Skip to main content
ARS Home » Northeast Area » Beltsville, Maryland (BARC) » Beltsville Agricultural Research Center » Animal Genomics and Improvement Laboratory » Research » Publications at this Location » Publication #421281

Research Project: Increasing Accuracy of Genomic Prediction, Developing Algorithms, Selecting Markers, and Evaluating New Traits to Improve Dairy Cattle

Location: Animal Genomics and Improvement Laboratory

Title: Invited review: Management of genetic defects in dairy cattle populations

Author
item COLE, JOHN - Council On Dairy Cattle Breeding
item BAES, CHRISTINE - University Of Guelph
item EAGLEN, SOPHIE - National Association Of Animal Breeders
item LAWLOR, THOMAS - Holstein Association Usa, Inc
item MALTECCA, CHRISTIAN - North Carolina State University
item ORTEGA, M. SOFÍA - University Of Wisconsin
item Van Raden, Paul

Submitted to: Journal of Dairy Science
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 1/20/2025
Publication Date: 2/20/2025
Citation: Cole, J.B., Baes, C., Eaglen, S.A., Lawlor, T.J., Maltecca, C., Ortega, M., Van Raden, P.M. 2025. Invited review: Management of genetic defects in dairy cattle populations. Journal of Dairy Science. https://doi.org/10.3168/jds.2024-26035.
DOI: https://doi.org/10.3168/jds.2024-26035

Interpretive Summary: When related animals are mated to one another there is the possibility that genetic defects will be revealed if mutations are inherited from both sides of the pedigree. The widespread availability of high-density DNA genotypes for millions of dairy animals has made it possible to track known defects as well as identify previously unknown defects which cause early embryonic losses. The United States and Canada depend on informal cooperation among farmers, purebred cattle associations, artificial insemination companies, and researchers to identify emerging defects and identify causal defects. The structure of a potential cooperative system to support long-term population management is described.

Technical Abstract: When related animals are mated to one another, genetic defects may become apparent if mutations are inherited from both sides of the pedigree. The widespread availability of high-density DNA genotypes for millions of animals has made it possible to identify and track known defects as well as to identify and track previously unknown defects which cause early embryonic losses. While the number of known defects has increased over time, the availability of carrier information has been used to dramatically reduce the frequency of many disorders. The economic impact of known genetic defects in the US dairy cattle population has decreased by ~2/3 since 2016, due largely to the avoidance of carrier-to-carrier matings. Effective population management requires robust systems for reporting new defects, identification of causal mechanisms, and development of commercially available tests. The United States and Canada depend on informal cooperation among many groups, including farmers, purebred cattle associations, artificial insemination companies, and researchers, to identify emerging defects and identify causal defects. The structure of a cooperative system to support long-term population management is described. This review provides a comprehensive overview of the landscape surrounding genetic defects in dairy cattle. Topics covered include current defects of relevance to commercial dairy producers, trends in carrier frequencies over time, how best to manage these defects, strategies for detecting emerging diseases, and marketing and trade considerations.