Table 1 Summary of translation considerations for genomic medicine and primary care
Variable in translation | Primary care | Genomic medicine | ELSi considerations |
|---|---|---|---|
Patient population | Families, communities, entire practices | Single, genetically unique patient | Respect for persons; relational decision making; |
Technological capacities | Basic, minimal | Data-intensive sequencing machines | Lack of clinical validity and utility for CCCs; professional responsibilities, patient informed consent, disclosure of information, interpreting actionable genetic risks |
Meeting health needs | Whole-person, generalist approaches to care; acuity to physical and psychosocial elements of health and wellbeing | Molecular conception of health and disease | Sociocultural and environmental understanding health; supra-genetic determinants of health |
Health information | Electronic health record | Electronic health record | Data-intensive storage platforms needed with controlled access; privacy concerns |
Graduate and post‐graduate training | Standardized | Under development | Professional responsibilities; lack of specific expertise |
Standards of care | Established by professional medical bodies | Under development | Resource and time constraints; professional capacities; management of incidental findings; rights ‘not to know’ |
Health education | Frontline health educators for global factors of health and disease | Educators on genomic determinants of disease | Resource and time constraints; misunderstanding of genetic determinants of health |