BackgroundPrecision medicine development is driven by the possibilities of next generation sequencing, information technology and artificial intelligence and thus, raises a number of ethical questions. Empirical studies have investigated such issues from the perspectives of health care professionals, researchers and patients. We synthesize the results from these studies in this review.MethodsWe used a systematic strategy to search, screen and assess the literature for eligibility related to our research question. The initial search for empirical studies in five data bases provided 665 (...) different records and we selected 92 of these publications for inclusion in this review. Data were extracted in a spreadsheet and categorized into different topics representing the views on ethical issues in precision medicine.ResultsMany patients and professionals expect high benefits from precision medicine and have a positive attitude towards it. However, patients and professionals also perceive some risks. Commonly perceived risks include: lack of evidence for accuracy of tests and efficacy of treatments; limited knowledge of patients, which makes informed consent more difficult; possible unavailability of access to precision medicine for underprivileged people and ethnic minorities; misuse of data by insurance companies and employers, potential of racial stigmatization due to genetic information; unwanted communication of incidental findings; changes in doctor-patient-relationship through focusing on data; and the problem that patients could feel under pressure to optimize their health.ConclusionsNational legislation and guidelines already minimize many risks associated with precision medicine. However, from our perspective some problems require more attention. Should hopes for precision medicine’s benefits be fulfilled, then the ethical principle of justice would require an unlimited access to precision medicine for all people. The potential for autonomous patients’ decisions must be greatly enhanced by improvements in patient education. Harm from test results must be avoided in any case by the highest possible data security level and communication guidelines. Changes in the doctor-patient relationship and the impact of precision medicine on the quality of life should be further investigated. Additionally, the cost-effectiveness of precision medicine should be further examined, in order to avoid malinvestment. (shrink)

Precision medicine and digital phenotyping are two prominent data-based approaches within digital medicine. While precision medicine historically used primarily genetic data to find targeted treatment options, digital phenotyping relies on the usage of big data deriving from digital devices such as smartphones, wearables and other connected devices. This paper first focusses on the aspect of data type to explore differences and similarities between precision medicine and digital phenotyping. It outlines different ways of data collection and production and the consequences thereof. (...) Second, it shows how these sorts of data influence dominant beliefs in the field: The field of precision medicine relying on the dominant understanding of ‘genetic determinism’ imported from genetics, digital phenotyping building on the logic of ‘data fundamentalism’. In the end, the analysis shows how digital data informs potentials as well as challenges of precision medicine and digital phenotyping: a better health care for individuals connected with individualisation and responsibilisation for all, with a prognosed shift from reactive to preventive medicine. Additionally, data-based approaches might facilitate epistemological and ontological redirections for the whole field of medicine that will also affect knowledge production and a reassessment of the value of different types of knowledge with all its consequences. Institutionally, it might lead to shifts in distribution of power to experts in big data related technologies, i.e. private companies. (shrink)

Precision medicine is emerging as a scientific bandwagon within the contemporary biomedical sciences in the United States. PM brings together concepts and tools from genomics and bioinformatics to develop better diagnostics and therapies based on individualized information. Developing countries like China and Brazil have also begun pursuing PM projects, motivated by a desire to claim genomic sovereignty over its population. In spite of commonalities, institutional arrangements produced by the history of genomics research in China and Brazil are ushering PM along (...) different trajectories. In the Chinese case, we identify a strong state-backed push for PM combined with a dynamic network of international academic and private actors along the lines of networked technonationalism that has made large-scale, speculative PM projects possible. The Brazilian case is characterized by an institutional void at the federal level in which PM is driven by domestic academic actors in universities in the regional level, resulting in smaller scale, needs-driven PM projects. Through these cases, this paper shows how a scientific bandwagon adapts to national histories and institutions. Through this peripheral translation of the scientific bandwagon, the global infrastructure of biomedical knowledge has the potential to be transformed. (shrink)

Since the completion of the Human Genome Project (HGP), biomedical sciences have moved away from a gene-centred view and towards a multi-factorial one in which environment, broadly speaking, plays a central role in the determination of human health and disease. Environmental exposures have been shown to be highly prevalent in disease causation. They are considered as complementary to genetic factors in the etiology of diseases, hence the introduction of the concept of the “exposome” as encompassing the totality of human environmental (...) exposures, from conception onwards (Wild in Cancer Epidemiol Biomark Prev 14:1847–1850, 2005), and the launch of the Human Exposome Project (HEP) which aims to complement the HGP. At first sight, and seen as complementary to the genome, the exposome could thus appear as contributing to the rise of novel postgenomic deterministic narratives which place the environment at their core. Is this really the case? If so, what sort of determinism is at work in exposomics research? Is it a case of environmental determinism, and if so, in what sense? Or is it a new sort of deterministic view? In this paper, we first show that causal narratives in exposomics are still very similar to gene-centred deterministic narratives. They correspond to a form of Laplacian determinism and, above all, to what Claude Bernard called the “determinism of a phenomenon”. Second, we introduce the notion of “reversed heuristic determinism” to characterize the specific deterministic narratives present in exposomics. Indeed, the accepted sorts of external environmental exposures conceived as being at the origins of diseases are determined, methodologically speaking, by their identifiable internal and biological markers. We conclude by highlighting the most relevant implications of the presence of this heuristic determinism in exposomics research. (shrink)