Self-reported patient ethnicity in genetic counseling practice: a closer look at its current role and room for improvement

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\u3c.001). They also thought it was less useful for clinical risk assessment (p\u3c.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

Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

Abstract Background Current professional society guidelines recommend genetic carrier screening be offered on the basis of ethnicity, or when using expanded carrier screening panels, they recommend to compute residual risk based on ethnicity. We investigated the reliability of self-reported ethnicity in 9138 subjects referred to carrier screening. Self-reported ethnicity gathered from test requisition forms and during post-test genetic counseling, and genetic ancestry predicted by a statistical model, were compared for concordance. Results We identified several discrepancies between the two sources of self-reported ethnicity and genetic ancestry. Only 30.3% of individuals who indicated Mediterranean ancestry during consultation self-reported this on requisition forms. Additionally, the proportion of individuals who reported Southeast Asian but were estimated to have a different genetic ancestry was found to depend on the source of self-report. Finally, individuals who reported Latin American demonstrated a high degree of ancestral admixture. As a result, carrier rates and residual risks provided for patient decision-making are impacted if using self-reported ethnicity. Conclusion Our analysis highlights the unreliability of ethnicity classification based on patient self-reports. We recommend the routine use of pan-ethnic carrier screening panels in reproductive medicine. Furthermore, the use of an ancestry model would allow better estimation of carrier rates and residual risks

Additional file 3: Figure S1. of Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

Plot of the first and second principal components obtained by Principal Component Analysis on 44 geographic groups (described in Additional file 2: Table S1) and 1142 AIMs. Each geographic group is shown as a point and is colored according to the continental group to which it belongs. The plot illustrates that the AIMs separate most continental groups well, but the Middle Eastern and Central Asian groups do not form distinct clusters. (PNG 49 kb

Additional file 2: of Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

Supplementary tables. (XLSX 39181 kb