Where were we?

Pre Christmas it was asked what direction the blog should take? Political, more controversial, go deeper into things were three of the thoughts. Before the winter break eye testing came up….Ali Seall puts the following up for discussion.

The majority of Glen breeders are having their Glens DNA tested for GPRA-crd3, or they are using Hereditary Clear breeding stock.  BUT WHAT ABOUT EYE TESTING?  The Kennel Club Assured Breeder Scheme’s  Recommendation for member breeders is Annual Eye Testing.  GOITA’s Code of Ethics states, “It is recommended that all dogs should still be eye-tested periodically as a safeguard against further eye conditions.”  Professor Peter Bedford, Veterinary Ophthalmologist, writes for GOITA’s Health page, “As a breed you have already developed the discipline of eye examination and you should continue, to be certain that another problem does not become entrenched within the breed …… Eye examination is essential to ensure that our delightful breed remains free from other potential ocular [eye] disease.”

There has never really been any serious uptake of regular eye testing, other than from some breeders and some “show” people.  Looking at the figures now, it would appear that even “established” breeders have all but given up on eye testing their breeding stock.

ABS BREEDERS: Five of the six ABS breeders/breeding partnerships have produced 6 litters from bitches in their ownership in 2011 and 2012 i.e. since the DNA test for crd3 was introduced, but only one of the six bitches had an up-to-date eye certificate when she whelped i.e. within the 12 months prior to whelping.  Only one stud dog used over this time is owned by an ABS breeder; he sired 4 litters and his eye test certificate was up-to-date for just the first 2 litters.

BITCHES: Seventeen bitches have produced 18 litters during this time, and only three had up-to-date eye certificates.  These three bitches are all owned by first-time Glen breeders.  Seven bitches have never been eye tested.

DOGS: Nine dogs sired the 18 litters – one dog (x 4 litters); one dog (x 3 litters); two dogs (x 2 litters); and five dogs (x 1 litter).  Two stud dogs are resident in Ireland and so the testing status is unknown.  Two stud dogs have never been eye tested.  Four stud dogs had out-of-date eye test certificates.  The remaining stud dog is mentioned under ABS BREEDERS.

A number of Glens were eye tested and DNA tested at a Glen event in July 2010 – these dogs are not included in the following figures. The number of eye test results published in the Qtr 4 (Winter) 2010 to the Qtr 3 (Autumn) 2012 BRS (incl.) is for just 10 Glens.  There were 3 dog results, one of whom tested Affected, and 7 bitch results, one of whom was tested under the ECVO Scheme.  None of the 3 dogs have sired a litter over this time.  Three of the 7 bitches have whelped a litter during this time; they are the 3 bitches owned by first time breeders, and their certificates were “in date” at the time of whelping.

Both GOITA and Professor Bedford have recommended that we, as a breed, continue to eye test to screen for other eye problems.  I wonder if the poor uptake of eye testing is because people think that the Glen can’t possibly have any other form of eye disease …?  Unfortunately, there IS documented evidence that some Glens have developed other forms of hereditary and congenital eye disease.  The numbers are small, but there are conditions that are known to be hereditary, which suggests that there will probably be more cases.

Perhaps now is the time to review our eye testing recommendations?  It is breeders who proposed that eye testing should be done “periodically”.  But what does this mean …?  Should we not define the recommended frequency of eye testing for both breeders and “everyone else”?  It is disappointing to note that not one “established” breeder has had an eye test result recorded in the BRS since the DNA Screening Scheme for crd3 was established in October 2010 … and some breeding stock has never been eye tested.  The EFG still organises an annual event with eye testing by Professor Bedford, although it is noticeable that the numbers of Glens being tested has tailed right off.  GOITA has not organised eye testing since December 2009.

Perhaps we should just abandon eye testing?  Should we agree to remove the statements recommending periodic /regular eye testing from the breed club websites, and ask the KC to take off the ABS Recommendation for breeder members to do Annual Eye Testing?  Breeders, and especially those in positions of influence i.e. breed club officers and committee members should surely “lead by example” …?  If we are not eye testing our breeding stock, then why should we expect anyone else to bother …?

If we DO feel that we should continue eye testing our Glens, then perhaps we need to be a little more specific with our guidelines for breeders and for the rest of the Glen-owning community?  The breed club suggestions for eye tests to be done “periodically” and “regularly” are somewhat vague!   Any guidelines agreed should be realistic and achievable, and it is hoped that breeders would lead by example and follow any guidelines.

As a starting point for discussion, what about a recommendation for ALL Glens (including breeding stock) to be tested after the age of 10 years old, which would ensure that any potential late onset disease is also picked up?  For breeders, would it be reasonable to also recommend that any stud dog or brood bitch has an up-to-date eye certificate at the time of mating?  Hopefully, the EFG will continue annual eye testing and GOITA will reinstate annual eye testing – and breeders and breed club members will support these sessions.

A busy couple of weeks.

Normally the period after Christmas and early January is rather short of news but this year it’s been busy so the slightly new direction taken has obviously met with approval. Nevertheless though it’s time for the Winter Break and to gird loins for a (hopefully) equally as busy Spring and onwards. Let’s make it a date for February 18th to hit the EFG blog icon on your favourites list once again.

Before we all airkiss goodbye for a few weeks there are just a couple of things: Crufts online entries close on January 14th and this timely reminder, particularly after the post of two days ago.

If your Glen of Imaal Terrier has been DNA tested for GPRA-crd3, please can you check that the result is listed on the Kennel Club website: There are links to lists of all the Clear, Carrier and Affected Glens.

If your Glen’s results do not appear on the list, please send a COPY of the DNA result certificate (from Optigen or Bochum, both now send results direct to the KC but it could have been missed) to the Kennel Club to:

Health & Breeder Services Department, The Kennel Club, Clarges Street, Piccadilly, London, W1J 8AB

If you also want your Glen’s registration document updated, please send the original registration document (along with the copy of the test result certificate) and you will be issued with a new one, with the DNA status included.

Should they be used?

Everybody in Glen of Imaal Terriers should be aware that they have PRA and that a DNA test has been developed but what to do with the results? What do you do if your beloved animal is found to be a carrier, should it be removed from the gene pool totally or, if good enough, bred from? It can be a difficult decision that might need some thought and advice from others.

Keeping things up to date

Here are the worldwide and UK numbers of Glen of Imaal Terrier that have been tested for GPRA-crd3 since the DNA test became available in June 2010.

OptiGen (America), who mainly receives samples from the US, UK and Ireland, has tested a total of 277 Glens (worldwide) – Clear: 132 (48%); Carrier: 119 (43%); Affected: 26 (9%).  Of these 277 Glens, 57 are from the UK – Clear: 28 (49%); Carrier: 26 (46%); Affected: 3 (5%).

Bochum (Germany), who mainly receives samples from mainland Europe and the UK, has tested a total of 265 Glens (worldwide) – Clear: 154 (58%); Carrier: 93 (35%); Affected: 18 (7%).  Of these 265 Glens, 21 are from the UK – Clear: 14 (67%); Carrier: 5 (24%); Affected: 2 (9%).

 Worldwide (figures from both OptiGen and Bochum) demonstrate – Clear: 53%; Carrier: 39%; Affected 8%.  OptiGen and Bochum have a total of 78 UK results, but 3 Glens (Clear x 1, Carrier x 1 and Affected x 1) have been tested at both labs, effectively making it 75 UK Glens DNA tested for GPRA-crd3.  The distribution of Clear, Carrier and Affected are as follows: Clear: 41 (55%); Carrier: 30 (40%); Affected: 4 (5%).

Since October 2010, when the Glen of Imaal Terrier DNA Testing Scheme was established by the Kennel Club, the results of all UK Glens have been sent by the testing laboratory (OptiGen or Bochum) to the Kennel Club.  The results of 58 of the 75 tested Glens have now been published on the Kennel Club website: www.thekennelclub/item/3384 (updated 1st August 2011) – Clear (35); Carrier (22); Affected (1).

The results of another 9 Glens – Clear (4); Carrier (5) – have been published on either the GOITA website (www.goita.co.uk – Glen Health: DNA TEST Results UK) or the EFG Blog (www.e-f-g.co.uk – Blog: Categories: PRA DNA news).  A further 8 results – Clear (2); Carrier (3); Affected (3) – have not been published at all.  All these Glens would have been tested between June/Jul and Oct/Nov 2010).

If you have had your Glen DNA tested for GPRA-crd3 and the results do not appear on the Kennel Club website – see above for link – then this is what to do!  Send a COPY of your Glen’s DNA test certificate to: Health & Breeder Services Department, The Kennel Club, 1 – 5 Clarges Street, Piccadilly, London, W1J 8AB.  (There is no charge for this service).

 

Another question in the DNA PRA file

If you have a Glen of Imaal Terrier that by the diagnosis of parentage is PRA affected (i.e. the offspring of two affecteds) is there any need to have them tested and, even if not diagnosed themselves, will they be default be able to avail themselves of the Optigen free test? This question was sent to Optigen and this is their reply:-

Thank you for contacting OptiGen with this good question. Although our research/free PRA testing program is almost always reserved for dogs that have been diagnosed as having definitive clinical symptoms of PRA, I think we will want to make an exception in the case of your dog. The reason for this is that the variation of the crd3 disease is of basic research interest and it is possible that we will want to have a good collection of GITs with Affected genotypes and good clinical records available for future studies. If you are planning to have your dog examined regularly (e.g. annually) and would be able to send these clinical updates to OptiGen then we would like to archive the sample from your dog for possible future research. We would be happy to receive any eye exam updates & pedigrees from dogs that have been genotyped as crd3-affected–or obligate affecteds (i.e. offspring of 2 affected parents)—even if a blood sample is not available for future studies

For the US readers and contributers

Dr. Gregory Acland, whose research led to the discovery of the crd3 mutation at Cornell University and UPenn, will be at the New England Glen Gathering on Saturday September 18th in Barre, MA.  He will be performing eye exams and giving a research update.  Optigen will also be there to take samples for the DNA mutation test as part of a 20/20 clinic. 

Contact Martha Parry (mfparry@sbcglobal.net) or Ara Lynn (603-878-3552) for more information.

Normally Sunday is a day of rest BUT..

Further to all the questions that have arisen since the publishment of Optigen findings……

I have sent a communication to Prof Epplen (Bochum University) concerning things but will get no response, as is it weekend, until Monday.

Numerous questions have now arisen as to the way forward? We are in contact with Optigen and they are aware of the July 17th event. As Peter Bedford is attending we will obviously obtain his help in either arranging for cheek samples etc & also it can be arranged for the local vet to take small blood samples if Optigen wish this. Nothing can be decided though until we hear back from them. 

At this stage we believe we have to take  stock of the whole situation, and when in full receipt of the known facts, then make the decision on how to proceed. An obvious thing would be group samples to achieve minimum costs and again this has been put to Optigen.

Exciting as all this is we have to take a deep breath and make sure we proceed correctly as having waited this long rushing into things may only achieve even more confusion. This has already been seen by people mixing up what Greg Acland and his team have actually found. Glen of Imaal Terriers have NOT had a PRA genetic marker found; they now have a PRA gene mutation test available.

Jean Rogers