Table 1 Challenges in Public Health Genomics and what public health authorities can do about them?
The ultimate goal of PHG Once we understand both the genetic and environmental factors involved in the causation of a disease, and how they interact, it will be possible to devise effective preventive interventions targeted at strata of the population with specific genotypes | |
|---|---|
Challenges | Possible role of PH authorities |
Translational research | • Conducting systematic reviews/meta-analyses of reported genetic associations; • Development of evidence-based policy and practice guidelines; • Dissemination, implementation and diffusion of research; • Monitoring population health impact |
Epidemiological tools | • Study how biobanks/disease registries can be extended with genomic information |
Reconciling traditional public health concerns with effective health interventions tailored at the level of groups of individuals | • Serving as the honest broker for emerging genomic application in practice; • Implementing evidence-based genomic applications; • Preventing premature use, misuse and overuse of genomic applications; • Evaluating current public health interventions using genomic tools; • Elaborating appropriate methods to collect and monitor the genome-based research, identifying information gaps (population and individual level), formulating policy development; • Systematic evaluation in different populations and individuals; • Quantifiying the use of genetic tests and services, the quality of the tests used, and compare this with established standards and guidelines; • Considering to change the public health approach into looking at the individual first, then subpopulations, followed by the population as a whole |
Ethical, legal and social issues | • Monitoring the implications of genome-based knowledge in a broad social context, thereby improving consumer protection; • Ensuring the confidentiality, privacy and autonomy of the population; • Establishing management pathways that describe the process of feedback of research information to people enrolled in biobanks/registries that uses genomic information; • Ensuring the proper education of first-line caregivers, physicians, researchers working with human genomics data and the general population, to ensure that valid information reaches the population; • Taking an active role in the transformation of current biobanks to genomic biobanks; • Participate actively in updating the informed consent process (proper counselling session, discussing the possible outcome for relatives, the possibility to withdraw from the study, international digital datasharing, feeding back research results...); • Encountering the possibilities of social inequalities in health, (possibly) introduced by genome-based knowledge; • Merging the competing interests of all different stakeholders into a collaborative framework that rewards both scientific innovations and appropriate clinical applications |