Research Ethics Recommendations for Whole-Genome Research: Consensus Statement

Advances in technology have made it possible to sequence a whole human genome [1,2]. National and international funding initiatives have stimulated wholegenome research activities [3,4], and media coverage of both the science [5,6] and the emerging commercial offerings [7,8] related to genome research has heightened public awareness and interest in personal genomics. As technology continues to advance, whole-genome research activities seem likely to intensify and expand, necessitating carefully considered consensus guidelines for ethical research practice. To date, there has been only minimal consideration of the research ethics issues associated with this work [9–12]. We therefore convened an interdisciplinary consensus workshop to develop ethically rigorous and practical guidance for investigators and research ethics boards. What follows are recommendations on the four topics that were the focus of the workshop. These topics—consent, withdrawal from research, return of research results, and public data release—were selected because they were viewed as being among the most pressing research ethics issues and as representing areas where wholegenome analysis creates unique challenges. They are not, of course, the only policy issues that need to be considered; commercialization, patenting, benefit sharing, and the possibility of genetic discrimination are among other topics that warrant reflection. Regardless, the four topics covered in this paper are current issues worthy of immediate attention. The paper starts with initial considerations, including general recommendations about governance and the characterization of the research activities related to the whole genome. It is important to note that while there was consensus on all recommendations, there was a good deal of debate about the degree to which they satisfy existing ethical and legal norms [13]. All participants believed that we need both empirical research and continued conceptual analysis (Box 1). These are early days in the field of whole-genome research. Research ethics guidance is needed immediately, but we should continue to explore the ethical, legal, and social implications of this rapidly evolving field (Box 2). Indeed, the door must remain open for further reflection on these and other social concerns.