A special ELSI issue of GIM

In April 2011, the University of North Carolina Center for Genomics and Society hosted the 2011 ELSI Congress in Chapel Hill, North Carolina. This three-day conference, sponsored by the National Human Genome Research Institute’s ELSI Research Program (http://www.genome.gov/ELSI), was attended by more than 350 scholars from across the United States and eight other nations. As an interdisciplinary journal, Genetics in Medicine has always included ELSI (ethical, legal and social implications) research among its publications, but the variety of issues raised at this meeting of importance to our field prompted this special issue. Its 14 articles address a wide range of current ELSI research “investigating issues at the intersection of socially relevant concerns and human genomics” (Walker and Morrissey, p. 259).

ELSI research highlights challenges that arise in the rapidly changing contexts of genomic research, which create new opportunities and research partnerships, raise new questions about informed consent, and influence public perceptions of genomics. Landy and colleagues (p. 223), for example, examine how disease-advocacy organizations are beginning to participate in clinical research. Lehmann et al. (p. 268) explore how partnerships between academic researchers and personalized genetic testing companies can manage conflicts of interest while researchers study this new industry.

Assessments of informed consent for genomic research are multidimensional. Meisel and colleagues (p. 201) present a positive view, documenting high rates of acceptance for DNA collection in two long-standing epidemiological studies, and Pullman and colleagues (p. 229), who argue that the public is equipped to offer informed consent to genomic research, view biobanks as public goods. By contrast, Mongoven and Solomon (p. 183) contend that research using biobanks presents such a different context that application of standard informed-consent models is inappropriate.

Addressing consent and questions about data sharing, Edwards et al. (p. 236) highlight the significant disagreement between researchers and institutional review board (IRB) professionals, and Dressler and colleagues (p. 215) emphasize the need for IRB–researcher partnerships.

Fanos (p. 189) sets the stage for considering the psychological impact of new genetic technologies. Reiff et al. (p. 250) highlight strategies to reduce confusion when providing parents with the results of chromosomal microarray testing, and La Pean and colleagues (p. 207) document the needs of parents presented with abnormal newborn-screening results. A meta-analysis by Quinn and coauthors (p. 191) of consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers found low levels of knowledge about this technology.

Given the complexity and unsettled nature of many ethical issues in genomics, it is fitting that two articles present novel strategies for enhancing researchers’ understanding of public perspectives and of “bringing ELSI issues to life.” O’Daniel and colleagues (p. 243) describe a public engagement program, Genome Diner, to foster mutual trust and benefit for researchers and the general public. Similar goals motivated Rothenberg and Bush (p. 274), who present vignettes that illuminate the implications of genomic research for personal and professional relationships; these were performed to great acclaim at the ELSI Congress.

In addition to addressing specific socially significant issues in genomics and methods for enhancing communication and understanding between researchers and the public, the work presented at the Congress also addressed the state of the field of ELSI research. Walker and Morrissey (p. 259) conclude this special issue by taking stock of the types of ELSI research and scholarship and the contributing community.