The Ethics of Large-Scale Genomic Research

Benjamin E. Berkman, Zachary E. Shapiro, Lisa Eckstein, Elizabeth R. Pike
Chapter in Ethical Reasoning in Big Data
Part of the series Computational Social Sciences pp 53-69

Abstract

The potential for big data to advance our understanding of human disease has been particularly heralded in the field of genomics. Recent technological advances have accelerated the massive data generation capabilities of genomic research, which has allowed researchers to undertake larger scale genomic research, with significantly more participants, further spurring the generation of massive amounts of data. The advance of technology has also triggered a significant reduction in cost, allowing large-scale genomic research to be increasingly feasible, even for smaller research sites. The rise of genetic research has triggered the creation of many large-scale genomic repositories (LSGRs) some of which contain the genomic information of millions of research participants. While LSGRs have genuine potential, they also have raised a number of ethical concerns. Most prominently, commentators have raised questions about the privacy implications of LSGRs, given that all genomic data is theoretically re-identifiable. Privacy can be further threatened by the possibility of aggregation of data sets, which can give rise to unexpected, and potentially sensitive, information. Beyond privacy concerns, LSGRs also raise questions about participant autonomy, public trust in research, and justice. In this chapter, we explore these ethical challenges, with the goal of elucidating which ones require closer scrutiny and perhaps policy action. Our analysis suggests that caution is warranted before any major policies are implemented. Much attention has been directed at privacy concerns raised by LSGRs, but perhaps for the wrong reasons, and perhaps at the expense of other relevant concerns. We do not think that there is yet sufficient evidence to motivate enactment of major policy changes in order to safeguard welfare interests, although there might be some stronger reasons to worry about subjects’ non-welfare interests. We also believe that LSGRs raise genuine concerns about autonomy and justice. Big data research, and LSGRs in particular, have the potential to radically advance our understanding of human disease. While these new research resources raise important ethical concerns, any policies implemented concerning LSGRs should be carefully tailored to ensure that research is not unduly burdened.

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