Genetic Testing: practical dos and don'ts for cats.

IF 1.9 2区 农林科学 Q2 VETERINARY SCIENCES Journal of Feline Medicine and Surgery Pub Date : 2024-12-01 DOI:10.1177/1098612X241303603
Leslie A Lyons
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Abstract

Practical relevance: A significant number of genetic variants are known for domestic cats and their breeds. Several DNA variants are causal for inherited diseases and most of the variants for phenotypic traits have been discovered. Genetic testing for these variants can support breeding decisions for both health and aesthetics. Genetic testing can also be used to monitor for the health of, or provide targeted therapy for, an individual cat and, more widely, can progress scientific discovery. Technological improvements have led to the development of large panel genetic testing, which can provide many DNA results for a low cost.

Clinical challenges: With the development of large panel genetic testing has come companies that can carry out this service, but which company is best to use may not always be clear - more tests are not necessarily better. Usage and interpretation of genetic data and how the results are presented by commercial laboratories may also be confusing for veterinary practitioners and owners, leading to misinterpretations for healthcare, improper genetic counseling, and poor breed and population management.

Evidence base: The information provided in this review draws on scientific articles reporting the discovery, and discussing the meaning and implications, of DNA variants, as well as information from the Online Mendelian Inheritance in Animals (OMIA) website, which documents all the DNA variant discoveries. The author also provides suggestions and recommendations based on her personal experience and expertise in feline genetics.

Audience: This review is aimed at general practitioners and discusses the genetic tests that can be performed, what to consider when choosing a testing laboratory and provides genetic testing counseling advice. Practitioners with a high proportion of cat breeder clientele will especially benefit from this review and all veterinarians should realize that genetic testing and genomic medicine should be part of diagnostic plans and healthcare for their cat clients.

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基因测试:实用的猫做和不做。
实际意义:已知家猫及其品种有大量的基因变异。一些DNA变异是遗传疾病的原因,大多数表型性状的变异已经被发现。对这些变异的基因检测可以支持健康和美观的育种决策。基因检测还可用于监测单个猫的健康状况或为其提供针对性治疗,更广泛地说,还可促进科学发现。技术的进步导致了大型基因测试的发展,这种测试可以以低成本提供许多DNA结果。临床挑战:随着大规模基因检测技术的发展,出现了可以提供这项服务的公司,但哪家公司最好并不总是很清楚——检测越多不一定越好。遗传数据的使用和解释以及商业实验室如何呈现结果也可能使兽医从业人员和业主感到困惑,从而导致对医疗保健的误解,不适当的遗传咨询以及不良的品种和种群管理。证据基础:本综述提供的信息来自报道DNA变异发现和讨论DNA变异的意义和含义的科学文章,以及记录所有DNA变异发现的在线孟德尔动物遗传(OMIA)网站的信息。作者还根据她在猫科动物遗传学方面的个人经验和专业知识提供了建议和建议。读者:这篇综述是针对全科医生的,讨论了可以进行的基因检测,选择检测实验室时要考虑什么,并提供了基因检测咨询建议。拥有高比例猫饲养员客户的从业人员将特别受益于这篇综述,所有兽医都应该意识到基因检测和基因组医学应该成为他们猫客户诊断计划和医疗保健的一部分。
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来源期刊
CiteScore
3.90
自引率
17.60%
发文量
254
审稿时长
8-16 weeks
期刊介绍: JFMS is an international, peer-reviewed journal aimed at both practitioners and researchers with an interest in the clinical veterinary healthcare of domestic cats. The journal is published monthly in two formats: ‘Classic’ editions containing high-quality original papers on all aspects of feline medicine and surgery, including basic research relevant to clinical practice; and dedicated ‘Clinical Practice’ editions primarily containing opinionated review articles providing state-of-the-art information for feline clinicians, along with other relevant articles such as consensus guidelines.
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