The Utility of Genomic Variant Databases in Genetic Counseling
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Authors
Ahern, Colleen
Brokamp, Elly
Issue Date
2016-05-01
Type
thesis_open
Language
Keywords
genetic counseling , data sharing , VUS , variant database , Other Genetics and Genomics
Alternative Title
Human Genetics Theses
Abstract
Organizations such as the American College of Medical Genetics (ACMG) and the National Society of Genetic Counselors (NSGC) are in agreement that public genomic data sharing will benefit patient care. Despite these recommendations, not all clinical laboratories share their variant data onto public databases. As the amount of genetic material being analyzed for patient care continues to increase, more variants of unknown significance (VUS) are reported as well. Genetic counselors need to properly interpret VUS results in order to aid patients in making educated health decisions. For this paper, genetic counselors were asked about genomic data sharing and how they handle VUS results for patients. While almost all genetic counselors agree that there is a need for genomic data sharing, only some took laboratories’ data sharing practices into account when deciding where to order testing. Genetic counselors do not have a standard way of processing VUS results; there is little consistency to how often genetic counselors look up variants in public databases or which databases they use.