The mediating effects of public genomic knowledge in precision medicine implementation: A structural equation model approach

• Published in: PloS one Vol. 15; no. 10; p. e0240585
• Main Authors: Mogaka, John Jules O, Chimbari, Moses J
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 14.10.2020; Public Library of Science (PLoS)
• Subjects: Biology and Life Sciences; Biomarkers; Biomarkers, Tumor - genetics; Biomedical research; Breast cancer; Breast Neoplasms - genetics; Colorectal carcinoma; Colorectal Neoplasms - genetics; Confidence intervals; Disease; Female; Genetic Testing - trends; Genetics, Population; Genome, Human - genetics; Genomes; Genomics; Humans; Influence; Medicine; Medicine and Health Sciences; Methods; Multivariate statistical analysis; Mutation; Patients; Population; Precision medicine; Precision Medicine - trends; Public health; Research and Analysis Methods; Structural equation modeling; Variables; South Africa
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0240585

Precision medicine emphasizes predictive, preventive and personalized treatment on the basis of information gleaned from personal genetic and environmental data. Its implementation at health systems level is regarded as multifactorial, involving variables associated with omics technologies, public genomic awareness and adoption tendencies for new medical technologies. However, interrelationships of the various factors and their synergy has not been sufficiently quantified. Based on a survey of 270 participants involved in the use of molecular tests (omics-based biomarkers, OBMs), this study examined how characteristics of omics biomarkers influence precision medicine implementation outcomes (ImO) through an intermediary factor, public genomic awareness (represented by User Response, UsR). A structural equation modelling (SEM) approach was applied to develop and test a 3 latent variable mediation model; each latent variable being measured by a set of indicators ranging between three and six. Mediation analysis results confirmed a partial mediation effect (an indirect effect represented as the product of paths 'a' and 'b' (a*b)) of 0.36 at 90% confidence level, CI = [0.03, 9.94]. Results from the individual mediation paths 'a' and 'b' however, showed that these effects were negative(a = -0.38, b = -0.94). Path 'a' represents the effect of characteristics of OBMs on the mediator, UsR; 'b' represents the effect of the mediator, UsR on implementation outcomes, ImO, holding OBMs constant. The results have both theoretical and practice implications for biomedical genomics research and clinical genomics, respectively. For instance, the results imply better ways have to be devised to more effectively engage the public in addressing extended family support for extended family cascade screening, especially for monogenic hereditary conditions like BRCA-related breast cancer and colorectal cancer in Lynch syndrome families. At basic biomedical research level, results suggest an integrated biomarker development pipeline, with early consideration of factors that may influence biomarker uptake. The results are also relevant at health systems level in indicating which factors should be addressed for successful.