ELSI Research Programme of the NHGRI

Abstract

Abstract The Ethical, Legal and Social Implications (ELSI) Programme is an extramural research programme at the National Human Genome Research Institute of the National Institutes of Health (NIH) designed to anticipate and address the ethical, legal and social issues raised by genetic and genomic research. The Programme funds a broad range of studies by investigators from multiple disciplines, incorporating a range of both empirical and nonempirical methods. The ELSI Programme also supports several Centres of Excellence and various studies ‘embedded’ in very large genomics projects, which provide a ‘natural laboratory’ for the rigorous exploration of many issues. Research supported by the Programme has had an impact on the practice of genomic research and medicine and on surrounding laws and regulations in a number of areas, including genetic discrimination and privacy, genetic testing and screening in various contexts, data sharing and intellectual property. The Programme has also had a discernible impact on the broader cultural milieu of genomics. Key Concepts The Ethical, Legal and Social Implications (ELSI) Programme is an extramural research programme at the National Human Genome Institute of the National Institutes of Health, designed to anticipate and address the ethical, legal and social issues raised by genetic and genomic research. The ELSI Programme receives ongoing guidance from the National Advisory Council for Human Genome Research and its Genomics and Society Working Group, as well as from periodic strategic planning processes. The ELSI Programme addresses many longstanding issues in genetic and genomic research (such as genetic discrimination and privacy) and increasingly tackles issues that were only dimly foreseeable at the Programme's inception, such as the implications of direct‐to‐consumer marketing of genetic tests, the implications of advances in the technologies that can facilitate genetic enhancement, the challenges involved in the return of incidental findings in genomic sequencing, the issues raised by the trend towards precision medicine and the increasing integration of genomic sequencing into clinical care. Most projects funded by the ELSI Programme are transdisciplinary and incorporate a wide range of both empirical and nonempirical methodologies. Most projects funded by the ELSI Programme are investigator‐initiated, reflecting in large part the Programme's desire to maintain the intellectual independence of its supported investigators. The ELSI Programme funds several Centres of Excellence to support the creation and maintenance of the infrastructure necessary to foster highly transdisciplinary research, facilitate the translation of such research into policy and practice and develop the next generation of investigators in the field. The ELSI Programme supports some ELSI studies that have been ‘embedded’ into very large genomics initiatives, providing a ‘natural laboratory’ for the rigorous empirical exploration of many ELSI issues that could previously be explored in only a hypothetical way. The impact of ELSI research frequently comes less from the direct translation of published study findings into formal policy than from ELSI investigators – operating independently as scholars – serving directly on commissions or policymaking bodies or providing expert testimony or other forms of expert analysis to those groups. ELSI research has had a discernible impact on the practice of genomic research and medicine as well as on surrounding laws and regulations in several clearly identifiable areas, such as genetic discrimination and privacy, genetic testing and screening in various contexts, data sharing and intellectual property. ELSI studies have produced incremental changes in the cultural milieu in which genomics research is conducted and genomic medicine is being delivered in the technologies and information (NHGRI ELSI Research Programme).