Practical Genetic Counseling in Pure-Bred Population 

By : Jerold S. Bell, DVM, 

Tufts University School of Veterinary Medicine


Genetic defects are controlled by single, or a handful of genes, compared with the estimated 40,000 to 100,000 genes

in the dog genome.  Prudent breeding practices dictate that you  do not throw the puppy out with the bath water in

genetic disease control.  With the development of gene probe identification of defective genes and tests for carriers

of defective genes, practical genetic counseling can be provided to dog breeders.


A recommendation to eliminate all carriers of a defective gene from a gene pool may result in a significant loss of

genetic diversity.  Additional, previously unknown defective genes could be concentrated through genetic

bottlenecking.  A recommendation to breed heterozygous carriers to homozygous normal dogs prevents affected dogs,

and keeps the gene pool diverse.  However, it does not provide selective pressure to decrease the frequency of the

defective gene.


The goal of genetic counseling is to control the spread of defective genes effectively, while preserving the health and

genetic diversity of the purebred dog population.  There are different breeding program recommendations based on

several factors, including;


1 )

Populous breeds versus rare breeds: Genetic selection in a populous breed does not tend to

restrict genetic diversity.  Recommendations should be geared so that a defective gene does not

become widespread in the breeding population.  In rare breeds, genetic selection should not be 

so severe to further restrict genetic diversity in a small gene pool.


2 )

Widely dispersed versus recently mutated defective genes: Strict control should  be instituted

against recent mutations, to not allow them to become widespread.  Selection against a widely

dispersed gene depends on its frequency. 


3 ) 

High frequency versus low frequency defective genes:  High frequency genes require a long term

control program that will diminish the frequency, without altering the dynamics of the gene pool. 

Tests for carriers would be helpful, so that genetically normal dogs will not be selected against. 

Selection against a low frequency genefocuses on strict control when observed.


4 )

Single gene versus polygenic disorders:  Selection against polygenically controlled disorders must

focus on the affected or normal status of the full-sibs (littermates) of the breeding dogs and their

parents.  Knowledge of breadth of pedigree gives selection information on the possible genetic

variation in the individual breeding animals.


5 )

Disorders with tests for carriers, versus no test for carriers:  With a direct gene test, breeders

only have to know the results of the dogs they plan on breeding.  With phenotypic tests or no

tests for carriers, the knowledge of the carrier or affected status of related dogs is important.



Basic protocols for genetic counseling and breeding management of genetic disorders can be based on the known mode

of inheritance, and the availability of genetic tests:


Recessive disorders with a test for carriers:  Testable disorders allow breeders to use all breeding stock, and should

result in no loss of breeding lines or genetic diversity.  Quality individuals who test as carriers should be bred to

normal testing individuals, preventing additional affected individuals.  The offspring should be tested, and the carrier

parent should be replaced in the breeding program with a quality, normal offspring.  Additional carrier offspring should

not be placed in breeding homes; as the goal is to reduce the frequency of the defective gene in the population.  

As each breeder tests and replaces carriers with normal testing individuals, the problem for the breed as a whole



Recessive disorders without a test for carriers:  The problem with these disorders is the propagation and 

dissemination of unapparent carriers in the gene pool.  Relative risk pedigree analysis can provide objective risk

assessment for prospective breeding animals and planned matings.  This requires knowledge of the carrier or affected

status of close relatives in the pedigree; which is best accomplished through a breed club supported open health

registry.  By determining the average carrier risk in the population, breeders can be counseled to attempt matings

with risk factors lower than the breed average.  They should lower the carrier risk of their breeding stock with each

generation, by replacing higher risk individuals with a quality, lower risk offspring.  Breeding an individual once and

replacing it with an offspring allows breeders to improve their chance of moving away from a defective gene.  

The number of offspring placed in breeding homes should be limited, as the goal is to lose the defective gene, and not

increase the chance of propagating it.  A negative aspect of pedigree analysis is that it selects against families,

regardless of an individual’s normal or carrier status.  On the other hand, it allows for the objective risk assessment

and continuation of lines that might otherwise be abandoned due to high carrier-risk.


Autosomal dominant disorders:  Managing dominant disorders is usually straightforward, as all individuals carrying the

defective gene are affected.  Selecting a normal sibling, or parent for future breeding maintains the breeding line.  

If the disorder shows incomplete penetrance and there is not a genetic test, relative risk analysis and breadth of

pedigree analysis (below) can identify individuals with high carrier risk.


Polygenic disorders, or those without a known mode of inheritance:  These disorders require knowledge of the affected

or normal status of full-sibs to prospective breeding animals.  Individuals whose siblings are normal, and whose

parents’ siblings are normal have the greatest chance of carrying a low genetic load for the condition.  This breadth of

pedigree analysis is more important than normalcy in the depth of pedigree (parents and grandparents only.)  Affected

individuals can be replaced with  a normal sib or parent, and bred to a low-liability mate.  Breeders can replace the

higher risk parent with a quality, lower risk offspring, and repeat the process.


It is distressing to breeders when a genetic disorder is confirmed.  Positive and practical genetic counseling

recommendations can be offered to maintain breed lines and genetic diversity, and improve the overall health of




Biographical Sketch : Jerold S. Bell

DVM is a Clinical Assistant Professor, and Director of the Clinical Veterinary Genetics Course for the Tufts

University School of Veterinary Medicine.  He was trained in genetics and genetic counseling at Michigan

State University, and the University of Missouri.  His DVM is from Cornell University.  Dr. Bell lectures to

all‑breed and individual breed dog clubs.  He is the project administrator of genetic disease control programs

for national parent clubs. He performs genetic counseling through Veterinary Genetic Counseling, and

practices small animal medicine at Freshwater Veterinary Hospital in Enfield, CT.  

He and his wife breed Gordon Setters.