DNA STUDY FAILS LITMUS TEST

What follows is a widely circulated request for blood samples "to find the gene mutations that cause cryptorchidism."  Neither the request nor the website information states the DNA study is directly related to dogs, although both strongly suggest it is so.  We are the first to acknowledge that without research, there would be no advances in human or veterinary medicine.  This sounded pretty good but first, the email solicitation.

Subject: Cornell study on Cryptorchidism

In the laboratories at the Baker Institute for Animal Health, Cornell University, Dr. Vicki Meyers-Wallen focuses upon inherited disorders that affect canine reproduction. Our goal is to identify genes that have a negative impact upon reproduction, with the final goal of producing practical tests to identify those carrying harmful mutations. The long term goals are to reduce, and eventually remove, such deleterious genes from purebred dog populations, thus improving the reproductive soundness of purebred dogs.

We are asking for breeders and owners to participate in our study by allowing us to collect blood samples from their dogs and related dogs.  Those interested can e-mail Dr. Meyers-Wallen at: vnm1@cornell.edu  http://bakerinstitute.vet.cornell.edu/research/meyers_wallen/meyers_wallen.html

We are studying the DNA to find the gene mutations that cause cryptorchidism (undescended testicles). Since this is the most prevalent inherited disorder of the canine reproductive system, it would be very helpful to have a test to detect carriers of these genes. Then breeders could plan matings in which no cryptorchid offspring would be produced, while allowing the offspring to receive other desirable genes that such carriers may have.

We present this puzzle because these requests are becoming frequent.  They may be perfectly legitimate and for an altruistic purpose.  My litmus test for truth has always been whether a person or organization was willing to respond to reasonable, polite questions.  Most welcome an opportunity to promote a concept or project but where there is reticence or secrecy, especially when asking for donations with no compensation of any kind, it does raise the eyebrow doesn’t it?

Not enough companion animal reproduction is taught in vet school, therefore breeders are always interested in any project that promises to advance our knowledge in that regard.  Medical studies come with a price tag and in today’s hotly competitive market, obtaining study subjects is expensive.  Life itself is a trade-off, people frequently participate in drug studies in hopes of benefit for themselves or others.  There are legal statutes that more or less require disclosure in human medicine, not so in animal medicine.  Nonetheless, we should be clearly informed of the purpose to which donated blood or DNA samples will be directed and honestly appraised of the expected benefit.  We are entitled to assurance that tissue samples or DNA will be used for the stated purpose and will not be sold, traded, or otherwise “used” without our knowledge or consent.  Information-peddling is big business.  No educated person today believes universities or labs are philanthropic institutions.

We willingly give blood to the Red Cross, knowing it will be sold to the hospital (to cover costs) which will mark it up and sell it to the patient.  That’s okay.  We know how it works and that our gift to humanity could save a life.  Giving unknown researchers your dog's blood for an undisclosed or obscure purpose is decidedly different! 

Without understanding the intended use and possible direct benefit to dogs, many of us let people we’ve never seen before, who offer no proof of their qualifications, much less of the sterility or safety of the procedure, access our dog’s jugular vein!  We’re told it’s not a big deal and it will “help” some cloudily-worded project "for" dogs.  My personal experience and that of concerned owners who have asked us to look at this is that when collectors are asked to be more explicit or to assure the blood will not be sold or used for some other purpose, they often become uncomfortable and offer excuses instead of definitive responses.   

There’s none among us who wouldn’t rejoice at the thought of finding and eliminating a gene for retained testicles, which by the way, is not the “most prevalent” inherited disorder of the canine repro system.  That misstatement is cause for wonder in itself. While there are more common repro problems, this one is indeed frustrating.  Unlike most faults which can be pegged by three months of age, a yo-yo testicle can relegate a spectacular pup to a state of limbo instead of a loving family.  Not fair, but true. 

As has been speculated by breeders who keep track of such things, the gene for cryptorchidism might also be carried by the FEMALE dog, analogous to von Willibrand’s disease (bleeder) which is carried by the female.  It is noteworthy that such a possibility was not mentioned.  In this study, only male dogs were acceptable for DNA research. 

Exploration of the website links validated Dr. Vicki Meyers-Wallen’s impressive credentials but also raised questions.  The first statement regarding the research is “We are studying animal models of inherited human disorders as a means to understand sex determination and differentiation at the molecular level.”   Second paragraph, again relating to humans, “Affected individuals do not have a Y chromosome: the karyotypes of affected individuals are the same as those of normal females.”  That could explain why blood samples from females are not necessary for that part of the research.  Therefore we would not learn whether or not female dogs carry the gene.

Third paragraph finally mentions dogs.  “A second disorder that we are investigating, which occurs in humans and dogs, is Persistent Mullerian Duct Syndrome (PMDS) in which the oviducts and uterus develop in otherwise normal males.”

Finally, the fourth and concluding paragraph, quoted in its entirety, gets to the part of the study that relates to dogs “A third disorder that we are investigating in collaboration with other investigators is cryptorchidism, which is failure of the testes to descend into the scrotum. Our objective is to find the genes responsible for this disorder in the dog. We are currently collecting DNA samples from cryptorchid males and their parents and grandparents in canine families.”

I could find nothing else that relates to dogs nor does it state if or how any dog-related results of the study would be made public.  No explanation as to why such a significant amount of blood is required as opposed to evidentiary DNA studies from a cheek swab, a single hair, or even a 3,000 year old speck of dust from a mummy’s tomb.  If you are participating in the study, perhaps you can obtain an answer to these questions in exchange for the donation of your time and your dog's blood.

TheDogPress is unable to elicit any degree of cooperation as evidenced by the following email exchanges.  We understand being busy but if this widely broadcast plea was to elicit donations of samples, then surely the windfall of being able to reach thousands of dedicated breeders all at once would have aided in the intent of the original request?  Maybe not.  You decide. 

Before we decided to promote the research, and based on a recent experience wherein a crew at Oklahoma Toy Specialties solicited blood samples but could not or would not say that the DNA or blood would not be sold or otherwise shared, we decided to contact Dr. Meyers-Wallen.

I explained that we were one of the largest subscriber-based websites in the U.S. and offered to help promote the project.  I asked whether there had been a study that proved retained testicles are hereditary and if so, would she provide that reference so that we could offer that as well.  This is common practice, no big deal.  I also inquired whether or not there would be a processing or any other charge connected with submitting a sample and what the donor-owner might receive for having participated, i.e. a certificate saying their dog does not carry the gene?

I asked what would be done with the database of information and the samples during or after the study was complete, thanked Dr. Meyers-Wallen for her anticipated response, and again stated that we hoped to support the project by informing our subscribers. 

From: Vicki Meyers-Wallen [mailto:vnm1@cornell.edu] Sent: Thursday, August 11, 2005
To: Editor Subject: Re: QUESTION re cryptorchidism study DNA sample

Dear Ms. Andrews,   

Thank you for your willingness to help. I am hesitant to post this further since I am presently experiencing a tremendous response- so much so that I am having trouble keeping up with the correspondence right now. After we evaluate how many samples we actually receive from this response, I can tell whether we actually need any more.

Thank you for your patience,

Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT    Associate Professor
Dept. of Biomedical Sciences, J.A. Baker Institute for Animal Health,
College of Veterinary Medicine, Cornell University, Ithaca, NY 14853  USA
Telephone: 607 256-5683  FAX: 607 256-5608  e-mail vnm1@cornell.edu
http://bakerinstitute.vet.cornell.edu/research/meyers_wallen/meyers_wallen.html

To which I replied:
“…  Your failure to address my questions in any form leads me to believe that this DNA sample collection may not be as altruistic as has been portrayed.  Could that be true? 

“If you have a moment to reply to all those emails from people who are "responding" then surely you have time to answer basic questions? My time is limited as well but if it is a worthy project and will actually provide some short-term tangible benefit for the dogs instead of for the promotion of some new income producer, it deserves promotion.”

 And she replied, in total:

“I am sorry that you feel that way.”

The researcher must indeed be busy.  No signature and no pretense at civility or cooperation.  We leave you to interpret this information as you will.  We're told "It never hurts to ask" but perhaps it does.

Read Captain Haggerty's response in reference to the above article;  http://www.thedogplace.com/library/DogCare/Haggerty_Genetic_Studies_0509.htm