ELSI Issues Related to Genomic Research on Behavior
CIRGE was established in 2004 at Stanford University as a Center for Excellence in Ethical, Legal and Social Implications (ELSI) Research. The original goals of CIRGE were the proactive identification and integration of ethical, legal and social considerations into the design and conduct of current and emerging genetic research. CIRGE’s original aims were achieved through tightly linked programs of research, education, consultation and training.
The aims of CIRGE during project period 2004 - 2010 were to:
- Conduct interdisciplinary ELSI research that informs policy on the conduct and translation of research on the genomics of behavior;
- Develop a new mechanism for integrating ethics, policy and research on the genomics of behavior by linking the process of research on the genomics of behavior with the ELSI research and policy agendas;
- Train interdisciplinary ELSI researchers who are fluent in genomics, ethics and policy.
For the upcoming years of CIRGE (2010 - 2015), CIRGE’s goals have advanced in three important ways:
- By introducing an integrative approach for establishing concrete linkages between ELSI research, policy and genomic research on behavior, using a constructive technology assessment as a conceptual framework. This approach is complementary to, but distinct from the Benchside Ethics Consultation Service we established in the previous funding period;
- By using this new approach to identify ELSI issues, to prioritize and coordinate ELSI research projects to inform policy and facilitate translation of genomic research, and;
- By expanding the training program to include pre-doctoral fellows.
To achieve these new goals, CIRGE will implement a new program, the Integrating Values and Ethics in Science and Technology (INVEST) Forum, based on the concept of constructive technology assessment (CTA) (Reference 1). The premise of CTA is that the implications of scientific research and development are not only a function of characteristics of technology, but of the interaction between science and its social and moral context (Reference 1).
CIRGE’s innovation will be in developing a process for developing coordinated ELSI research agendas around specific focus areas in genomic research, and for translating the ELSI research findings into design features of genomic research and technology, as well as using ELSI research to inform policy. Our role will be to translate ELSI research not only in the sense of informing or developing health, research or social policy, but to translate the currency of values and ethics into the currency of scientific research.
CIRGE will serve as an intermediary between stakeholders and end-users of the research on the genomics of behavior, the scientists who conduct that research, and the ELSI research community. We will create a forum for integrating ethical and social considerations into specific areas of genomic research through 1) “prognostic” normative analyses that identify the values, principles and assumptions that are implicated by research and technology and its application 2) empirical analysis to map relevant genomic research and technology and identify stakeholders, 3) empirical analysis to assess relevant features of the ethical, legal or social context, such as how different stakeholders think genome information or technology will be used, should be used, perceived, or who it might benefit or harm, 4) “diagnostic” normative analyses to assess whether and how genomic research and technology supports or undermines stakeholder values, and 5) feeding back normative and empirical ELSI findings into research and development priorities, design criteria or requirements.
These feedback processes can inform the design and application of genome research in a way that enhances benefit and utility to end-users and therefore facilitate translation, in the sense of conversion of technological developments and basic research findings into clinical and non-medical uses.
THEMATIC FOCUS – GENOMICS OF BEHAVIOR
CIRGE’s goal is to anticipate and address important emerging and persistent ELSI issues related to genomic research on behavior, recognizing that the research environment is in a period of rapid flux. Researchers are entering the post-Mendelian period of genetic understanding, but clinicians, patients, the general public, regulations, and institutions are still largely based on Mendelian paradigms. Genomic technologies are rapidly evolving and converging with information, imaging, and other technologies, enabling myriad new applications to medicine, law, genealogy, and other realms. The social context in which genome research is being conducted and that shapes both research and application of technology is also shifting. Boundaries to which we had become accustomed have eroded – distinctions among research, clinical and commercial activities, and the role of lay and expert people in research are blurred. The growth of commercial entities is changing the way that individuals access genomic technologies and how they participate in research.
The ELSI issues in genomic research are particularly acute for conditions related to behavior, broadly defined, for several reasons. First, behavioral traits are still subject to stigma and discrimination but are of great interest to individuals and institutions to the extent that they are relevant to important decisions about personal conduct, marriage, reproduction, education, employment, and legal decisions. Second, many behavioral traits currently under study, such as novelty seeking or anti-social behavior, fall on the border of, or outside the ambit of medicine. However, with the advent of whole genome sequencing and greater understanding of pleiotropy, non-clinical information will increasingly be implicated by genetic tests obtained for medical or health purposes. Thus, the ethical and regulatory frameworks established for genetic research and clinical genetic testing may no longer apply and new frameworks need to be developed (Reference 2). Third, the genomics of behavior is necessarily [instead: typically involves] the study of very complex traits that are often subject to changing and inexact definitions. Thus the interpretation of scientific findings will be uncertain and the practical significance unclear for long after the research is conducted. Fourth, behaviors played a central role in the history of eugenics and genetic research in the US and internationally, and while the disastrous policies that followed the eugenics movement in the last century are unlikely to be replicated today, it is also clear that some of the pernicious ideas about the implications of eugenic research that were refuted by scientists and policy-makers decades ago persist.
Therefore, CIRGE will continue its focus on the issues raised by research on the genetics and genomics of behavior and its translation to medical and non-medical applications. We define behavior broadly to include the full “disease” to “normal” spectrum: e.g., psychiatric illness, behavioral conditions, cognitive abilities, personality traits and emotionality, including traits currently under study such as risk taking, parenting, voting behavior, altruism, aggression or anti-social behavior.
The theme of CIRGE focuses on the National Human Genome Research Institute’s Grand Challenge III-3: to “understand the consequences of uncovering the genomic contributions to human traits and behaviours”, as articulated in “A Vision for the Future of Genomics Research” by Collins et al (Reference 3). As the distinctions between research, clinical and commercial activities are rapidly dissolving, CIRGE will also address ELSI issues raised in the translation of genomic research to clinical, legal, and social settings, including Grand Challenge II-5 to “investigate how genetic risk information is conveyed in clinical settings” and Grand Challenge III-1, to “develop policy options for the uses of genomics in medical and non-medical settings.
Our aims are synergistically linked, such that the achievement of each is necessary to accomplish the individual and integrated goals. Through the successful achievement of these aims, CIRGE will 1) advance our understanding of how the changes in genomic technology and in the social context of research introduce new ELSI issues; 2) facilitate the development of institutional, professional, and public policy in the conduct of genomic research on behavior and the clinical and non-medical applications of genomic research on behavior, with the goal of maximizing public benefit and minimizing harms while facilitating genomic research; and 3) serve as a model for engaging scientists in integrating ethical, legal and societal issues in the design and conduct of genomic research of behavior. CIRGE will create a forum to promote interactions and sustained relationships between representatives of the ELSI research community and stakeholders in genomic research of behavior, including geneticists, technology developers, clinicians, patients, lawyers and judges.
1. Schot J. and A. Rip. The past and future of constructive technology assessment. Technol Forecast Soc Change, 1997. 54(2): 251-68(18)
2. Magnus D., Cho M.K. and R. Cook-Deegan. Direct-to-consumer genetic tests: beyond medical regulation? Genome Med, 2009. 1:17.
3. Collins, F., et al. A Vision for the Future of Genomics Research. Nature, 2003. 422, 835-47