What is human genetic research?

13.5 Human genetic research is broadly defined in the National Statement as a process which

enhances our understanding of how genes and environmental factors interact to influence the health of individuals and populations and in doing so, generates knowledge with the potential to improve individual and community health.^[4]

13.6 Some human genetic research can be conducted without the need for genetic information that can be related to specific persons or communities. For example, research on molecular processes can explore genetic processes and the production of enzymes or proteins. Similarly, research can use anonymous population data to examine patterns of human inheritance of disease or conditions.

13.7 Unless otherwise indicated, this Report uses human genetic research to refer to any research that uses genetic samples or genetic information, whether or not those samples or information are identified, potentially identifiable, or de-identified.^[5] Such research must involve human genetics and does not include the use of human tissue samples in order to study, for example, the genetics of infectious agents such as viruses.

13.8 When discussing the protection of privacy interests in genetic samples and information, the chapters focus on human genetic research that needs to use or will develop information that is either identified or potentially identifiable. Privacy interests are not generally threatened where the identity of an individual is not apparent or cannot reasonably be ascertained from information.^[6]

13.9 However, ethical concerns may be raised by the collection or use of genetic samples and information in human research, even where the samples or information are de-identified. Basic ethical principles such as integrity and respect for persons^[7] should be observed even where samples or information are to be de-identified^[8] or where the research involves a collectivity. For example, one consequence of de-identification is that clinically relevant information produced by research cannot be related to participants or their families.^[9] On the other hand, some genetic disorders are so rare that families might identified from the disclosure of results in de-identified form.^[10]