Condition reference
Hereditary diseaseHereditary disease genetic testing and counselling
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WSAVA guideline
The Role of Health-Conscious Breeding and Genetic Testing
The HDC position paper sets the quality bar for clinical genetic testing: individual tests must be validated for the specific disease AND the specific breed, because "mutations may segregate in multiple breeds but not necessarily be associated with disease in all of them." Tests should be run by a proficient, specialised laboratory using proper controls and procedures. The rise of multiplex panels reporting >100 disease-associated mutations makes filtering out breed-irrelevant results "essential." Genetic counselling must be tailored to the individual animal and circumstance — mode of inheritance, penetrance, breed, and mutation frequency within the breed — so misinterpreted results never trigger "improper decisions regarding breeding, treatment or euthanasia." The Committee sponsors the Canine and Feline Hereditary Disease (DNA) Testing Laboratories database (now PennGen-linked) and points to the IPFD Harmonization of Genetic Testing initiative for laboratory quality assurance.
WSAVA Hereditary Disease Committee (HDC) Position Paper "The Role of Health-Conscious Breeding and Genetic Testing in Reducing the Impact of Hereditary Disease" (no year stated; wsava.org upload 2020) + WSAVA "Hereditary Disease" web page
Key findings
- Dual validation (disease AND breed): mutations "may segregate in multiple breeds but not necessarily be associated with disease in all of them" — "a DNA test for one breed may not be appropriate for others" (p.1).
- Laboratory quality: testing by a "proficient and specialized laboratory that utilizes proper controls and procedures" (p.1–2).
- Multiplex panel filtering: panels reporting >100 identified disease-associated mutations are replacing single-gene tests (practical, cheaper per sample); "the need to filter out results with no clinical implications for the individual's breed is essential" (p.2).
- Individualised counselling variables: mode of inheritance, penetrance, breed, mutation frequency within the breed — interpretation "must be appropriate for the test, the individual, and the breed" (p.2).
- Stakes of misinterpretation: improper decisions on breeding, treatment or euthanasia are the explicit harm of test misreading (p.2) — indiscriminate removal of carriers from the breeding pool is the corollary.
- WSAVA DNA-lab database: HDC-sponsored Canine and Feline Hereditary Disease (DNA) Testing Laboratories database (printed URL research.vet.upenn.edu/WSAVA-LabSearch), searchable by breed/disease/laboratory, every mutation linked to its peer-reviewed discovery citation; the current HDC web page points to the successor PennGen page [verify current URL].
- IPFD Harmonization of Genetic Testing (dogwellnet.com/ctp): documents laboratory quality assurance and test applicability by dog breed (p.2).
- HDC web-page resources: PennGen, AKC Breed Club Directory, AKC Canine Health Foundation, OFA, Dog Breed Health, Winn Feline Foundation.
Recommendations
Use only tests validated for the specific disease AND breed
"It also calls for…" — Expert consensus (HDC)
Testing by a proficient, specialised laboratory with proper controls
"calls for" — Expert consensus (HDC)
With multiplex panels (>100 mutations), filter out breed-irrelevant results
filtering is "essential" — Expert consensus (HDC)
Tailor counselling to the individual (inheritance, penetrance, breed, mutation frequency)
"must be appropriate for the test, the individual, and the breed"
Guard against improper breeding, treatment or euthanasia decisions (over-removal from the breeding pool included)
Explicit rationale of counselling requirement
Veterinarians should educate themselves on availability and proper use of genetic tests
"calls on veterinarians" — Expert consensus (HDC)
Select tests/labs via the WSAVA DNA Testing Laboratories database (peer-reviewed citations)
Committee-sponsored resource
Check lab quality assurance and breed applicability via IPFD Harmonization (dogwellnet.com/ctp)
Committee-endorsed development
Related drugs in this reference (0)
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From summaries/08-hereditary-disease.md vs the full position paper + HDC web page. Genetic diversity/inbreeding is not explicitly discussed in either source; the nearest content is the counselling requirement warning against improper breeding decisions — the diversity framing here is that implication, flagged not quoted. No year/journal on the position paper [verify]; printed WSAVA-LabSearch URL vs current PennGen link [verify]. Breeding positions: T18.