## [13] Health Science

## Overview Appropriate Implementation of Human Genome/Genetic Analysis Studies

Medical studies involving analysis of the genetic information of humans can be expected to contribute to the identification of the causes of diseases and disease mechanisms, diagnosis/treatment/prevention that reflects the differences in individual physical constitutions (so-called tailor-made treatment), and the development of pharmaceuticals based on genomic information (so-called genomic drug discoveries). However, the genetic information obtained in the course of any such study can reveal the genetic predispositions of the providers and their blood relatives and thus lead to various ethical, legislative, or social problems if inappropriately handled. It is therefore necessary to ensure that any such studies are appropriately implemented with human dignity and human rights fully respected.

In order to promote the appropriate implementation of human genome/genetic analysis studies, therefore, the Ministry of Health, Labour and Welfare (MHLW), the Ministry of Education, Culture, Sports, Science and Technology (MECSST), and the Ministry of Economy, Trade and Industry (METI) jointly formulated and enforced “Ethical Guidelines for Human Genome and Genetic Analysis Research” in April 2001 as guidelines for researchers to observe. In addition, and for the purpose of responding to the smooth implementation of the Act on Protection of Personal Information (Act No. 57 of 2003) and progress made in research, the MHLW in cooperation with MECSST and METI revised the Guidelines in December 2004 from the point of view of protecting personal information by ensuring all the personal information protection measures prescribed for in the said Act, in principle, were included (MECSST/MHLW/METI Notification No. 1 of 2004). Furthermore, in consideration of the fact that genomic information can now be analyzed faster and easier and genome research styles are becoming more diverse with the recent progress made in human genome/genetic analysis technologies, a revision was also made in February 2013 (MECSST/MHLW/METI Notification No. 1 of 2013).

The Guidelines prescribe and request researchers and other relevant parties involved in human genome/genetic analysis studies to observe that informed consent shall be obtained in principle when conducting studies, any institutions involved in studies shall establish an Ethical Review Committee and ensure that the Committee reviews the research plan in advance and approves it, protection of personal information, including genetic information, shall be strictly implemented through on-site inspections by external experts, etc., and consideration shall be given to genetic diseases through implementing genetic consultations, etc.

## Appropriate Implementation of Clinical Trials on Gene Therapy

## Overview Appropriate Implementation of Clinical Trials on Gene Therapy

Gene therapy is a new medical technology that administers gene or gene-introduced cells into the human body to treat an illness and can be expected to be an innovative treatment method for serious hereditary diseases, cancer, other terminal diseases, and diseases that severely impair bodily functions. Many clinical trials on gene therapy have already taken place in a number of foreign countries.

For this reason the Ministry of Health, Labour and Welfare (MHLW) formulated “Guidelines for Gene Therapy Clinical Trials” in February 1994, and have been evaluating in a comprehensive manner the medical effectiveness and ethics of gene therapy clinical trials on terminal disease or diseases that severely impair bodily functions via the Committee on Science and Technology of Health Sciences Council. Considering that several years have elapsed since formulation of the Guidelines and that a number of trial cases have been accumulated during this period the Guidelines were revised (Ministry of Education, Culture, Sports, Science and Technology (MECSST)/MHLW Notification No. 1 of 2002) in thereby accelerating evaluation procedures by limiting trial plans that the said Committee evaluates as being of merely novelty value.

The first gene therapy clinical trial in Japan was on adenosine deaminase deficiency, which took place at Hokkaido University. To date 44 applications for clinical trial implementation plans to be evaluated have been made by potential implementing entities, with 40 of them having been determined to be appropriate after being discussed by the Committee on Science and Technology.

In addition, and for the purpose of responding to the smooth implementation of the Act on Protection of Personal Information (Act No. 57 of 2003), MHLW in cooperation with MECsST revised the Guidelines in December 2004 from the point of view of protecting personal information by ensuring all the personal information protection measures prescribed in the said Act, in principle, were included (MECSST/MHLW Notification No. 2 of 2004).

At present, and with the aim of reviewing the Guidelines, an Expert Committee has been established under the Committee on Science and Technology of the Health Sciences Council, and discussions being held.