2019 Lewis TW, Mellersh CS. Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. Plos One, https://doi.org/10.1371/journal.pone.0209864

DNA Testing - General

Subject: DNA Testing

Type: Research

Journal/Source: peer-reviewed research publication

Authors/Researchers: University, Kennel Club (IPFD Partners); HGTD Participants

Recommended For: Veterinarians, Owners/Breeders

This study is one of the very few to investigate the impact of DNA testing on changing a dog population's disease risk. The research looked at determining changes in frequency of disease causing mutations (how common a mutant gene is in a population) as a result of breeding-pair selection based on DNA test results. The results indicated that there has been an overall decline in disease causing mutations in the 8 diseases in 8 breeds investigated. While the paper recognises that there can be variations in how quickly a disease is reduced or eliminated (such as breed population size), it concluded that where dog breeders appear to incorporate DNA test results as part of breeding plans, there is success in decreasing the frequency of mutation. The study looked at: prcd-PRA in Labrador Retriever and Cocker Spaniel, HC in Staffordshire Bull Terriers, EIC in Labrador Retriever, PLL in Mini-Bull Terrier, EF and DE/CC in Cavalier King Charles Spaniel, PRA rcd-4 in Gordon, and Irish Setter, and spinocerebellar ataxia in Parson Russell Terrier. Within the UK at least, this represents a spectrum of large and small breeds, and generally "known" diseases within the breeds.

2019 Lewis TW, Mellersh CS. Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. Plos One, https://doi.org/10.1371/journal.pone.0209864

See also:

Nearly 20 Years of DNA Testing – What Can We Learn? :  IPFD CEO's blog post with discussion of wider implications of the study's approach and findings; based on Ian Seath's commentary (Dog-ED: Social Enterprise) with a breeder/health council perspective on the article above.

IPFD Harmonization of Genetic Testing (HGTD) and search on  the mentioned diseases for more information on the the condition, phenes, tests and more.