Ethical, Legal and Social Implications (ELSI) Research

Ethical, Legal and Social Implications (ELSI) Research

Goals and Related Research Questions and Education Activities for the Next Five Years of the U.S. Human Genome Project

This document was prepared by the ELSI Research Planning and Evaluation Group (ERPEG) to illustrate more fully the breadth and complexity of the ELSI goals. Each goal statement is accompanied by examples of possible research questions and education activities. These examples are meant only to give a flavor of the possible issues to be addressed, and are not, in any sense, exhaustive or comprehensive.

1. Examine the issues surrounding the completion of the human DNA sequence and the study of human genetic variation.

Examples of Research Questions and Education Activities:

• What strategies should be used to balance the needs for privacy and safety of individuals and groups with the scientific goals of creating resources for DNA sequencing and human variation research? (e.g. How should research participants be informed about the fact that they may not be able to remain anonymous given the availability of their DNA sequence?)
  
  
• Will the discovery of DNA polymorphisms influence current concepts of race and ethnicity? (e.g. How will individuals and groups respond to potential challenges to or affirmations of their racial and/or ethnic self-identification, based on new genetic information?)
  
  
• What new concerns are being raised by the commercialization and patenting of DNA sequence information in the public, academic and private sectors? (e.g. What are the implications of domestic and international policies for the ownership of DNA sequence information?)
  
  
• What are the most effective strategies for educating health professionals, policy makers, the media, students, and the public regarding the interpretation and use of information about genetic variation?

2. Examine issues raised by the integration of genetic technologies and information into health care and public health activities.

Examples of Research Questions and Education Activities:

• What are the clinical and societal implications of identifying common polymorphisms that predict disease susceptibility or resistance? (e.g. Will genetic testing promote risky behavior in persons found to be genetically resistant to particular pathogens, such as HIV, or environmental hazards, such as cigarette smoke?)
  
  
• What are the potential risks and benefits of integrating genetic testing for complex diseases, behaviors, and other traits into health care? (e.g. What are the individual and social implications of developing pharmacologic treatments that are tailored to patients' genotypes?)
  
  
• What are the most effective strategies for integrating genetic information and technologies into clinical settings in ways that help practitioners see health and disease in a genetic context and what will be the ethical, legal and social consequences of their increasing availability and use? (e.g. How will individuals be benefited or harmed by the integration of genetic information into individual medical records, managed care organization records, and public health registries?)
  
  
• Will the availability of genetic information influence provider practice, change patient behavior, reduce morbidity and mortality and/or reduce health care costs?
  
  
• What factors influence: who develops and regulates new reproductive genetic technologies; which technologies are incorporated into medical practice; and which technologies are accepted or rejected by the public? (e.g. What issues may arise as a result of the development and use of germ-line gene therapies? How might the availability of these therapies affect concepts of disability?)
  
  
• What are the best strategies for educating health care providers, patients and the general public about the use of genetic information and technologies? (e.g. What are the most effective mechanisms for educating providers, patients and the public about the uncertainties inherent in genetic risk information?)

3. Examine issues raised by the integration of knowledge about genomics and gene- environment interactions into non-clinical settings.

Examples of Research Questions and Education Activities:

• What are appropriate and inappropriate uses of genetic testing in the employment setting? (e.g. Are there conditions under which it might be ethical and/or legal to use genetic testing to identify those employees who may have a susceptibility to workplace hazards? What implications does the Americans with Disabilities Act have for such testing?)
  
  
• What issues emerge from the collection, storage and use of blood and other tissue samples, including collections by the military, civil and criminal justice systems, commercial entities, and federal and state public health agencies?
  
  
• What are the implications of obtaining genetic information for use in adoption proceedings and establishment of child custody and child support?
  
  
• What are the implications of potential commercial applications resulting from the availability of genetic information about individuals and groups? (e.g. Should commercial companies have access to personal genetic data for targeted product marketing?)
  
  
• What are the potential uses and abuses of genetic information in educational settings? (e.g. Is placement of students on the basis of genetic data any more or less beneficial or harmful than tracking on the basis of traditional categories or classifications?)

4. Explore ways in which new genetic knowledge may interact with a variety of philosophical, theological, and ethical perspectives.

Examples of Research Questions and Education Activities:

• Will continuing research in molecular biology and functional genomics affect how individuals and society view the relationship of humans to one another and to the rest of the living world? (e.g. As new genetic technologies and information provide additional support for the central role of evolution in shaping the human species, how will society accommodate the challenges that this may pose to traditional religious and cultural views of humanity?)
  
  
• What are the implications of behavioral genetics for traditional notions of personal, social and legal responsibility? (e.g. What role will the discovery of putative genetic predispositions to violent behavior play in criminal prosecutions?)
  
  
• What are the implications of genetic enhancement technologies for conceptions of humanity? (e.g. What ethical or theological challenges might be posed by the ability to alter the genetic makeup of future generations?)

5. Explore how socioeconomic factors, gender, and concepts of race and ethnicity influence the use and interpretation of genetic information, the utilization of genetic services and the development of policy.

Examples of Research Questions and Education Activities:

• How are individual views about the value of genetic research, the importance of access to genetic services, and the meaning and relevance of genetic information affected by concepts of race and ethnicity and by socioeconomic factors? (e.g. How have past misuses of genetic science and information influenced perceptions of genetic research and services among individuals from diverse communities and groups?)
  
  
• How is the impact of genetic testing in clinical and non-clinical settings affected by concepts of race and ethnicity and other social or economic factors? (e.g. Will particular communities and groups be more vulnerable to employment discrimination based on genotype?)
  
  
• In what ways are access to, and use of, genetic information and services affected by ethnicity, race or socioeconomic status?
  
  
• What are the most effective strategies to ensure that genetic counseling and other genetic services are culturally sensitive and relevant?

Last Reviewed: February 27, 2012