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Full-Text Articles in Medical Sciences
North American Genetic Counselors' Approach To Collecting And Using Ancestry In Clinical Practice, Alexandra Hubbel, Elizabeth Hogan, Anne Matthews, Aaron Goldenberg
North American Genetic Counselors' Approach To Collecting And Using Ancestry In Clinical Practice, Alexandra Hubbel, Elizabeth Hogan, Anne Matthews, Aaron Goldenberg
Student Scholarship
Current guidelines from the National Society of Genetic Counselors (NSGC) recommend that patients' ancestry be obtained when taking a family history. However, no study has explored how consistently genetic counselors obtain or utilize this information. The goals of this study included assessing how genetic counselors collect their patients' ancestry, what factors influence this decision, and how they view the utility of this information. Genetic counselors working in a direct patient care setting in the US or Canada were recruited to participate in an anonymous survey via an NSGC email blast. Most participants (n = 115) obtain information about their patients' …
Script Concordance Testing In Genetic Counseling Training: A Pilot Study, Yakira Begun, Lila Rae Stange
Script Concordance Testing In Genetic Counseling Training: A Pilot Study, Yakira Begun, Lila Rae Stange
Human Genetics Theses
Clinical decision-making has been successfully measured by script concordance testing in various healthcare training programs; it has never been used in genetic counseling education. The aim of this pilot study was to assess script concordance testing in the field of genetic counseling as an objective measure of clinical reasoning in trainees. The script concordance test was administered to 22 second year genetic counseling students in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. 12 genetic counselors served on a panel to provide expert judgment responses, and a scoring grid was developed using the Aggregate Scores …
The Role Of High Throughput Functional Evidence In Reducing-Population Specific Differences In The Quality Of Variant Interpretation, Makenzie Fong, Taylor Silkey
The Role Of High Throughput Functional Evidence In Reducing-Population Specific Differences In The Quality Of Variant Interpretation, Makenzie Fong, Taylor Silkey
Human Genetics Theses
Variants of uncertain significance (VUSs) in cancer pre-disposition genes are more frequent in non-White and/or Hispanic populations than non-Hispanic White (NHW), creating more ambiguity in cancer risk/management for these populations. High throughput functional evidence (HTFE) serves as a powerful classification tool for missense variants within the RING/BRCT domains of BRCA1. We sought to determine if HTFE provides preferential benefit in underrepresented racial and ethnic groups. Our cohort consisted of individuals who had BRCA1 testing and self-reported ancestry as Asian, Black, Hispanic, Middle Eastern, or NHW. For individuals with pathogenic, likely pathogenic, or VUS variants in the RING/BRCT domains, we evaluated …