Year: 2019
Type: dissertation
Study design: Observational Study
Abstract: Medical genetics and genetic technology have evolved rapidly during the past decades. Efficient use of genomic information requires understanding of how lay people perceive hereditary risks and how they interpret genomic risk information. This study explored lay perspectives on risks of common diseases and secondary findings of genome sequencing. The study consisted of two quantitative and two qualitative sub-studies. Quantitative sub-studies examined relationships between family history and perceived risk of diabetes, cardiovascular disease, cancer, and depression, physiological risk indicators and health behaviour. Multivariate regression analyses and structural equation modelling were used to analyse cross-sectional FINRISK 2007 (N=6258) and longitudinal FINRISK 2002 (N=909) health examination and survey data, collected by the Finnish National Institute for Health and Welfare. The qualitative inquiry used a hypothetical scenario to examine lay people’s concerns and needs related to genetic secondary findings. Participants imagined themselves receiving, via letter, a secondary finding predisposing to heritable cancer (Lynch syndrome or Li–Fraumeni syndrome) or heart condition (long QT syndrome or familial hypercholesterolemia). Participants (N=29) wrote down their immediate reactions and discussed the topic later in focus groups. The data were analysed through inductive thematic analysis. Family history was related to perceived risk of common diseases independently of sociodemographics, health behaviour, body weight, and depressive symptoms. In the five-year follow-up, risk indicators predicted higher perceived risk, but high perceived risk did not predict changes in physical activity, body weight, or blood glucose. Qualitative results showed that despite a positive attitude towards receiving secondary findings, people worried whether relevant counselling and preventive care would be accessible for individuals and families. Secondary findings concerning heart related conditions were perceived as less threatening compared to cancer related findings, or genetic risks for psychiatric or neurological disorders. People tend to view their disease risks optimistically, but risk perceptions of common diseases reflect actual risk indicators. Perceived risk of disease or individualized biomarker feedback alone, however, are unlikely to result in sustained changes in daily health behaviour. Increasingly individualized risk communication practices need to also direct attention to counselling and supporting self-efficacy. Lay illness representations need to be taken into account in risk communication, as previous understandings of diseases shape how people process new risk information. When reporting genomic results, preventive treatment paths for individuals and families need to be planned and communicated appropriately.
Source: Työväentutkimus Vuosikirja
Author: Marleena Vornanen
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2953927937