Understanding Genomic Knowledge in Rural Appalachia: The West Virginia Genome Community Project

Abstract

Purpose Rural communities have limited knowledge about genetics and genomics and are also underrepresented in genomic education initiatives. The purpose of this project was to assess genomic and epigenetic knowledge and beliefs in rural West Virginia. Sample A total of 93 participants from three communities participated in focus groups and 68 participants completed a demographic survey. The age of the respondents ranged from 21 to 81 years. Most respondents had a household income of less than $40,000, were female and most were married, completed at least a HS/GED or some college education working either part-time or full-time. Method A Community Based Participatory Research process with focus groups and demographic questionnaires was used. Findings Most participants had a basic understanding of genetics and epigenetics, but not genomics. Participants reported not knowing much of their family history and that their elders did not discuss such information. If the conversations occurred, it was only during times of crisis or an illness event. Mental health and substance abuse are topics that are not discussed with family in this rural population. Conclusions Most of the efforts surrounding genetic/genomic understanding have focused on urban populations. This project is the first of its kind in West Virginia and has begun to lay the much needed infrastructure for developing educational initiatives and extending genomic research projects into our rural Appalachian communities. By empowering the public with education, regarding the influential role genetics, genomics, and epigenetics have on their health, we can begin to tackle the complex task of initiating behavior changes that will promote the health and well-being of individuals, families and communities.

Factors Predicting Participation in the Prospective Genomic Sequencing Study, Total Cancer Care (TCC), in Kentucky

“…Given the underrepresentation of rural patients in genomic research studies, in this study we hypothesized that patients in the Kentucky Appalachian region might be less likely to participate in genomic‐based cancer research 18 . However, the vast majority of Appalachian subjects participated (564/626, 90%), and there was no significant difference in participation between the cohorts.…”

How does the genomic naive public perceive whole genomic testing for health purposes? A scoping review

“…Sixteen studies were included in the analysis [46][47][48][49][50][51][52][53][54][55][56][57][58][59][60][61]. Most were quantitative (n = 12), using questionnaires to assess public perceptions [46-52, 54, 56, 57, 59, 61].…”

“…Aside from general concerns about the nature of genomic testing, concern regarding communication of genetic information among family members was also highlighted [47,51,53,56,58,61]. Ballard et al [47] noted that most participants, whether asked to imagine either they or a family member had a genetic condition, believed other family members who might also be affected should be notified.…”

“…Participants cited several reasons for this including: upsetting children and the creation of family issues, older family members not willing to disclose information and stigmatisation by the community, particularly if the information in question regarded mental illness or substance abuse disorders [58]. Participants also suggested they would only discuss genetic risk if there was a health crisis in the family [58]. Etchegary et al [51], although noting that many participants would want to share information, found that those with the highest education levels and income were less likely to share results with family members.…”

“…Diversity in participants is also important as families are often a product of their cultural context. Family dynamics were addressed in six studies [47,51,53,56,58,61], suggesting that the structure of a family is highly influential, and therefore, the familial nature of genomic information cannot be understated. Not all individuals believe genomic testing is 'helpful' or will produce desirable information [67].…”