The National Institutes of Health (NIH) is seeking grant applications that propose to study the ethical, legal, and social implications (ELSI) of human genome research. Participating institutes and centers include the: Cancer, Aging, Child Health and Human Development, Deafness and Other Communication Disorder, Environmental Health Sciences, and Neurological Disorders and Stroke, and the Human Genome Research.
The Funding Opportunity Announcements (FOAs), Ethical, Legal, and Social (ELSI) Implications of Genomic Research (PA-11-250, PA-11-251, and PA-11-249) encourages multidisciplinary research applications that identify, examine and address the ELSI of advances in genomic research and technology for individuals, families, communities and society more broadly.
The National Human Genome Research Institute (NHGRI) has identified four broad research priorities: 1) genomic research; 2) genomic health care; 3) broader societal issues; and 4) legal, regulatory and public policy issues.
Examples of topics related to genomic research in which further ELSI research is needed include:
- recruitment issues (including diversity in research participation);
- perceptions of risks and benefits by the public, research participants, researchers, and IRBs;
- issues in informed consent in genomic research (including unexpected results or results in which there are no interventions to offer)
- return of individual research findings (including incidental findings);
- privacy and identifiability of genomic information;
- data sharing and data security;
- governance structures for genomic repositories (including treatment of archived samples, such as newborn bloodspots);
- compensation to sample and data providers;
- fair distribution of benefits from research;
- third-party benefits and risks of genomic research (including effects on family members and broader communities);
- use of tissue and health data from deceased individuals in genomic research;
- role of community consultation and engagement; and
- the relationship between ancestral biomarkers and self-identified race and ethnicity and incorporation of these variables in genomic research.
Examples of topics related to genomic health care in which further ELSI research is needed include:
- fairness in the distribution of genomic and genetic services;
- assessment and evaluation of personalized genomic-based health care in terms of general effectiveness and comparative cost-effectiveness;
- issues in informed consent as related to genomically-based health care;
- issues surrounding the potential inclusion of genomic information in Electronic Health Records and Personal Health Records;
- communication of genomic information and test results in clinical settings;
- issues surrounding the use of pharmacogenomics and other genomics-based therapies, including reimbursement;
- issues in preimplantation and prenatal genomic diagnosis and other genomically-based reproductive technologies;
- understanding the contribution of genomic, psychosocial and cultural factors that may have a role in health disparities;
- communication of the relationship between ancestral biomarkers and self-identified race and ethnicity to individuals and families receiving genomically-based clinical test results.
Examples of topics related to the broader societal issues in which further ELSI research is needed include:
- normative factors underlying concepts of risk and benefit in genomic research and health care;
- ethical implications of the blurring of the distinction between genomic research and genomics-based health care;
- ethical issues relevant to genomic research and genomic health care involving special populations;
- implications of increasing genomic knowledge for how health and disease are conceptualized by individuals, health care providers and the health care industry;
- implications of genomic variation research (and of genetic ancestry testing) for understanding identity, race and ethnicity, and relationships within and among human populations;
- implications of learning more about epigenomics and the human microbiome for concepts of human identity, personhood, health and disease;
- implications of comparative genomic research and evidence of natural selection among human populations for understanding the relationships among humans, and between humans and non-humans, and the intersection of genomic knowledge with existing beliefs about evolution and human origins;
- implications of manifestations of genetic determinism, reductionism, essentialism, and exceptionalism in public attitudes and in public policy; and
- implications of genomic information for understandings of free will and individual responsibility.
Some specific examples of topics in this area in which further ELSI research is needed include:
- intellectual property issues;
- appropriate regulation of genetic testing, pharmacogenomics and genomics-based therapies;
- ownership and liability issues surrounding the secondary use of biobanked samples;
- genetic discrimination and stigmatization (including the impact of the Genetic Information Non-Discrimination Act); and
- non-medical uses of genomics in non-health care settings (e.g., criminal and civil courts; employment; schools; the military).