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3.7.4 Genetic Health Registries

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Many owners and veterinarians wonder if a particular medical issue observed in a companion animal is genetically controlled and related to its breed, sex, growth rate and size, age, or diet. Health registries can help answer those questions. In their simplest form, genetic health registries are repositories of the results obtained from either phenotypic or genetic health screening tests (see 3.4 Predicting and Eliminating Disease Traits). By recording and compiling the information in an accessible formant, owners, breeders, and veterinary practitioners can use that to inform decisions. Genetic health registries provide an important resource for the veterinary community by cataloging diseases of a population of animals (Table 3.7.1), permitting the development of informed treatment plans, and illuminating trends of emerging diseases.

Table 3.7.1 The top 11 breeds with the highest prevalence of elbow dysplasia by breed for those breeds with at least 50 evaluations from 1974 thru 2018

Source: Data from the OFA Canine Health Information Center health registry (www.ofa.org).

Breed Rank Number of evaluations % Normal % Overall dysplastic % Grade 1 dysplasia % Grade 2 dysplasia % Grade 3 dysplasia
Chow chow 1 1248 50 49 25 17 6
Pug 2 216 59 41 26 13 2
Rottweiler 3 20 177 61 39 30 8 1
Bulldog 4 497 62 37 25 10 1
Fila Brasileiro 5 220 68 32 19 10 3
Boerboel 6 246 70 30 17 8 5
Black Russian terrier 7 767 72 27 19 7 1
Bernese mountain dog 8 17 869 73 27 18 7 3
Otterhound 9 137 73 27 22 4 1
Chinese shar‐pei 10 852 74 25 14 9 3
Newfoundland 11 8394 76 24 15 5 3

A primary objective of a registry is to provide a resource for breeders seeking health information on potential sires or dams. Another objective is to enable prospective owners to research the health of a breed in general or the parents and their relatives of a particular companion pet being considered. For example, Table 3.7.2 presents the health information of a dog of interest. In this example, for each dog, its registration number, birth date, and sex are listed followed by any health tests recorded. This particular dog has passed all its health clearances, as have a majority of its relatives. Health registries have the greatest value with broad participation; vast amounts of data provide the necessary power to predict outcomes and analyze trends.

Table 3.7.2 Health information on a dog of interest along with that of its sire, dam, and half siblings

Source: Data from www.ofa.org.

Dog of interest Registration Birthdate Sex Relation Hipsa Elbowb Eyesc Thyroidd
Larentia di Villa Roma DN09589103 Dec 16 2004 F Self BT‐4753G27 BT‐EL2046F27 BT‐EYE316 BT‐TH315/27
Sire/Dam
Neartic de la Grande Lande DL75874001 Mar 13 1997 M Sire BT‐3264G32 BT‐EL754M32 BT‐2233
High Clearings Zohra DL87843301 Apr 5 2000 F Dam BT‐3953G36 BT‐EL1321F36 BT‐2881
Full sibling
Luna di Villa Roma DN09589105 Dec 16 2004 F Full Sib BT‐4697G24 BT‐EL1998F24 BT‐3343 BT‐TH299/24
Longsword di Villa Roma DN09589104 Dec 16 2004 F Full Sib BT‐5090E48 BT‐EL2362F48 BT‐3775
Half sibling (sire)
Touchstone's Jaiden D'Shea DL76335705 Oct 15 1998 F Half(Sire) BT‐3650E37 BT‐EL1059F37 BT‐2591
Touchstone's Jericho Dune DL76335702 Oct 15 1998 M Half(Sire) BT‐3659G37 BT‐EL1068M37 BT‐2590
Touchstone’s Crown Jewel DL76335701 Oct 15 1998 F Half(Sire) BT‐3806E45 BT‐EL1199F45 BSD‐1372
Half sibling (dam)
Hufflepuff di Villa Roma DN05032106 Oct 7 2003 F Half(Dam) BT‐4460E24 BT‐EL1781F24 BT‐EYE445 BT‐TH485/73
House Elf di Villa Roma DN05032105 Oct 7 2003 M Half(Dam) BT‐5215G71 BT‐EL2476M71 BT‐3162 BT‐TH488/73
Humberto di Villa Roma DN05032104 Oct 7 2003 M Half(Dam) BT‐4486E25 BT‐EL1805M25 BT‐3046
Hocus Pocus di Villa Roma DN05032103 Oct 7 2003 F Half(Dam) BT‐4524G28 BT‐EL1833F28 BT‐3544
Hagrid di Villa Roma DN05032101 Oct 7 2003 M Half(Dam) BT‐4916F49 BT‐EL2190M49 BT‐3163
Hex di Villa Roma DN05032107 Oct 7 2003 F Half(Dam) BT‐3047
Hermione di Villa Roma DN05032102 Oct 7 2003 F Half(Dam) BT‐4487G25 BT‐3044
Sidekicks Masters di Villa Roma DN15480007 Aug 16 2006 M Half(Dam) BT‐5032G24 BT‐EL2301M24 BT‐EYE73 BT‐TH362/13
Sidekicks Mia di Villa Roma DN15480003 Aug 16 2006 F Half(Dam) BT‐5103E29 BT‐EL2375F29 BT‐EYE101 BT‐TH444/29
Sidekicks Memory di Villa Roma DN15480004 Aug 16 2006 M Half(Dam) BT‐5062G26 BT‐EL2332M26 BT‐4096 BT‐TH431/26
Sidekick's Morgan di Villa Roma DN15480002 Aug 16 2006 F Half(Dam) BT‐5056G26 BT‐EL2327F26
Sidekicks Marquise Villa Roma DN15480005 Aug 16 2006 M Half(Dam) BT‐5093G28 BT‐EL2365M28
Sidekicks Marinos Villa Roma 1 096 588 Aug 16 2006 M Half(Dam) BT‐5122G29 BT‐EL2393M29
Sidekicks Newsflash DN21567304 May 5 2008 F Half(Dam) BT‐5437E30 BT‐EL2673F30 BT‐3959 BT‐TH600/39
Sidekicks Never Say Never DN21567301 May 5 2008 F Half(Dam) BT‐5527G37 BT‐EL2762F37 BT‐3983

a A hip result is a two‐letter breed code followed by the evaluation number, a subjective code for the hip conformation (E = excellent; G = good; F = fair), and the age of the dog in months when the hips were evaluated.

b An elbow result is a two‐letter breed code followed by EL that indicates the number is associated with elbows, the evaluation number, an abbreviation of the sex of the dog (M = male; F = female), and the age of the dog in months when the elbows were evaluated.

c An eye result is a two‐letter breed code followed by either the abbreviation EYE that indicates the number is associated with eyes or just the evaluation number.

d A thyroid result is a two‐letter breed code followed by TH that indicates the number is associated with thyroid, the evaluation number, and the age of the dog in months when the thyroid was evaluated.

Dogs are the companion species with the greatest number of health screens available; these screens range from phenotypic tests such as hip conformation, eye, cardiac, or metabolic hormonal profiles to direct genetic mutation tests (see 3.11 Integrating Genotypic and Phenotypic Testing). Depending upon the registry, any and all health information may be collected and reported along with descriptive statistics such as sex, breed, age, etc. Alternatively, a select subset of screening tests that meet particular criteria may be recorded along with the descriptors. An example of the latter is the OFA Canine Health Information Center health registry, the largest repository of canine health information in the US, which covers purebred dog breeds as well as mixed‐breed dogs and some other species. The health screening data recorded and published by the OFA are limited to phenotypic results obtained through examinations and testing by professional veterinarians with the appropriate board certifications and DNA‐based results from validated genetic tests (Table 3.7.3).

Table 3.7.3 Genetic test screenings recorded in the OFA Canine Health Information Center health registry

Source: Data from www.ofa.org.

Phenotypic genetic tests Mutation tests
Hip dysplasia Adult‐onset neuropathy
Elbow dysplasia Adult paroxysmal dyskinesia
Cardiac disease Basenji progressive retinal atrophy
Congenital deafness Canine multiple system degeneration
Serum bile acid Degenerative encephalopathy
Eye disease Degenerative myelopathy
Legg–Calvé–Perthes Dilated cardiomyopathy
Patellar luxation Fanconi’s syndrome
Sebaceous adenitis Gangliosidosis
Spine Juvenile laryngeal paralysis and polyneuropathy
Shoulder osteochondrosis Neonatal cerebellar ataxia
Thyroid Neuronal ceroid lipofuscinosis
Tracheal hypoplasia Neonatal encephalopathy with seizures
Dentition Pyruvate dehydrogenase phosphate deficiency
Kidney Primary lens luxation
RCD4 progressive retinal atrophy
Spinocerebellar ataxia
Spongiform leukoencephalomyelopathy

In contrast, some individual dog breed clubs maintain their own health databases managed by dedicated club members. These breed‐specific health registries usually catalogue health conditions more typically observed within that breed as well as collecting information on a multiplicity of medical conditions. The information gathered and recorded often includes anecdotal descriptions of health issues. Although professional diagnoses are the most valuable for reliable use in decision making, sometimes aggregate anecdotal information reveals an emerging health issue.

Health screening results for cats can also be deposited with the OFA, although participation has been limited. The reduced data may be due to fewer health screens being typically employed by cat owners or that the health registration for cats is more decentralized and maintained within breed clubs. A similar breed‐specific approach is seen for equine health registries. Additionally, some registries are specific for a particular condition within a specific breed, such as the International Epilepsy Register for Belgian Shepherds. Registries targeting a single condition or those more anecdotal in nature are much less valuable to the veterinary and research community than the registries that are more comprehensive and centralized with health screenings validated by professionals.

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