作者: Niccolò Tempini , Sabina Leonelli
DOI: 10.1002/9780470015902.A0005177.PUB2
关键词: Sociology of scientific knowledge 、 Biomedicine 、 Health care 、 Medicine 、 Personalization 、 Living systems 、 Data science 、 Translational medicine 、 Bioinformatics 、 Precision medicine 、 Data sharing
摘要: At the turn of millennium, Human Genome Project and upcoming publication human genome sequence promised to open an entirely new approach healthcare, based on genotype individual. This was dubbed personalised medicine (PM). However, analysis sequencing results revealed that complexity biological world had been underestimated. The major project revolutionising through genomics requires a more sophisticated multilevel understanding living systems, which in demands data, models modes intervention humans non-human organisms. Thus, most advanced applications PM involve complex interweaving medical knowledge, as well increasing attention technical systems data about any specific individual could be processed. Further, development needs include consideration several key ethical issues, ranging from privacy control risk dependence technologies will widen gap between haves have-nots both globally within one country. Key Concepts Personalised describes direction solutions are expected evolve, towards personalisation tailoring therapies treatment regimes cut divide patient populations. motor this innovation genomic profiling techniques, nuclear DNA but also ones latter such proteomics, metabolomics, transcriptomics so on. Biomedicine is interdisciplinary space involving knowledge/expertise IT, where scientific knowledge phenomena mobilised order devise problems. Data-intensive science mode research emerging paramount age characterised by reliance researchers complex, distributed infrastructures for sharing analysis. Postgenomics indicates efforts at creating life disease put other biosciences all levels relation each other. Translational fast-developing domain debate aimed improving translatability discoveries techniques lab into solutions, drugs can effectively implemented point healthcare delivery. Keywords: human project; healthcare; personalised medicine; precision medicine; pharmacogenomics; data-intensive science; translational