Pet genomics medicine runs wild

Moses, Lisa; Niemi, Steve; Karlsson, Elinor K.

doi:10.1038/d41586-018-05771-0

Cited by 25 publications

(27 citation statements)

References 9 publications

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“…Targeted individual companion animal genome information is becoming more readily available, cost effective, and tentatively linked to the actionable phenotypes via direct-to-consumer DNA testing. Thus correct interpretation of DNA variants is of the utmost importance for communicating findings to clinicians practicing companion animal genomic medicine [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism

et al. 2020

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The domestic cat (Felis catus) numbers over 94 million in the USA alone, occupies households as a companion animal, and, like humans, suffers from cancer and common and rare diseases. However, genome-wide sequence variant information is limited for this species. To empower trait analyses, a new cat genome reference assembly was developed from PacBio long sequence reads that significantly improve sequence representation and assembly contiguity. The whole genome sequences of 54 domestic cats were aligned to the reference to identify single nucleotide variants (SNVs) and structural variants (SVs). Across all cats, 16 SNVs predicted to have deleterious impacts and in a singleton state were identified as high priority candidates for causative mutations. One candidate was a stop gain in the tumor suppressor FBXW7. The SNV is found in cats segregating for feline mediastinal lymphoma and is a candidate for inherited cancer susceptibility. SV analysis revealed a complex deletion coupled with a nearby potential duplication event that was shared privately across three unrelated cats with dwarfism and is found within a known dwarfism associated region on cat chromosome B1. This SV interrupted UDP-glucose 6-dehydrogenase (UGDH), a gene involved in the biosynthesis of glycosaminoglycans. Importantly, UGDH has not yet been associated with human dwarfism and should be screened in undiagnosed patients. The new high-quality cat genome reference and the compilation of sequence variation demonstrate the importance of these resources when searching for disease causative alleles in the domestic cat and for identification of feline biomedical models.

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Section: Introductionmentioning

confidence: 99%

A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism

et al. 2020

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“…In veterinary medicine, costs associated with DNA testing are borne primarily by the animal owner, and data are likely to be held within privately-owned corporate databases. In comparison with human medicine, progress in PGx-driven prescribing in veterinary medicine has been slow to date, although, from a recent, critical and bioethically focused opinion piece published in Nature, pet genetic testing has become a “booming industry” and at least one US corporate veterinary hospital chain recommends genetic testing in order to “enable proactive, individualized healthcare” (106).…”

Section: Translating Pgx To the Clinicmentioning

confidence: 99%

“…This site provides a catalog of inherited traits in a broad range of animal species and includes pharmacogenes, however most of the pharmacogene findings reported are based on small-group studies. Genome-wide association studies are being used to identify genetic loci associated with disease in veterinary species, but as yet these have been limited in comparison with human studies, and also these have not focussed on PGx differences (106). This means very little statistically robust PGx data is currently available to veterinary clinicians, and commercially available PGx tests appear to be currently limited to two tests in dogs: one form of the ABCB-1 (listed as MDR-1) mutation, and one form of malignant hyperthermia (RYR-1) mutation.…”

Section: Translating Pgx To the Clinicmentioning

confidence: 99%

“…For quality assurance, the World Health Organization advocates regulatory oversight of genetic testing, and provides a benchmark regarding what such quality assurance should look like, from the point where the clinician decides whether a test is warranted, to the validity of the test, the accreditation of the laboratory and the interpretation of the results combined with counseling of the client/patient (110). Although this is a broader discussion than PGx, as pet genetic databases expand, there will need to be ongoing discourse regarding the ethics in and around the data generated: where and how long the data is to be stored, who is to be responsible for data sharing, how will data on individual animals affect insurance and the responsibility and/or potential liability of dog breeders toward owners (106).…”

Section: Translating Pgx To the Clinicmentioning

confidence: 99%

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Translating Pharmacogenetics and Pharmacogenomics to the Clinic: Progress in Human and Veterinary Medicine

Campion

Dowell

2019

Front. Vet. Sci.

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As targeted personalized therapy becomes more widely used in human medicine, clients will expect the veterinary clinician to be able to implement an evidence-based strategy regarding both the prescribing of medicines and also recognition of the potential for adverse drug reactions (ADR) for their pet, at breed and individual level. This review aims to provide an overview of current developments and challenges in pharmacogenetics in medicine for a veterinary audience and to map these to developments in veterinary pharmacogenetics. Pharmacogenetics has been in development over the past 100 years but has been revolutionized following the publication of the human, and then veterinary species genomes. Genetic biomarkers called pharmacogenes have been identified as specific genetic loci on chromosomes which are associated with either positive or adverse drug responses. Pharmacogene variation may be classified according to the associated drug response, such as a change in (1) the pharmacokinetics; (2) the pharmacodynamics; (3) genes in the downstream pathway of the drug or (4) the effect of “off-target” genes resulting in a response that is unrelated to the intended target. There are many barriers to translation of pharmacogenetic information to the clinic, however, in human medicine, international initiatives are promising real change in the delivery of personalized medicine by 2025. We argue that for effective translation into the veterinary clinic, clinicians, international experts, and stakeholders must collaborate to ensure quality assurance and genetic test validation so that animals may also benefit from this genomics revolution.

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“…As more breeders use DNA testing to inform breeding decisions, concerns have been voiced regarding how these discoveries become clinical tests available to the public (Moses et al 2018 ). The previous lack of oversight can now start to be addressed through the use of the published standards and guidelines (Shaffer et al 2018 ).…”

Section: Introductionmentioning

confidence: 99%

Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines

Shaffer¹,

Geretschlaeger²,

Ramirez³

et al. 2019

Hum Genet

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There is currently no oversight for canine clinical genetic testing laboratories. We published an initial set of standards and guidelines with the goal of providing a basis for which canine testing laboratories could evaluate their quality assurance programs. To further those standards and guidelines, we have developed a checklist that can be used as a self-evaluation to identify gaps in their programs for continual quality improvement over time. Because there is currently no organization willing to oversee an external proficiency program, the checklist provides the first step toward an internal, self-assessment that can be used periodically to monitor improvements. In addition, we attempt to address concerns from the canine community regarding rare or private mutations, genetic screening using array-based technologies, non-peer reviewed tests that are being offered, and the clinical validity of certain mutations in particular breeds. Through coordination, conversation and hard work, the canine genetic testing community can strive to organize to improve testing and to provide more transparency to consumers and better outcomes for dogs. Electronic supplementary material The online version of this article (10.1007/s00439-019-02013-9) contains supplementary material, which is available to authorized users.

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Pet genomics medicine runs wild

Cited by 25 publications

References 9 publications

A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism

A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism

Translating Pharmacogenetics and Pharmacogenomics to the Clinic: Progress in Human and Veterinary Medicine

Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines

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