Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 3 of 3
Full-Text Articles in Medical Genetics
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 …
Exploring Parental Attitudes On Autism Genetic Testing After Receiving Non-Pathogenic Results, Christina Szi
Exploring Parental Attitudes On Autism Genetic Testing After Receiving Non-Pathogenic Results, Christina Szi
Human Genetics Theses
Whole exome sequencing (WES) is quickly moving toward becoming a first-tier test for autism spectrum disorder (ASD); however, the diagnostic yield of these tests can be quite low. Many parents will not receive a molecular diagnosis to explain the underlying cause of their child’s autism, so it is important to understand how these parents view genetic testing: both regarding satisfaction with genetic testing and if such results cause significant emotional distress. We surveyed 520 parents who enrolled their child with ASD in SPARK Research Match and received a null genetic finding through WES. We found that, despite not receiving a …
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 …