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

作者: Lisa G. Shaffer , Anja Geretschlaeger , Christina J. Ramirez , Blake C. Ballif , Casey Carl

DOI: 10.1007/S00439-019-02013-9

关键词:

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

参考文章(34)
Roger D. Klein, AMP v Myriad The Supreme Court Gives a Win to Personalized Medicine The Journal of Molecular Diagnostics. ,vol. 15, pp. 731- 732 ,(2013) , 10.1016/J.JMOLDX.2013.09.002
Kathryn M. Meurs, Sunshine Lahmers, Bruce W. Keene, Stephen N. White, Mark A. Oyama, Evan Mauceli, Kerstin Lindblad-Toh, A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher Human Genetics. ,vol. 131, pp. 1319- 1325 ,(2012) , 10.1007/S00439-012-1158-2
Wayne W. Grody, Barry H. Thompson, Anthony R. Gregg, Lora H. Bean, Kristin G. Monaghan, Adele Schneider, Roger V. Lebo, ACMG position statement on prenatal/preconception expanded carrier screening Genetics in Medicine. ,vol. 15, pp. 482- 483 ,(2013) , 10.1038/GIM.2013.47
Iris Schrijver, Nazneen Aziz, Lawrence J. Jennings, Carolyn Sue Richards, Karl V. Voelkerding, Karen E. Weck, Methods-based proficiency testing in molecular genetic pathology. The Journal of Molecular Diagnostics. ,vol. 16, pp. 283- 287 ,(2014) , 10.1016/J.JMOLDX.2014.02.002
Cathryn Mellersh, DNA testing and domestic dogs Mammalian Genome. ,vol. 23, pp. 109- 123 ,(2012) , 10.1007/S00335-011-9365-Z
Michaela Drögemüller, Vidhya Jagannathan, Gaudenz Dolf, Karin Butenhoff, Suzanne Kottmann-Berger, Gerhard Wess, Tosso Leeb, A single codon insertion in the PICALM gene is not associated with subvalvular aortic stenosis in Newfoundland dogs Human Genetics. ,vol. 134, pp. 127- 129 ,(2015) , 10.1007/S00439-014-1506-5
Joshua A. Stern, Stephen N. White, Linda B. Lehmkuhl, Yamir Reina-Doreste, Jordan L. Ferguson, Nanette M. Nascone-Yoder, Kathryn M. Meurs, A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs Human Genetics. ,vol. 133, pp. 1139- 1148 ,(2014) , 10.1007/S00439-014-1454-0
Anne Maddalena, Sherri Bale, Soma Das, Wayne Grody, Sue Richards, None, Technical standards and guidelines: molecular genetic testing for ultra-rare disorders. Genetics in Medicine. ,vol. 7, pp. 571- 583 ,(2005) , 10.1097/01.GIM.0000182738.95726.CA