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

The benefits of genomic testing are primarily reported in rare disease, cancer diagnosis and disease management. However, as research into its application in common, more complex conditions grows, as well as the increased prevalence of carrier screening programs, the genomic naive public is more likely to be offered testing in future. To promote social acceptability and ethical application of this technology, it is essential that public perceptions of genomics are considered. Previous studies, however, have primarily focussed on the views of those with genetic conditions or those undergoing genetic testing. The aim of this scoping review is to investigate the genomic naive public's perceptions of clinical genomics and clinical genomic testing. Embase, MEDLINE and PubMed databases were searched, with a total of 3460 articles identified. Data analysis was organised according to the nonadoption, abandonment, scale-up, spread, and sustainability (NASSS) framework. Sixteen full-text articles were included in the final analysis. Most of the studies used questionnaires to determine attitudes of the public toward clinical genomics (n = 12). Public perceptions were found to underpin technology (Domain 2), value proposition (Domain 3), the adopter system (Domain 4) and the wider context (Domain 6) of the NASSS framework, highlighting its importance when considering implementation of an innovative technology such as genomic testing. Our study shows public perceptions are diverse, and highlights the need for more studies on the views of underrepresented groups and the impact of cultural contexts on perceptions.

Structured approaches to implementation of clinical genomics: A scoping review.

PURPOSE: This study aimed to assess the extent to which structured approaches to implementation of clinical genomics, proposed or adapted, are informed by evidence. METHODS: A systematic approach was used to identify peer-reviewed articles and gray literature to report on 4 research questions: 1. What structured approaches have been proposed to support implementation? 2. To what extent are the structured approaches informed by evidence? 3. How have structured approaches been deployed in the genomic setting? 4. What are the intended outcomes of the structured approaches? RESULTS: A total of 30 unique structured approaches to implementation were reported across 23 peer-reviewed publications and 11 gray literature articles. Most approaches were process models, applied in the preadoption implementation phase, focusing on a "service" outcome. Key findings included a lack of implementation science theory informing the development/implementation of newly designed structured approaches in the genomic setting and a lack of measures to assess implementation effectiveness. CONCLUSION: This scoping review identified a significant number of structured approaches developed to inform the implementation of genomic medicine into clinical practice, with limited use of implementation science to support the process. We recommend the use of existing implementation science theory and the expertise of implementation scientists to inform the design of genomic programs being implemented into clinical care.