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Full-Text Articles in Life Sciences

Utilization And Perceived Value Of Genetic Counselors Within U.S. Hemophilia Treatment Centers, Caylynn Carls May 2021

Utilization And Perceived Value Of Genetic Counselors Within U.S. Hemophilia Treatment Centers, Caylynn Carls

Human Genetics Theses

Rapid advancement of molecular genetics has transformed the diagnosis, treatment, and management of individuals with hereditary bleeding disorders. To provide effective, up-to-date genetic counseling, navigate the complexity of these conditions, and select appropriate molecular testing, genetics expertise is required. This study assessed the provision of genetic counseling services, the involvement of genetic counselors (GCs), and the perceived value of GCs within hemophilia treatment centers (HTCs) in the United States. A survey was emailed to 396 HTC providers. 115 responses were received, representing 68 of 149 U.S. HTCs (45.6% HTC participation rate). Responses were stratified by level of GC engagement. Although …


Current Practices In Post-Mortem Cariogeentic Test-Ordering An Genetic Counseling In Cases Of Sudden Cardiac Death (Scd), Kiran Gangwani, Miranda Di Biase May 2020

Current Practices In Post-Mortem Cariogeentic Test-Ordering An Genetic Counseling In Cases Of Sudden Cardiac Death (Scd), Kiran Gangwani, Miranda Di Biase

Human Genetics Theses

This study aims to provide current insights into practice variation among genetic counselors (GC’s) and medical examiners (ME’s) with regards to post-mortem genetic testing in the context of Sudden Cardiac Death (SCD). Ninety total respondents (37 GC’s, 47 ME’s, 3 cardiologists, and 3 forensic pathologists) were surveyed, with questions addressing: who initiates testing and for what indications; what types of tests are ordered and how are they paid for; and what areas of the post-mortem genetic testing process need to be addressed in future studies for potential improvement. Significantly more GC’s ordered post-mortem genetic testing for SCDs than ME’s, with …