Report on the EAOD Research Project

[Journey]

Hey Mike, 

 

I know everyone is a volunteer. If they don't want to answer questions that's fine, I understand. However, when information given from one party completely contradicts the other, folks begin to wonder. Mark shared above that they shared confidential details, that's good to know, and had I not asked I wouldn't have known. Do I need to know, hard to say, to be told not to ask when I too contributed..won't happen again here on these boards.  

[Mark Billadeau]

All of the researchers the ABCA has worked with (over the time frame I’ve been involved) have shared confidential information with the committees.

[backtoblack]

Can you say how much difference the one additional 4th marker has made in this test, as far as prediction value, as compared to the first 3 markers found in the original work? Another words, will the 4th marker give different breeding decisions than would be made with the 3 markers found?

 

[Mark Billadeau]

None

Somehow the original 3 markers were near perfectly predictive of EAOD (despite not being the causative mutation) while the 3 markers plus the new one will indicate significant risk of getting EAOD and it is not known if all dogs with the risk allele will develop EAOD.

[backtoblack]

Thanks Mark  So it is the same as before, all 4 markers are linked, the original 3 are now known to be linked to the newly found forth and same as before, either clear, one (carrier) or two (possibly affected) marker clusters for results? 

[Mark Billadeau]

Let’s be very clear about what these marker tell us.  These markers are correlated with those dogs that did develop EAOD; we knew the EAOD status of the dogs and then measured the markers.  Correlation does not equal causation; therefore, the genetic results of these these markers indicate risk of developing EAOD.

The location of the mutation (region on a specific chromosome identified by several SNPs) has not moved.  Additional studies have eliminated one or more proposed exact locations (or identities of genetic code) on the chromosome of the mutation.

Reading about SNPs, where they are located along the full genetic sequence, and how they are used in genetic studies may help you better understand the ongoing EAOD research.

[Eileen Stein]

9 hours ago, backtoblack said:

Thanks Mark  So it is the same as before, all 4 markers are linked, the original 3 are now known to be linked to the newly found forth and same as before, either clear, one (carrier) or two (possibly affected) marker clusters for results? 

What do you mean by "before"?  Could you give a citation for "the original 3"?

[Miss_M]

The waiting game is over - My dogs test results just came in this morning. Both Clear on EAOD, so thankfully won't have to worry about neither the dogs nor their offspring.
Haven't ordered a test for my EOD dog, thought it was waste of money as we know he's deaf  
But will be interesting to see the carrier/affected rate when more is tested. 

[Journey]

On 8/4/2019 at 7:22 AM, Eileen Stein said:

What do you mean by "before"?  Could you give a citation for "the original 3"?

https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1002898

[GentleLake]

On 8/9/2019 at 1:32 AM, Miss_M said:

Haven't ordered a test for my EOD dog, thought it was waste of money as we know he's deaf  
But will be interesting to see the carrier/affected rate when more is tested. 

Your second sentence is the reason you should consider having your EAOD dog tested. It's only by having more dogs tested that the true implications of this disease can be accurately calculated.

Back before hip X-rays were routine I sent films a very obviously dysplastic dog in to OFA so that her info would be entered into the stats.

How can you hope to ever see a true carrier/affected rate if you don't test and submit the data? Withholding positives on these things only skews our understanding of how widespread conditions like these are. And isn't there a chance that having the DNA of more affected carriers, as opposed to at risk but not actually affected, could eventually lead to discoveries about why penetrance is incomplete?

IMO it's money well spent.

[Journey]

3 minutes ago, GentleLake said:

How can you hope to ever see a true carrier/affected rate if you don't test and submit the data? Withholding positives on these things only skews our understanding of how widespread conditions like these are. IMO it's money well spent.

It's only money well spent if the data is valid, published and peer reviewed. Otherwise, it's just blind faith, an open wallet, and one company with total control.

[Eileen Stein]

On 8/3/2019 at 10:24 PM, backtoblack said:

Thanks Mark  So it is the same as before, all 4 markers are linked, the original 3 are now known to be linked to the newly found forth and same as before, either clear, one (carrier) or two (possibly affected) marker clusters for results? 

 

On 8/4/2019 at 8:22 AM, Eileen Stein said:

What do you mean by "before"?  Could you give a citation for "the original 3"?

 

2 hours ago, Journey said:

https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1002898

Journey, if backtoblack did indeed mean the 3 markers cited in the Yokoyama article when she said "the original 3," then what she wrote is incorrect.  The four markers being used in the Genoscoper test are not the three cited in the Yokoyama article plus one more. 

[Miss_M]

On 9/9/2019 at 11:31 PM, GentleLake said:

Your second sentence is the reason you should consider having your EAOD dog tested. It's only by having more dogs tested that the true implications of this disease can be accurately calculated.

Back before hip X-rays were routine I sent films a very obviously dysplastic dog in to OFA so that her info would be entered into the stats.

How can you hope to ever see a true carrier/affected rate if you don't test and submit the data? Withholding positives on these things only skews our understanding of how widespread conditions like these are. And isn't there a chance that having the DNA of more affected carriers, as opposed to at risk but not actually affected, could eventually lead to discoveries about why penetrance is incomplete?

IMO it's money well spent.

I know, But also need to mind my money and put them where it makes sense.

 

Have a studdog in mind i think might be either affected or carrier and rather want to spend the money om getting him tested even though he's not my dog, than testing a neutured dog i already know is affected.

 

I sure do wish i had the money to test my deaf dog. But have to choose and instead put the deaf dogs pedigree on the facebook groupe, and the websitet for EOD dogs. 

[Mark Billadeau]

On 9/9/2019 at 5:31 PM, GentleLake said:

Your second sentence is the reason you should consider having your EAOD dog tested. It's only by having more dogs tested that the true implications of this disease can be accurately calculated.

I agree with this statement when the test is for the causative mutation of a disease.  Marker tests are not for the causative mutation.

[Eileen Stein]

I see what you're saying, Mark, but I'm not sure I fully agree.  You would take a causative mutation test to get reliable information about your dog.  Miss M knows that her dog is deaf, so she is not seeking information about her dog.  If she took the test, it would be mainly for research purposes, to add to the number of dogs testing the predictive value of the markers, and the accuracy of the prevalence data they purport to show. 

But I fully understand the financial decision she made.

[Mark Billadeau]

The argument stated (by others) for having an known affected dog tested was to help minimize sampling bias in the reported rates of the genotypes in the population.

The breed distribution of genotypes for a causative mutation are useful; I don’t see the utility in accurately knowing the distribution of genotypes for non-causative genetic markers (like the current EAOD tests).

How individuals and breed organizations use tests for causative mutations will/should be different than how marker tests are used.  A more detailed discussion of the EAOD MARKER tests will be posted soon.

[Journey]

On 9/20/2019 at 1:06 PM, Mark Billadeau said:

The argument stated (by others) for having an known affected dog tested was to help minimize sampling bias in the reported rates of the genotypes in the population.

The breed distribution of genotypes for a causative mutation are useful; I don’t see the utility in accurately knowing the distribution of genotypes for non-causative genetic markers (like the current EAOD tests).

How individuals and breed organizations use tests for causative mutations will/should be different than how marker tests are used.  A more detailed discussion of the EAOD MARKER tests will be posted soon.

Is it time for that "more detailed discussion of the EOAD marker test" yet?

[Mark Billadeau]

As you are well aware (you have been told), Hannes Lohi’s research lab has been closed down due to Finland’s Covid-19 lockdown (no lab work, no Baer testing of dogs, etc). You know you are asking questions for which we cannot provide answers; so why ask them?  We have no influence over Finland’s lockdown.  I am sorry, but Covid-19 is more important than EAOD (safety of researchers, safety of owners who volunteer their dogs, and resources refocused on SARS-CoV-2 over other studies).

[Journey]

Thanks Mark, you missed the point again..

[Mark Billadeau]

Your question was about having a “more detailed discussion of the EOAD marker test”.  A detailed discussion requires detailed questions; not the open ended one you posted.

[Journey]

Actually my question was asked as you posted 15 months ago about a "more detailed discussion".  But I do understand, 15 months later and there is nothing new. 

[Mark Billadeau]

I do not see a question posted by you in Sept 2019, only statements and a link.

[Journey]

I did not post it - you did - on Sept 20, 2019. I was simply asking about a follow up, 15 months later. Based on the last sentence of *your* post.

[Mark Billadeau]

it was posted Sept 27, 2019
 

The Current State Of Testing For Early Adult Onset Deafness (EAOD)

[Journey]

Merry Christmas Mark..