Study reveals ‘fantastic work’ of DNA testing

A decade of such tests has resulted in a massive drop in the number of puppies affected by inherited conditions being born.

A study has revealed responsible breeders are reducing the number of pedigree dogs at risk of often painful and debilitating inherited diseases by around 90%.
Research carried out by The Kennel Club (KC) and the AHT examined the long-term impact of dog breeders using DNA tests to avoid producing puppies affected by inherited conditions.

Gene mutations

The study, published in the scientific journal PLOS One, specifically examined DNA tests for eight diseases in eight breeds.
Researchers discovered approximately 10 years after each DNA test became available, the gene mutations that caused the diseases had decreased in each breed by 90% or more. The study examined data for diseases such as:

  • progressive rod cone degeneration-progressive retinal atrophy – an irreversible and blinding condition that cannot be treated
  • spinocerebellar ataxia – a neurological condition that leads to incoordination and loss of balance in puppies
  • primary lens luxation – a painful and blinding inherited eye condition


Dog montage.
Clockwise from top left: the Labrador retriever, Staffordshire bull terrier, Irish setter and cavalier King Charles spaniel were among breeds to have been analysed in the study.

The breeds analysed in the study were:

  • Labrador retriever
  • Parson Russell terrier
  • Gordon setter
  • Irish setter
  • cavalier King Charles spaniel
  • miniature bull terrier
  • cocker spaniel
  • Staffordshire bull terrier

Similar previous studies that investigated the frequency of disease mutations over time analysed smaller and more restricted data sets than the current study.
This unique study was able to take advantage of the way The KC records DNA test results in its extensive registration database.

Health screening

Tom Lewis – quantitative geneticist and genetics research manager at The KC, who co-wrote the study – said: “Our research highlights the fantastic work that has already been carried out by those breeders – and breed clubs – who have been using and promoting DNA tests for years, while similarly demonstrating why those who haven’t been health screening should be doing so.
“It also stresses why puppy buyers should only buy puppies from breeders who appropriately test their dogs, such as The KC Assured Breeders – not only for the immediate health reassurances, but also for the health of the wider dog population.”