The Effects of Genetic Testing: Constructive or Destructive

The Effects of Genetic Testing: Constructive or Destructive?
By Jerold S. Bell, DVM, Tufts University School of Veterinary Medicine

(This article originally appeared in the June, 2001 issue of the AKC Gazette; reprinted here by permission from Dr. Bell)

Every breed has genetic disorders. Finding tests that identify carriers of the genes which cause these disorders is a goal in all breeds. Once a genetic test is found, however, it is a double-edged sword: Its use can enable breeders to improve a breed or devastate it.

Without genetic tests, the number of dogs that can be identified as carriers is low, even though many dogs may be suspected of being carriers because they have relatives that are known to be affected. Without tests, though, genetic-disease control involves breeding higher-risk dogs to lower-risk dogs. Dog breeds have closed gene pools; in other words, the diversity of genes in a given breed is fixed. The number of dogs removed from consideration for breeding based on concerns regarding a specific genetic disease is usually low, and therefore does not greatly alter the breed’s gene pool, or diversity.

However, once a genetic test is developed that allows breeders to positively determine if a dog is a carrier of a defective gene, many owners are likely to remove carrier dogs from their breeding stock. Although doing so is human nature, this temptation must be overcome. Any quality dog that you would have bred if it had tested normal should still be bred if it tests as a carrier.

In such circumstances, carriers should be bred to normal-testing dogs. This ensures that affected offspring will not be produced. Carrier breeding stock should be subsequently replaced with normal-testing offspring that exceeds it in quality. If the only quality offspring is also a carrier, then use that offspring to replace your original carrier. You have improved the quality of your breeding stock, even though the defective gene remains in this generation. It is certainly true, though, that the health of the breed does depend on diminishing the carrier frequency and not increasing it. You should therefore limit the number of carrier-testing offspring that you place in breeding homes. This does not mean, however, that you should prevent all of them from being bred. It is important to carry on lines. A test that should be used to help maintain breed diversity should not result in limiting it.

Consider All Aspects
We know that most dogs carry some unfavorable recessive genes. The more genetic tests that are developed, the greater chance there is of identifying an undesirable gene in your dog. Remember, however, that your dog is not a single gene, an eye, a hip, or a heart. Your dog carries tens of thousands of genes, and each dog is a part of the breed's gene pool. When considering a breeding, you must consider all aspects of the dog - such as health issues, conformation, temperament and performance - and weigh the pros and cons. When a good-quality dog is found to carry a testable defective gene, there is a better option than removing that dog from your breeding program. That option is to breed it, so that you can keep its good qualities in the gene pool, and then replace it in your program with a normal-testing dog.

There are breeders who contend that no more than 10 percent of carrier dogs should be removed from breeding in each generation. Otherwise, they say, the net loss to the gene pool would be too great. In fact, less than 10 percent of all dogs in a breed are ever used for breeding. Dog breeds do not propagate according to what is known as the Hardy-Weinberg equilibrium, where all members of a group reproduce and pass on their genes to the next generation. Breeders already place tremendous pressure on their gene pools through selective breeding decisions. Indeed, breeders who focus their selective pressure on the more elusive traits in their dogs, rather than on testable and predictable single-gene conditions, are right to do so.

The Dangers
It is important that breed clubs educate their owners on how genetic tests should be properly interpreted and used. History has shown that breeders can be successful in reducing breed-wide genetic disease through testing and making informed breeding choices. You should remember, however, that there are also examples of breeds that have actually experienced more problems as a result of unwarranted culling and restriction of their gene pools.

These problems include: reducing the incidence of one disease and increasing the incidence of another by repeated use of stud dogs known to be clear of the gene that causes the first condition; creating bottlenecks and diminishing diversity by eliminating all carriers of a gene from the pool, instead of breeding and replacing them; and concentrating on the presence or absence of a single gene and not the quality of the whole dog.

Breeders are the custodians of their breed's past and future. "Above all, do no harm" is a primary oath of all medical professionals. Genetic tests are powerful tools, and their use can cause significant positive or negative changes. Breeders should be counselled on how to utilize test results for the best interests of the breed.

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