Comprehension of skin cancer genetic risk feedback in primary care patients Journal Article


Authors: Khan, E.; Kaphingst, K. A.; Meyer White, K.; Sussman, A.; Guest, D.; Schofield, E.; Dailey, Y. T.; Robers, E.; Schwartz, M. R.; Li, Y.; Buller, D.; Hunley, K.; Berwick, M.; Hay, J. L.
Article Title: Comprehension of skin cancer genetic risk feedback in primary care patients
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. © 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
Keywords: adult; aged; major clinical study; cancer risk; melanoma; skin cancer; genetic variability; high risk patient; genetic risk; genetic screening; mc1r; melanocortin 1 receptor; primary medical care; genetic testing; comprehension; qualitative analysis; intermediate risk patient; risk perception; mc1r gene; human; male; female; article; genomic comprehension
Journal Title: Journal of Community Genetics
Volume: 13
Issue: 1
ISSN: 1868-310X
Publisher: Springer  
Date Published: 2022-02-01
Start Page: 113
End Page: 119
Language: English
DOI: 10.1007/s12687-021-00566-9
PROVIDER: scopus
PMCID: PMC8799794
PUBMED: 34797550
DOI/URL:
Notes: Article -- Export Date: 1 March 2022 -- Source: Scopus
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MSK Authors
  1. Yuelin Li
    220 Li
  2. Jennifer L Hay
    266 Hay
  3. Elizabeth A Schofield
    162 Schofield