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Comprehension of skin cancer genetic risk feedback in primary care patients.

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.

Genetic testing↗

Cancer genetics.

The accumulation of multiple genetic changes underlies the process of tumorigenesis, and both dominantly acting oncogenes and inactivated tumor suppressor genes co-exist in the same tumor. Individual mutations are thought to independently contribute to the kaleidoscopic transformed phenotype. Several examples have now been found of mutations in genes that, through different mechanisms, act on central control points either to ensure genome stability or to regulate the common pathways that signal cell proliferation, survival and differentiation. Mutations at these loci may have multiple, and apparently unrelated, phenotypic consequences.

Animals↗

Breast cancer genetics.

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Ataxia Telangiectasia Mutated Proteins↗