Tokyo

Researchers working on human genetics in Japan will be required for the first time to obtain the informed consent of those providing samples, under draft ethics guidelines released by the Ministry of Health and Welfare last week.

But several leading geneticists have already criticized the guidelines as not doing enough to reassure research subjects that their genetic information will not be misused.

The guidelines are a response to a large project, funded by the ministry, to collect data on single nucleotide polymorphisms (SNPs), due to begin in April. They also follow newspaper articles criticizing various institutions for doing genetic research on human samples without the proper consent of those from whom they were obtained.

The guidelines apply only to research funded by the health ministry. If they are broken, the directors of the institute or hospital in question will be able to stop the project and confiscate its funding.

An ethics panel at the Council for Science and Technology is drawing up similar guidelines. The council advises the Science and Technology Agency — the main funding body for human-genome research in Japan.

Earlier this month, researchers at the National Cardiovascular Center in Osaka, the University of Kyushu, Fukuoka, and Tohoku University, Sendai, admitted that they have used thousands of blood samples for analysis without informing patients.

The revelations have prompted an intense media debate, and observers say that the scientists may have gone public in anticipation of the guidelines. These specify that it is up to institutional ethics boards to decide on the use of samples obtained in the past and without permission.

Scientists at Tohoku University, who halted a research project on the genetics of cerebral apoplexy last autumn to consult the university's ethics board and explain the situation to concerned patients, have declared that they intend to resume research in the next few weeks.

But critics of the guidelines argue that rules on informed consent will not convince patients that their privacy will be protected — particularly as Japan lacks data-protection laws.

“The focus is mainly on how to obtain and how to use human material,” says Yusuke Nakamura, who directs a large SNPs project at Tokyo University's Institute of Medical Science. “But it is unclear how to ensure the rights of patients, and how to deal with patients whose privacy has been violated, and who may be subject to various forms of genetic discrimination.”

Nakamura says that many patients are afraid to provide samples, following speculation that genetics research could lead to social discrimination. “Legal regulation, including penalties for those who do not comply, should be established as soon as possible,” he says.

Some observers fear that insufficient regulation could provoke further media criticism, making it harder to obtain human samples. The supply of these is hindered by a lack of links between scientists and clinicians.

“Much recent trouble concerning human samples has been caused by a lack of communication between medical doctors and researchers,” says Yoshihide Hayashizaki, who leads the Genome Exploration Research Group at RIKEN's Genomic Sciences Center.

Nobuyoshi Shimizu, who directs the Center for Genomic Medicine at the Keio University School of Medicine, says that it is “difficult to obtain fresh tissue samples”. He argues that national facilities are needed to prevent the commercialization of the supply of human tissue samples.

Guidelines for the use of human cells and tissues were published last year by an ethics panel at the Japan Tissue Culture Association, headed by Toshiharu Matsumura, a general manager at the Meiji Cell Technology Center. Matsumura sees them as a “first step” towards a regulatory framework.