Embedded ELSI component of the Human Pangenome Reference Consortium

In 2022, the Human Pangenome Reference Consortium (HPRC) established an embedded Ethical, Legal, and Social Implications (ELSI) Team. It is composed of a core leadership group, an expert working group and task-oriented subgroups focused on issues of emerging concern to the Consortium. The Team is charged with addressing, advising, doing research, and developing policy recommendations for HPRC, as well as informing HPRC about ELSI issues as they relate to and arise from the process of generating the human reference pangenome. For more information about the origins of ELSI and its international parallels, please visit: https://doi.org/10.1016/j.xgen.2022.100150.

In the United States, ELSI refers to the study of the ethical, legal and social implications of genetics and genomics. It was introduced in 1989 by The National Center for Human Genome Research (NCHGR) and its partner, the Department of Energy (DOE) during the launch of the Human Genome Project. In 1993, Congress incorporated a statutory mandate to devote at least 5% of the budget to ELSI in 1993 (PL 103-43). In 1997, this mandate carried over when NCHGR became the National Human Genome Research Institute (NHGRI, codified in statute in 2006, PL109-482). The HPRC and its ELSI Team, supported by NHGRI, is a part of this legacy. Today, ELSI researchers are typically embedded in or work in close proximity to large life science initiatives, such as the HPRC.

The ELSI Team is embedded within and across HPRC scientific activities. It focuses on anticipating and responding to issues as they arise in the development of the pangenome resource (sequences and cell lines). The ELSI Team also pursues ELSI scholarship and supports interaction and engagement efforts with the public, other stakeholders and rights-holders. The ELSI Team uses a diverse mix of methods and approaches to accomplish this work.

In addition to the ethical, legal and social aspects, the HPRC ELSI Team specifically seeks to recognize and consider cultural and historical implications in its work. Indigenous scholars have urged that ‘culture’ be added to the approaches DOI: 10.1159/000092651,, https://doi.org/10.1177/0306312713483893, https://doi.org/10.1111/aman.13043, due to the missteps of several past major genomics projects, most notably the Human Genome Diversity Project (see Race to the Finish). Additionally, ‘history’ is important to include to ensure the recognition and implications of the fraught history of genomics research and connection with eugenics, scientific racism and the extraction and exploitation of Indigenous Peoples (See, for example, https://www.nejm.org/doi/full/10.1056/NEJMp1915987, https://journals.sagepub.com/doi/10.1177/0162243912470009). So, the ELSI Team work hard to identify circumstances and conditions where vulnerable populations may not be adequately protected and may benefit from the application of CARE Principles for Indigenous Data Governance.