48 Breed Notes – Nov PHPT 2023

Further to the Kennel Club’s announcement in May this year where they stated that the regulation that all imported Keeshonds, or overseas dogs being imported into the UK breeding programme, must be DNA tested for primary hyperparathyroidism (PHPT) before registration of progeny, has been placed on-hold. Their reasoning behind this is that there is no peer-reviewed scientific literature providing the details of the mutation tested for, or details of the association between the mutation and the phenotype, and so the validity of the DNA test with clinical disease is not fully understood. Lack of this crucial information does not align with The Kennel Club’s updated DNA test auditing system.
As such, the test will also be removed as a requirement from Assured Breeders of Keeshonds in line with the new schedule update (expected Summer 2023), and the import restriction will be lifted with immediate effect.

The Kennel club have now issued the following:
As part of a revised auditing of accepted laboratories by The Kennel Club, we need to make you aware that, despite repeated attempts of contact by The Kennel Club over the last year, the laboratory, University of Cornell, that provides PHPT for your breed, has failed to reply within specified deadlines. Due to the lack of response, and any evidence to prove that it meets all of the criteria as set out below, unfortunately we will be unable to continue recording results for PHPT.
The criteria for accreditation was provided to the labs as follows:
1.Laboratory is required to provide a certificate for current and valid specific ISO accreditation for the competence of testing and calibration, or a separately agreed equivalent of quality assurance certification issued by an independent monitoring body.
Laboratories that are hosted by universities are exempt from the ISO requirement as it is acknowledged that these laboratories typically operate on low volumes and so obtaining certification may be cost-prohibitive. It is also noted that these laboratories are most likely to offer testing for newly discovered genetic variants and it is assumed that the quality assurances are carried out by the hosting university. However, should a laboratory cease the collaboration with a university, the ISO requirement will be re-applied.
2. Laboratory is required to be a participant (or leadership sponsor) in the Harmonisation of Genetic Testing for Dogs project led by the International Partnership for Dogs.
Laboratory is required to provide a full list of offered tests, together with the details of the mutation tested for, to ensure The Kennel Club is recording results for the intended mutation tested for.
This is to minimise the risk that the results recorded under the same label by different laboratories refer to different genetic variants, which could have severe consequences should hereditary status be assigned based on the results held in The Kennel Club’s database. Where a laboratory offers testing for a currently unpublished variant, we will not ask for the details of the mutation, other than marking it is as unpublished.

This measure will come into effect from 1 Jan 2024, and PHPT will cease to be listed on The Kennel Club’s Breed A-Z page/ABS as a health test for your breed. Please note that historic results will remain on previously tested dog records, and we will continue to record the hereditary status where applicable until the previously announced limitation on the number of generations comes into effect. https://www.thekennelclub.org.uk/media-centre/2019/september/kennel-club-limits-hereditary-clear-status-to-support-eradication-of-health-conditions/
We appreciate that this will be of concern to breeds that have been using this test as part of their breeding practices. As this test is only offered by one laboratory, we are in a difficult situation and, at this stage, we do not have any information regarding the quality accreditation or quality processes at Cornell. Further, we need to be confident that we are encouraging breeds to use pertinent and accurate tests. Our current processes for recognition of a DNA test require that the test is based on a mutation published in peer-reviewed literature, so that the evidence for its relevance can be evaluated and validated across different organisations across the world. Although PHPT has been available for years the details of the mutation tested for have never been disclosed to any external group and so there is no way of evaluating its relevance or validity.
If the situation changes with the laboratory and/or DNA test, The Kennel Club will be happy to review the situation.

As I have said previously, we need a bona fide DNA test, so that all breeding Keesies can be tested and then on subsequent 2nd generations (grandparents, then grandchildren) We must hope that the team at the Kennel Club Canine Genetic Centre at Cambridge who are doing the research on our behalf for a DNA test for PHPT, come up with a robust, validated test in the near future.

Anji Marfleet