Abstract
Few studies have examined comprehension and miscomprehension of genetic risk feedback for moderate-risk genes in the general population. We examined the prevalence and nature of accurate and inaccurate genetic risk feedback comprehension among those who received genetic testing for melanocortin-1-receptor (MC1R) gene variants that confer moderate melanoma risk. Participants (N = 145 Albuquerque, NM) were tested as part of a randomized controlled trial. Two weeks after receiving MC1R genetic risk feedback, participants answered open-ended questions regarding their reactions to the MC1R feedback report. Participants’ comprehension of their feedback (average-risk or higher-risk for melanoma) was evaluated through qualitative analysis of open-ended responses. Most participants demonstrated comprehension of their feedback results (i.e., 63% of average-risk participants [ARPs]; 51% of higher-risk participants [HRPs]). Miscomprehension was evident in fewer participants (i.e., 16% of ARPs, 11% of HRPs). A few ARPs misunderstood the purpose of testing, whereas a few HRPs reported confusion about the meaning of their risk feedback. Some participants’ responses to the open-ended questions were too ambiguous to ascertain comprehension or miscomprehension (i.e., 21% of ARPs, 38% of HRPs). Taken together, these findings suggest that genetic testing feedback for MC1R risk variants is largely comprehensible to general population participants. This study adds to the work examining comprehension and usage of common, moderate risk genetic information in public health contexts. However, to maximize the utility of genetic risk information in the general population, further research is needed to investigate and address areas where common genetic risk feedback misunderstandings occur.
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Data Availability
The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.
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Acknowledgements
We are grateful to Jennifer Bowers, PhD, and Stephanie Christian, MPH, for their assistance with qualitative data analysis.
Funding
This study was supported in part by the National Cancer Institute’s Research Grant (R01 CA181241), Support/Core Grant (P30 CA008748), and Training Grant (T32 CA009461). This research was partially supported by UNM Comprehensive Cancer Center Support Grant NCI P30CA118100 and the Behavioral Measurement and Population Science shared resource.
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Erva Khan: conceptualization, investigation, writing—original draft. Kimberly A. Kaphingst: conceptualization, investigation, writing – original draft. Kirsten Meyer White: data curation, investigation, project administration, writing—review and editing. Andrew Sussman: investigation, writing—review and editing. Dolores Guest: investigation, writing – review and editing. Elizabeth Schofield: formal analysis, visualization, writing—review and editing. Yvonne T. Dailey: investigation, writing—review and editing. Erika Robers: data curation, investigation, project administration, writing—review and editing. Matthew R. Schwartz: investigation, writing—review and editing. Yuelin Li: formal analysis, methodology, visualization, writing—review and editing. David Buller: investigation, writing—review and editing. Keith Hunley: investigation, writing—review and editing. Marianne Berwick: funding acquisition, investigation, supervision, writing—review and editing. Jennifer L. Hay: conceptualization, funding acquisition, investigation, supervision, writing—original draft.
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Khan, E., Kaphingst, K.A., Meyer White, K. et al. Comprehension of skin cancer genetic risk feedback in primary care patients. J Community Genet 13, 113–119 (2022). https://doi.org/10.1007/s12687-021-00566-9
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DOI: https://doi.org/10.1007/s12687-021-00566-9