarians and the tools that are used, can be divided in five categories. The signalment of the patients revealed that both cats (30%) and dogs (70%) and various breeds, the two sexes (37% males, 63% females) and all age categories (puppy/kitten-senior) were represented. Furthermore, 73% of the patients were referred by or needed to be referred to other disciplines.
These definitions are derived from human and veterinary literature, and an evaluation based on patient data has demonstrated that these definitions meet all the criteria of a correct definition (i.e. clear, minimally sufficient, complete and valid). With these definitions and case descriptions, our aim is to contribute to the formal foundation of genetic counseling in veterinary medicine.
在人类医学中，关于遗传性疾病的问题由临床遗传学家和遗传咨询师处理，该领域、他们的角色以及所使用的工具都有明确的定义。尽管疾病的患病率要高得多，并且科学文献一致认为其重要性会日益增加，但在兽医学中似乎并非如此。虽然我们推测会存在重叠，但一些与兽医学独特相关的特征可能未被涵盖。
为了深入研究并尝试界定该领域，我们将人类医学中关于遗传咨询的国际公认定义及其子部分与兽医学文献以及在我们专门的小动物临床遗传学/遗传咨询诊所就诊的猫和狗的情况进行了比较。结果用于逐步分析，得出了一组三个潜在定义（即关于遗传咨询是什么、谁提供遗传咨询以及使用哪些工具），这些定义满足四个标准（即定义必须清晰/不言自明、最低限度充分、完整且有效）。
兽医学中遗传咨询的简短定义是：“遗传咨询是帮助动物主人和饲养者理解并适应遗传因素对疾病的医学、心理和家庭影响的过程。”目前，小动物临床实践中的遗传咨询由兽医提供，所使用的工具可分为五类。患者的特征表明，猫（30%）和狗（70%）以及各种品种、两性（37%为雄性，63%为雌性）和所有年龄类别（幼犬/幼猫到老年）都有。此外，73%的患者是由其他学科转诊而来或需要转诊到其他学科。
这些定义源自人类和兽医学文献，基于患者数据的评估表明这些定义符合正确定义的所有标准（即清晰、最低限度充分、完整且有效）。通过这些定义和病例描述，我们旨在为兽医学中遗传咨询的正式基础做出贡献。
