Susanne B Haga

Primary Theme: Information, Society & Culture

The landmark sequencing of the human genome in 2003 heralded a new era in biomedical research, one that promised to accelerate the pace of discovery and open up entirely new avenues to understanding the genetic molecular basis of disease. A key result thus far has been the development of genomics-based tools to diagnose, predict disease onset or recurrence, tailor treatment options and assess treatment response. These advancements have developed concurrently with electronic medical records, digital (e-health) technologies and the shift toward patient-centered care. As a result of the tools now available to characterize biospecimens and collect a range of personal data through wearables and apps, researchers face an influx of heterogeneous datasets and many challenges (and opportunities) for data analysis. Translating these discoveries into actionable diagnostics, interventions and therapies remains a substantial challenge. A complex array of scientific, regulatory, ethical and financial hurdles lie between the laboratory bench and the integration of a safe and effective application into clinical practice.