4. Ethical characteristics and testing guidelines for each non-invasive research method
H. Research involving human genomes or gene analysis
Genome analysis or genetic analysis is a method that identifies genetic factors (genome sequences) associated with a disorder or physiological trait. This method is currently established as an extremely powerful research method through the development of various DNA markers, the deciphering of the human genome reference sequence through the Human Genome Project, and the HapMap Project. Moreover, technology has advanced to the stage that it will soon be possible to determine an individual’s whole genome sequence. Among studies that search for causes of disorders, this method has already been frequently and successfully used to examine mental and neuromuscular disorders. This method can be applied to investigate not only the deciphering of genetic causes and molecular mechanisms of disorders but also the genetic or molecular basis, of various physiological traits. Through studies that combine this method with physiological analysis or imaging, further insights can be expected in the deciphering of the brain nervous system.
Typical methods of genome or genetic analysis include an approach that is based on linkage analysis of family samples, and one that is based on association analysis, which compares a group with disorders or specific features against a control group without such disorders or features. While there are various DNA markers, a system of analysis is currently being established that uses a DNA chip equipped with single nucleotide polymorphism (SNP) markers, which cover the entire genome. This makes it relatively easy to carry out a genomic or genetic analysis from a technical point of view.
In practice, implementing studies that include analysis of human genome or genetic analysis must follow the “Ethical guidelines concerning research that involves human genome and genetic analysis (Ministry of Education, Culture, Sports, Science and Technology, Ministry of Health, Labor and Welfare, and Ministry of Economy, Trade and Industry; 29 March 2001 (Heisei 13), fully revised on 28 December 2004 (Heisei 16), partially revised on 29 June 2005 (Heisei 17))” (guidelines set by three ministries). In addition, research plans require the review and approval of an institutional review board or other appropriate committee relating to human genome and genetic analysis research established at each research institute. When it is necessary to assess matters other than those relating to human genome and genetic analysis research, each matter requires the committee’s review and approval.