Registry & biobank research
Research with registers
Often, researchers use personal registers, which can be an indespensable part of a research project. In longitudinal studies, the research is conducted over a longer time - up to thirty years is not uncommon - and aims at following things such as changes in health and social situation for certain population groups to, for example, learn about how certain work conditions affect us in the long term.
In Sweden, there are great opportunities for significant research involving registers. On the one hand, each individual has a unique personal identification number, on the other, we have for a long time run registers and archived data on people and their lives. Unfortunately, it is hard to get an overview over existant registers. However, the Swedish National Data Service help researchers gain access to existing data within and outside of Sweden. SND also provides support and guidance to researchers throughout the whole research process. Also the National Archives of Sweden and Statistics Sweden have extensive knowledge on what data are available.
To create registers
The collection of data for unspecified future research must in Sweden be allowed by a specific regulation, otherwise the demand is for a specific and particular purpose, as stated in the act on ethical review. The scope and sensitivity of these registers have implied that the government and parliament should maintain control over their creation. Today it is hardly possible to create large prospective databases or registers for unspecified future research purposes.
From 2013, a new act about health research on environmental and genetic causes of disease gives Swedish universities the possibility to create research registers as long as data providers give their explicit consent. Anonymised data can then be released from these registers for specific research projects, as long as they have been approved by an ethics review board (in the background is the unclear situation for the Lifegene project at Karolinska Institutet which was stopped by the Swedish Data Protection Authority).
For public authorities, there is according to the Archive law a common demand that they shall archive such data that is needed for later research to be possible. The Swedish registers relies on, for example, a law on official statistics (SFS 2001:99) and a law on health data registers (SFS 1998:543).
Getting the data
First, there is a need to know what data is collected and saved. In the act on official secrets it is stated that authorities must list and describe the registers they hold, so that the public can be aware of them and use them. The archives of such public authorities must also be documented.
Data collected by public authorities are often official and may therefore be considered public (the Swedish principle of public access to official records) when secrecy does not apply. There is no right to access data in registers or archives, the release shall always be accompanied by a test to see if the data can be disclosed without any harm to the persons who has provided the data. If not, secrecy might apply. To have gained an approval from the ethical review board is thus no guarantee that one will gain access to data. While the act on ethical review regulates what research might be performed, the Public Access to Information and Secrecy Act govern when data may be released and GDPR how data are used. These concepts are further defined and explained, as is the legal ground for using personal data in research, in the page on the handling of personal data.
As a researcher, one might be able to get data that have been partially deemed confidential (and thus only partly anonymized or released, for example) or the secrecy might be transferred from the releasing part to the researcher, that is, the data should be equally protected by the recieving part (this is the common case when a resercher is working in public organisations). When asking for a release of data, it is thus very important to be able to describe the protection given to personal data in the research project. For the Swedish national quality registries, there is a helpful Guide to their use.
Research on data from a living person will fall under the act on ethical review, GDPR, and associated rules and guidelines. Compared to invasive and risky research, the demand for getting informed consent is here somewhat lessened for research on registers. Instead of the extensive instructions in the act on ethical review, the GDPR states that information does not have to be given to participants in such researh if it is impossible to give or would be to cumbersome. If those criteria are present is decided by the ethical review board when trying the ethical review application. If the board so thinks, and also considers the research 'necessary' in accordance with EPL, a waiver for informed consent might be issued. On the other hand, then the demand for consent put forth in the Helsinki declaration might present a problem, which states basically the same criteria for a waiver ("where consent would be impossible or impracticable to obtain") but also that a waiver only can be issued "exceptionally".
For register or archive research on people no longer living, there is only ethical guidelines to advise. They are usually summarized in four principal demands; on giving information, on collecting consent, on keeping confidentiality and on restricting the use to the research purpose. When doing such research, one should ponder whether to inform and get authorization from relatives to the deseased.
The term biobanks refers to collections of biological material, for example blood or tissue samples. These samples' generally high quality in Sweden and the fact that samples can often be linked with information on the donor's health and diseases makes them very interesting in medical research.
Personal information on biobank donors in the register or in another form is not considered a part of the biobank itself. This information falls instead under the GDPR as well as other legislation regarding personal information and health-related data in the healthcare area. Note that genomic data now explicitly is considered sensitive and that sharing identifiable genomic data is a form of processing personal data, and as such would fall within the scope of data protection laws.
The Swedish regulations are descibed here by Biobank Sweden.
In 2003, the International Bioethics Committee (UNESCO) effected an International Declaration on Human Genetic Data. Then there is the Declaration of Taipei on Ethical Considerations regarding Health Databases and Biobanks by the World Medical Association. Further we have Guidelines on Human Biobanks and Genetic Research Databases by the OECD. In the International Ethical Guidelines for Health-related Research Involving Humans, by CIOMS, requirements for informed consent in epidemiological studies on biobank samples are discussed.
The human genetic code has received a great deal of attention since gene technology as a science emerged from Watson's and Crick's discovery of the structure of the DNA molecule (for which they received the 1962 Nobel Prize). Today, researchers have in principle mapped the entire set of human genes. With gene technology's rapid growth - and increasingly bold predictions concerning what can be accomplished with its help in the near future - a number of ethical issues have also appeared, concerning things such as ownership or patentability of genes and what gene technology means for people's private lives and integrity.
What is gene technology?
Gene technology is primarily a technology for mapping genes - humans' genetic makeup. Genes consist of a certain sequence of nucleotides (A, G, T, or C). Using this knowledge, we can further analyze hereditary diseases, change an organism's genetic makeup so that its characteristics are changed, and perform gene therapy (correcting or exchanging pathogenic genes in an individual). Another application of this knowledge is the possibility to match medicines directly to an individual's genome, his/her specific set of genes. For example, if 5% of a population does not react to a medicine it may be possible to find a gene common to this group that explains this, which can lead to the development of an effective treatment. In short, gene technology in the broadest sense entails using knowledge about the human genetic makeup and its functions to solve problems or manufacture products. In this wider conception, biotechnology concerns using qualities of cells or their parts in a technical context (SOU 2000:103). Biotechnology have a long succession of applications, e.g. computer technology, chemistry, materials development and the judicial system. This is a development of which we have yet only seen the beginning.
The fundamental regulations concerning genetically modified organisms can be found on this page run by the gene technology advisory board. Nordic regulation is further described in Legislation on Biotechnology in the Nordic Countries: - an overview 2019.
In Sweden, the government authority the Gene Technology Advisory Board has the tasks of following national and international development in the area of gene technology, monitoring ethical questions and, via its advisory position, promoting an ethically defensible and secure use of gene technology so that people's and animals' health and environment are protected. The board notifies the government if a field of application or planned use of gene technology is questionable from an ethical or humanitarian viewpoint.
Experiments on humans are regulated foremost by the The Genetic Integrity Act (SFS 2006:351), the main idea of which is that experiments on fertilized eggs are allowed during the first 14 days after fertilization. The eggs must then be destroyed. Most countries, including Sweden, (through laws or moratoria) do not allow research involving gamete therapy (by which the cells’ altered character would be inherited by future generations). More on law in the Nordic countries has been collected by the Nordic Committee on Bioethics.
Lately new techniques like CRISPR have caused concerns, as they enable gene editing with great precision. In an international meeting the following view was adopted: On Human Gene Editing: International Summit Statement. Then the report Human Genome Editing: Science, Ethics, and Governance was issued by The National Academies, US. Then came Genome Editing: Scientific opportunities, public interests, and policy options in the EU, by the European Academies' Science Advisory Council.
Finally, the Guidelines for Stem Cell Research and Clinical Translation from The International Society for Stem Cell Research have now become a standard for many journals in the field.
- Rätt att forska - Långsiktig reglering av forskningsdatabaser (SOU 2018:36)
- Homepage for Uppsala Biobank
- Framtidens biobanker - SOU 2018:4
- Human germline gene editing. Recommendations of ESHG and ESHRE
- Ethical Principles for the use of human cellular biotechnologies - a consensus statement