Excerpt

This report examines the scientific merits and value of research on human genetic or genomic variation and the organizational, policy, and ethical issues that such research poses in a more-general context than the proposed HGDP (Human Genome Diversity Project). Chapter 2 discusses the scientific basis and usefulness of a worldwide systematic survey of human genetic variation. Chapters 3 and 4 address technical and logistical problems posed by such a project with respect to sampling design, obtaining and maintaining sufficient genetic material, access to research materials and information, and data handling. Chapter 5 examines ethical, legal, and social issues. Chapter 6 treats the organization of the project and research priorities.

Contents

• The National Academies
• COMMITTEE ON HUMAN GENOME DIVERSITY
• BOARD ON BIOLOGY
• COMMISSION ON LIFE SCIENCES
• Preface
• Executive Summary
  • Sampling Issues
  • Sample Collection And Data Management
  • Human Rights Considerations
  • Organization And Management
• 1. Introduction and Background
  • The Committee, Its Charge, And Its Activities
  • The Proposed Human Genome Diversity Project
  • This Report
• 2. Scientific and Medical Value of Research on Human Genetic Variation
  • Human History And Evolution
  • Basic Mechanisms of Genome Evolution
  • Biomedical Applications
  • Conclusions
• 3. Sampling Issues
  • Basic Sampling Strategies
  • Strategies That Are Not Population Based
  • Strategies That Are Population Based
  • Which Sampling Strategy Should Be Used?
  • How To Select Which Human Populations To Sample
  • Considerations In Choosing Subject Populations
  • Number Of Populations To Sample, And Number Of People To Sample In A Population
  • Summary And Conclusions
• 4. Sample Collection and Data Management
  • Sources Of DNA To Be Sampled
  • Characterization Of Genetic Variation
  • Classes Of DNA Markers
  • DNA Polymorphisms Based On Single Nucleotide Substitutions
  • Should There Be A Core Set Of DNA Markers That Will Be Scored For All Samples In The Repository?
  • Research-Materials Management
  • Data Management
  • Functional Requirements For Human Genetic Variation Data
  • Data Acquisition Methods
  • Quality Control And Annotation
  • Communication Via Public Networks
  • Archival Storage
  • Distribution And Access
  • Security Issues Related To Human Genetic Variation Data
  • Summary And Conclusions
• 5. Human Rights and Human Genetic-Variation Research
  • Content Of Concerns About Studying Human Genetic Variation
  • Ethical Considerations In The Design Of Human Genetic-Variation Research
  • Control
  • Commercialization And Reciprocity Agreements
  • Conclusion
• 6. Organizational and Other Issues
• References
• Appendix A Committee on Human Genome Diversity: Biographical Information
• Appendix B Acknowledgments

This study by the National Research Council's Commission on Life Sciences was sponsored by the National Institutes of Health and the National Science Foundation under contract no. N01-OD-4-2139.

Points of view in this document are those of the authors and do not necessarily represent the official position of the sponsoring agencies.

NOTICE: The project that is the subject of this report was approved by the Governing Board of the National Research Council, whose members are drawn from the councils of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine. The members of the committee responsible for the report were chosen for their special competences and with regard for appropriate balance. In preparing its report, the committee invited people with different perspectives to present their views. Such invitation does not imply endorsement of those views.