DM testing - Page 2

I've been waiting for those names for 4, 5 years, Susie. So far, only he said, she said; very damaging to the breed. The 3 owners I knew followed up with copies of the autopsy reports and a detailed history of the dogs' treatment protocols. So at least 3 are documented. If the information is documented, then it should be shared.

The OFA is full of BS about testing every animal to eliminate DM or HD by breeding out the disease. Like the OFA the companies selling the genetic tests want everyone to get tested because they profit from the tests. The occurrence of a disease or genetic defect in an individual does not predict the occurrence of the disease or defect in their offspring except in the case of very simple single allele cases and even then the data is not complete. In most cases genes do not cause diseases or birth defects directly but through alterations in metabolic pathways and processes. There is just a correlation between the genetic marker and the disease and as any scientist will attest "correlation does not prove causation". The presence of the BRCA gene does not cause breast cancer in human beings it just has a high correlation with breast cancer occurrence because cells with BRCA variants do not produce as much of a cancer suppressing protein. Many women with the BRCA variant do not get breast in their lifetime and about 5% to 10% of breast cancer cases are thought to be hereditary. DM in GSD is likely as complicated or more so than breast cancer in humans and after billions of dollars and many years of scientific research there is no definitive cause or cure for breast cancer and likely never will be. For many diseases and defects a family history is as useful or more useful than genetic testing as a predictor of disease or defects in the offspring.

BRCA1 and BRCA2: The most common cause of hereditary breast cancer is an inherited mutation in the BRCA1 and BRCA2 genes. In normal cells, these genes help prevent cancer by making proteins that keep the cells from growing abnormally. If you have inherited a mutated copy of either gene from a parent, you have a high risk of developing breast cancer during your lifetime.

Although in some families with BRCA1 mutations the lifetime risk of breast cancer is as high as 80%, on average this risk seems to be in the range of 55 to 65%. For BRCA2 mutations the risk is lower, around 45%.

Breast cancers linked to these mutations occur more often in younger women and more often affect both breasts than cancers not linked to these mutations. Women with these inherited mutations also have an increased risk for developing other cancers, particularly ovarian cancer.

In the United States BRCA mutations are more common in Jewish people of Ashkenazi (Eastern Europe) origin than in other racial and ethnic groups, but they can occur in anyone.

Bubba, seriously - do you think one needs to do ANYTHING at all with a specific dog prior to using it for breeding? You seem to have a distrust of AKC, the SV, OFA, the country in general, the medical profession, veterinarians,  most other breeders, SV and AKC judges on and on. Is there anyone you trust to evalulate your dogs or do you do that yourself?

"Although in some families with BRCA1 mutations the lifetime risk of breast cancer is as high as 80%, on average this risk seems to be in the range of 55 to 65%. For BRCA2 mutations the risk is lower, around 45%."

Seems to justify a test, doesn´t it?

Maybe I´m the only one, but I really believe we ( present ) are not the end of all, but we are part of life and progress.
In case we stop or don´t even start research, because the (current) results are not 100%, we won´t better anything, be it for us or for our dogs, cats, cattle.

Science is an ongoing process, we learned a lot, but we still have to learn a lot ( I guess we will need to learn forever )
To do nothing = surrender / To not try = give up.
Science simply needs data, good or bad, otherwise no development.

What is the ability of the DM test promoted by the OFA to predict DM in the offspring of a mated pair of GSD? If the answer is I don't know or only 50/50 then using the genetic DM test is idiotic and a waste of time, money and will lead to good dogs being excluded from the gene pool needlessly. A complete family tree with a family history of DM in parents, grandparents, and close relatives will do more to predict DM in the offspring than the genetics based DM test that the OFA promotes. The ability of a genetic test to predict DM in the current generation living or individual deceased dog which is all that a post mortem can accomplish does not predict DM in the dog's offspring with any certainty. The trigger for BRCA testing for humans is being female and having a family history of breast cancer and that is for a genetics correlated disease that is perhaps the best studied of all genetics related diseases. Genetic counselors do not encourage all women to be tested for BRCA in cases where there is no history of breast cancer. If you have a dog that comes from parents with a family history of DM then testing is appropriate but until science has a better understanding of DM and it's causes as well as genetic tests that are both accurate and precise for DM then testing every dog for DM is not warranted based on science.

with DM testing NO dog needs to be excludet for breeding,

stop making excuses, I do test all my breedingdogs on hips, elbows and DM, just got results in from full litter of second generation I tested and I see no abnormalities

im in dogs 30 years and seen that most abnormalities in expected results are result of people cheating and sending in swabs etc. from other dogs than mentioned on paper

Duke. I don't know where the idea that the DM test is intended to eliminate dogs from breeding. OFA makes that very clear on their site.

It cost me $38 to get a DNA DM test from DDC, I am pretty sure the person who was running any of the tests was making near that an hour.. I seriously doubt OFA is making gobs of money doing what they do..

A $38 dollar test is worth all it costs. In human testing ( and they cost much, much more ) it is not uncommon for genetic test results to be inconclusive or the test may show an unknown variant. In those cases the test may be repeated two or three times or the results may be simply declared inconclusive after repeated testing gives no clear result. A $38 test is not going to have the accuracy and precision to find all variants and inconclusive results such that dogs may be inaccurately lumped into one or the other group as carrier or clear. There is always the possibility of a false positive or negative with any testing procedure. There is no test or lab that is 100% accurate or precise in their testing methods. This is one reason that human testing for the BRCA gene is encouraged in women with a family history of breast cancer but not for all women. Since 95% or more of women do not have BRAC mutations the testing of a large population would result in a several if not many false positives, false negatives, and inconclusive results. The legal implications of women going through radical medical procedures or delaying care based on false data generated from wholesale testing makes the medical testing companies lose sleep. The limiting of the BRCA testing to primarily women with a history of breast cancer makes the testing much more likely to yield useful results to make informed medical decisions. DM is similar to ALS in humans and about 90 to 95 percent of ALS cases are sporadic and are not inherited. The inheritance pattern for ALS is more complicated than a simple recessive pattern and it may also be so in dogs for DM as several genes are involved in ALS familial inheritance. It is likely the inheritance pattern for DM in dogs is more complex than what current research proposes just as HD is known to be a complex disease or defect. More on ALS below which was the model that led to research on the SOD1 gene in dogs but there are many other genes associated with ALS than the SOD1 gene and SOD1 is not the most important gene in humans.

An estimated 5 to 10 percent of ALS is familial (inherited ) and caused by mutations in one of several genes. The pattern of inheritance varies depending on the gene involved. Most cases are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Less frequently, ALS is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Because an affected person's parents are not affected, autosomal recessive ALS is often mistaken for sporadic ALS even though it is caused by a familial genetic mutation.

Very rarely, ALS is inherited in an X-linked dominant pattern. X-linked conditions occur when the gene associated with the condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Some people who inherit a gene mutation known to cause ALS never develop features of the condition. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with a mutated gene do not.

It is like all other tests and studies: INCONCLUSIVE. Nothing is every finished in the dog world, do you all think they don't want us to know. poor dogs. MFPOS...