Molecular testing: improving patient care through partnering with laboratory genetic counselors.

作者: Cheryl Scacheri , Joy B Redman , Lisa Pike-Buchanan , Kelle Steenblock

DOI: 10.1097/GIM.0B013E31817283A5

关键词:

摘要: The utility of molecular diagnostics in clinical practice has been steadily increasing and is expected to continue do so as the applications genomic medicine increase. goal this article was describe roles responsibilities genetic counselors who work customer service area laboratories. In role, provide recommendations clinicians on issues that are specific DNA-based testing. This will address some specifically relevant disease tests. Many diagnostic laboratories employ counselors, have extensive training how communicate information, information preanalytic, analytic, postanalytic stages To maximize quality service, it important establish an understanding what can be both practitioner laboratory counselor. Although complications cannot anticipated, discussing case with beforehand may avert certain problems. discusses real cases from illustrate arise due technical difficulties inherent limitations summary describes practical ways which personnel together either avoid or, when unavoidable, better manage problems delays. working discussed.

参考文章(7)
J. den Dunnen, S. Antonarakis, Nomenclature for the description of human sequence variations Human Genetics. ,vol. 109, pp. 121- 124 ,(2001) , 10.1007/S004390100505
Anne Maddalena, Carolyn Sue Richards, Matthew J McGinniss, Arthur Brothman, Robert J Desnick, Robert E Grier, Betsy Hirsch, Peter Jacky, Geraldine A McDowell, Bradley Popovich, Michael Watson, Daynna J Wolff, None, Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics Genetics in Medicine. ,vol. 3, pp. 200- 205 ,(2001) , 10.1097/00125817-200105000-00010
Pierangelo Bonini, Mario Plebani, Ferruccio Ceriotti, Francesca Rubboli, Errors in Laboratory Medicine Clinical Chemistry. ,vol. 48, pp. 691- 698 ,(2002) , 10.1093/CLINCHEM/48.5.691
Margaret M. McGovern, Marta Benach, Randi Zinberg, Interaction of genetic counselors with molecular genetic testing laboratories: implications for non-geneticist health care providers. American Journal of Medical Genetics Part A. ,vol. 119, pp. 297- 301 ,(2003) , 10.1002/AJMG.A.20196