Uncovering the genetic basis of disease and the quest for personalized medicine
Eran Elhaik håller docentföreläsning i biologi.
Personalized medicine is thought of as the utilization of epidemiological knowledge to a granular classification of patients into cohorts that differ in their disease susceptibility, disease prognosis, or response to treatment and is considered the epitome of 21 st -century medicine. According to one vision, people do not need to wait to get sick and can evaluate their disease risk a priori by ordering direct-to-consumer tests and sending a DNA sample to a genetic testing company. After their genomes have been sequenced, analyzed using bioinformatic tools, annotated using reference databases, and scanned against a disease catalog, a risk-assessment is produced. The person can then follow up on this provisional diagnosis with primary care physicians or genetic counselors that may recommend prevention steps or early treatment. But is this a realistic vision? What are the hurdles that stand in our way, and what are the risks and rewards?