About this Research Topic
The use of human genetic data has the potential to significantly improve healthcare, however a range of scientific, ethical and practical implementation barriers remain. As we move towards delivering human genomics at the population-scale, genetic research must increasingly be framed within the context of public health. Studies must be designed specifically to improve the evidence base to inform implementation, whilst maintaining public trust. Issues such as data security, privacy, equity and the potential misuse of genetic data must be taken seriously.
Some of the main implementation challenges for delivering human genomics at scale into public health include: how to effectively convert large amounts of human DNA sequence data into meaningful medical information; the genomic literacy of the public and education of a new workforce; the interpretation and responsible disclosure of genetic information in society; the integration of genetic and phenotypic data into existing medical support systems for clinical decision making; precision public health policy; and precise, granular and interoperable coding to enable outcome assessment.
This Research Topic aims to explore a range of issues currently faced in the field of human public health genomics, especially those spanning translational research and implementation. Articles will reflect current complexities and challenges within particular disease areas or fields, and will present emerging solutions through research.
Subjects will include, but will not be limited to:
• Building the computational infrastructure required for scalable and secure collaborative genomic research, (i.e. integration of whole genome sequencing data and longitudinal clinical phenotypes)
• The growing need to capture genotypic and phenotypic heterogeneity for rare genetic disease longitudinally through clinical registries
• The challenge of assigning accurate phenotypes for genetic and biomarker studies for complex multifactorial diseases comprising of different sub-groups
• The interpretation of pathogenic variants in otherwise healthy adults of varying ages, to inform the interpretation of penetrance and clinical actionability
• Public engagement in genomics and how it can help shape future research directions
• The varying quality of risk information being returned in direct-to-consumer genetic tests, and how it performs when measured in independent longitudinal cohort studies
• Coding for genetic and rare diseases
• Policy for precision public health
Keywords: Genomics, precision phenotyping biomarkers, prevention, translation, public health