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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' …
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 …