Challenges and Legal Gaps of Genetic Profiling in the Era of Big Data

Abstract

Profiling of individuals based on inborn, acquired, and assigned characteristics is central for decision making in health care. In the era of omics and big smart data, it becomes urgent to differentiate between different data governance affordances for different profiling activities. Typically, diagnostic profiling is in the focus of researchers and physicians, and other types are regarded as undesired side-effects; for example, in the connection of health care insurance risk calculations. Profiling in a legal sense is addressed, for example, by the EU data protection law. It is defined in the General Data Protection Regulation as automated decision making. This term does not correspond fully with profiling in biomedical research and healthcare, and the impact on privacy has hardly ever been examined. But profiling is also an issue concerning the fundamental right of non-discrimination, whenever profiles are used in a way that has a discriminatory effect on individuals. Here, we will focus on genetic profiling, define related notions as legal and subject-matter definitions frequently differ, and discuss the ethical and legal challenges.