Date of Award
Thesis - Open Access
MS Human Genetics
Human Genetics Graduate Program
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.
Ahern, Colleen and Brokamp, Elly, "The Utility of Genomic Variant Databases in Genetic Counseling" (2016). Human Genetics Theses. 15.