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T-22: Current Genetics Literacy, Perspectives, and Experiences of Cancer, Chronic, and Rare Disease Patients and Caregivers

Poster Presenter

      Kathleen D. Hoffman

      • Writer/Editor
      • Inspire
        United States


Due to the paradigm shift on personalized treatment, our research sought to find areas of understanding of common terms like precision medicine and genomics, among patients with cancer, rare or chronic diseases, using frame analysis of discussions and quantitative analysis of a survey.


On June 17, 2017, we placed a discussion prompt in 210 communities, collecting comments until Sept 17. We used framework analysis to identify themes. These results, led to a survey to learn members’ understanding of common terms in precision medicine. Inspire members completed it Sept 21-26, 2017.


Qualitative analysis results informed survey development. 193 members made 384 comments on the discussion about precision medicine. Three health condition groups made up 70% of commenters: oncology, rare disease and autoimmune disease. Overall, 24% had had some form of genetic testing and 14% were interested in having genetic testing. Confusion over somatic/tumor testing versus germline testing and other terms commonly used to discuss precision medicine emerged as one of the themes. Inspire members (2462) completed the survey representing 5 health condition groups: Oncology, Rare Disease, Autoimmune, GI and Other chronic conditions. The largest group was Oncology. 82% of participants felt that they understand the relationship between their genes and their health. 36% already had genetic testing. Of those, 30% wanted to do more testing. 57% would be interested in testing but had not done any testing yet. A series of questions determined familiarity with the language of precision medicine. There was a significant decline in familiarity with term specificity. Over 1/3 of the respondents had never heard of “precision medicine.” Although around 50% felt familiar with or heard and knew basic information on whole genome sequencing, only 17% had that same level of familiarity about single nucleotide polymorphism. Only 13% were familiar with or knew basic knowledge about exomes. Around 60% had never heard these phrases. 68% of respondents felt they would be likely or very likely to participate in a clinical trial involving genetic testing. Survey participants were willing to share their health data including genomic information with their doctors (62%) and researchers (56%) but are not as forthcoming with insurance companies (only 9% were very willing to share) or pharmaceutical companies (only 15%). 71% agreed or strongly agreed with the statement “I feel confident in my ability to understand information about genetic results.”


There has been an explosion of information about genes, genetics and genomics since the completion of the Human Genome Project. Media are filled with material on genome-sequencing data, the genetic contribution to disease development and stories of remissions achieved through pharmacogenomics. Clinicians are incorporating genetic and other molecular information into routine medical care. But public education in the sciences and specifically in genetics has not kept up. A historical review of pubic education shows a hit-and-miss pattern in state science standard requirements. Many people being diagnosed with cancer today may have only a minimal science background. And a recent review of the state standards on education about genetics and genomics call 85% inadequate, according to a 2011 report, "A Comprehensive Analysis of High School Genetics Standards: Are States Keeping Pace with Modern Genetics?" in CBE Life Science Education. This is attributed to omitting concepts related to genetic complexity, the importance of environment to phenotypic variation, differential gene expression, and the differences between inherited and somatic genetic disease. Results from our qualitative analysis of in-stream discussion mirrored the confusion between germline and tumor or somatic mutations found in other research. And our survey found that as the terminology became more technical, respondents demonstrated less familiarity. Future research should look at genomic-related language for comprehension to identify factors influencing informed consent and medical decision-making. Specifically identifying terms for use in the clinical setting is key. This formative research is a first step in advancing knowledge of patient familiarity with these technologies. Given this research suggesting a poor understanding of relevant concepts, further study is needed.