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German Project Considers Ethical, Legal Issues of Human Whole-Genome Sequencing


By Julia Karow

An interdisciplinary team of researchers in Heidelberg, Germany, is working on a position statement and guidelines regarding ethical and legal issues of human whole-genome sequencing, which it plans to publish later this year.

The project, called Ethical and Legal Aspects of Whole-Genome Sequencing, or EURAT, kicked off in March 2011 and currently involves 13 scholars from Heidelberg University, Heidelberg University Hospital, the German Cancer Research Center DKFZ, the European Molecular Biology Laboratory, the Max-Planck-Institute for Comparative Public Law and International Law, and the University of Hannover. Participants have expertise in human genetics, bioinformatics, genome sequencing, oncology, pathology and biobanking, constitutional law, health economics, ethics and theology, and comparative law.

EURAT is funded with €600,000 ($763,000) from the Marsilius Kolleg, a "Center for Advanced Study" at the University of Heidelberg that promotes dialog between the sciences and the humanities and sponsors interdisciplinary research projects.

According to Klaus Tanner, the project's speaker and a professor of theology at the University of Heidelberg, EURAT was initiated by researchers at DKFZ and Heidelberg Medical School who planned to start sequencing patients and felt the need for regulatory guidance. Providing such guidance, which the group hopes can be used both in Heidelberg and elsewhere, is the main goal of the project.

EURAT is tackling a number of topics, including informed consent, incidental findings and what to report back, genetic counseling and risk prediction, data security, and the costs of whole-genome sequencing to the health system. Most of these are not new, and not unique to whole-genome sequencing, but the large amount of data generated by the technology "creates a new quality," Tanner said.

For example, incidental findings also come up with other medical tests, "but now with the technique of sequencing, you are sure that you will get incidental findings, and that you will get a lot of them, and that is something new," he said.

Around informed consent, the project is considering questions such as whether to give a blanket consent or offer patients alternatives, who will have to recontact whom, and in how far withdrawal from a study is still possible once data has been generated. This will involve some empirical research, such as questionnaires. "It's a lot of practical details to make the big idea of protecting the human being workable," according to Tanner.

Project participants are also studying existing guidelines, for example those established by the International Cancer Genome Consortium, and trying to identify aspects that could be improved, for example in reporting information to patients, or that need to be adapted to the local situation in Heidelberg. The PedBrain project, for example, an ongoing ICGC project at Heidelberg that focuses on pediatric brain cancers (CSN 12/7/2011), needs to consider the fact that the patients are minors who need special protection.

EURAT is also considering differences between legislations and legal cultures. Article 1 of the German constitution, for example, provides absolute protection of human dignity. "Can someone, under this rule, waive his right to informed consent? … Some say this is not possible under German law," Tanner explained, whereas in other legal traditions, "the idea [that] you make a contract and you can balance risks and benefits is stronger."

German law also provides strong protection of personal data, which is not the case to the same extent in other countries, he said.

Another issue EURAT is considering is the ethical obligations to patients of researchers who are not doctors. While these obligations are clearly defined for doctors, they are less clear for scientists who manage and analyze patient sequence data, "who are far away from the patient but very important for them," Tanner said. EURAT's goal is to develop a "code of conduct" for these groups, along the lines of what bioengineers have already developed for their own profession.

One of the challenges the group has encountered is how to exchange ideas between different areas of expertise, he said, noting that this takes "a lot of communication." Also, he said, there has been a "classical conflict" between researchers wanting to bring the new technology to patients as quickly as possible, and doctors wanting to evaluate the new approach first.

EURAT also plans to exchange ideas with other groups who are considering the ethical, legal, and social issues of whole-genome sequencing. It is already collaborating with Bartha Knoppers, director of the Centre of Genomics and Policy at McGill University, and plans to invite US scholars to a conference in Heidelberg in March.

In the US, the National Institutes of Health recently awarded $48 million to five centers under a Clinical Sequencing Exploratory Research Project program, which will also study ethical implications of clinical sequencing (CSN 12/7/2011).

Have topics you'd like to see covered in Clinical Sequencing News? Contact the editor at jkarow [at] genomeweb [.] com.