Genomics and precision medicine

Abstract

Abstract Increasing knowledge of the human genome is providing useful insights into genetic contributions to human illnesses and the management of certain diseases. Some within scientific communities suggests the need for radical transformation of the ‘traditional’ understanding of human health and illness into genomics-based systems of precision medicine resting on large genetic banks, ‘big data’ and data clouds, and pharmacogenomics. This will require a radical shift in the focus and trajectory of biomedical research and standards of care in medicine around the world. Those contesting this view note compelling scientific evidence that the health of populations is related to social determinants rather than to genetic make-up of individuals. In these discussions there is a paucity of voices from developing countries, which are home to two-thirds of the world’s inhabitants. This chapter offers perspectives of a physician from the trenches in Pakistan, a low- to middle-income country. It highlights the need for attention to the implications of personalized medicine and genomics-based research and medical practice within global contexts rather than narrow parochial interests. I discuss the ethical challenges faced at professional, national, and global levels related to fairness, equity, justice, and solidarity in healthcare when balancing rights of individuals versus duties and responsibilities to society. In a world with limited resources, increasing inequalities and expanding North–South power differentials, precision medicine raises troubling questions about the ethos of healthcare professions, the trajectory of scientific research, and who will be in the saddle when these decisions are made.