Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


Despite the importance of patient ethnicity in clinical genetics, its usage in genetic counseling has not been characterized. This study looked at attitudes of genetic counselors (GCs) towards the role of patient self-reported ethnicity and its incorporation into their practice, specifically related to carrier screening. 475 GCs were recruited through the National Society of Genetic Counselors Listserv. Respondents answered an online survey consisting of qualitative and quantitative questions. Questions addressed how patient ethnicity is elicited and used in clinical practice. Case studies involving patients with varying ethnicities were presented for evaluation. Participants’ attitudes towards the use of ethnicity in clinical practice were evaluated before and after reviewing data showing patient self-reported ethnicity is not always a good proxy for genetic ancestry. We found that 96% of respondents elicited patient ethnicity information during the family history. Terms like “comes from originally” and “ancestry” were most often used (66% and 47% respectively), possibly to better inform assessment of disease or carrier risk. In response to the case studies, many participants asked the same questions regardless of patient ethnicity. Post-data review participants did not think patient ethnicity was as good a proxy for genetic ancestry as they had prior (p<.001). They also thought it was less useful for clinical risk assessment (p<.001), but did still have some clinical utility. Overall, surveyed GCs showed an awareness of the limitations of patient reported ethnicity but still found clinical utility in obtaining the information. This may be for residual risk calculation, determination of which screening to offer when insurance coverage is not available, or risk assessment when one partner is unavailable for testing. Future research is needed to understand these reasons. GCs may need to reconsider the role of ethnicity in their practice given its limitations and increased availability of expanded carrier screening.

Under author imposed embargo.
Available for download on Friday, July 06, 2018

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