Privacy versus public interest in developing human genetic databases

- Baoqi Su and Darryl Macer,
Graduate School of Life and Environmental Sciences,
University of Tsukuba, Tsukuba Science City 305-8572, Japan

Eubios Journal of Asian and International Bioethics 14 (2004), 82-5.

The issue of large-scale, population based DNA collections has become a world-wide discussion, which is hoped to bring substantial improvements in medicine. Continuous access to clinical data linked to the genetic samples is very important for some research that aims to find significant association between genes and diseases. This raises ethical issues related to privacy and confidentiality of medical records and the genetic information of the individuals who may be involved in the research. Genetic databases can also raise challenges for the protection of the rights of the social groups, in avoiding potential stigmatization or discrimination. Informed consent of voluntary participants is another important issue in genetic research.
We consider whether a person has ethical duties to donate a sample to a database if it will be used for the improvement of the health services to which they have benefited from. The balance between individual's privacy and public health is needed in genetic research. A good database will contribute to the good of both donors and society.
Keywords: genetic database, genetic research, privacy, beneficence, solidarity, public health, public interest, informed consent.

Human genetic databases
The issue of large-scale, population based collections of DNA samples has become a topic of world-wide discussion. They are expected to bring about substantial improvements in medicine as well as in biological research and biotechnology. The genetic databases containing human genotyping information will be most useful to individuals if they are linked to the individual's medical information. Continuous access to clinical data linked to the genetic samples is very important for many types of research, such as those aiming to find significant association between genes and diseases (e.g. cardiovascular diseases, diabetes, asthma, neurological diseases and cancers).
However, the creation of genetic databases that involve large populations can be highly controversial, as illustrated by the experience in Iceland (Chadwick, 1999). It raises ethical issues related to privacy and confidentiality of medical records and the genetic information of the individuals who may be involved in the research. Genetic databases can also raise challenges for the protection of the rights of the social groups, in avoiding potential stigmatization or discrimination. Informed consent of voluntary participants is another very important issue in genetic research.

Respect for privacy
Some genetic information, such as the color of our eyes and hair is easy to see from looking at a person, and cannot be kept secret. But other personal genetic information, such as risk for developing a health disorder late in life, may have a much more private character. People do not expect such information to be disclosed because they feel that these types of information are too personal. Who owns and controls personal genetic information? Who has a right to know the results of a genetic test? The ethical principle of privacy has set limits on who can have access to personal genetic information, and how should it be used.
Respect for an individual's genetic privacy requires us to be sensitive to the special role that genetic identity has come to play in their lives. The effects on a person of being informed that he or she would suffer a genetic disorder can be seriously harmful. It may change their ways of thinking of themselves, and change decisions about matters such as marriage, childbearing, and other lifestyle choices. Moreover, genetic information is not only about an individual, but also involves that individual's family.
Internationally the UNESCO "Universal Declaration on the Human Genome and Human Rights" (1997), includes the following general advice in some articles, for example:
"Article 7: Genetic data associated with an identifiable person and stored or processed for the purposes of research or any other purpose must be held confidential in the conditions set by law.
Article 10: No research or research applications concerning the human genome, in particular in the fields of biology, genetics and medicine, should prevail over respect for the human rights, fundamental freedoms and human dignity of individuals or, where applicable, of groups of people."
The issues of gathering, storage and use of genetic data were judged to be of such importance that UNESCO (2003) released a complete "Declaration on the Protection of Genetic Information", approved by UNESCO General Conference in 2003.
The HUGO Ethics Committee Statement on Genetic Databases (December, 2002) also put forward some recommendations on privacy and human rights as follows:
"4. The choices and privacy of individuals, families and communities should be respected.
- Choices may be with regard to: donation, storage and uses of samples and the information derived therefrom. (e.g. specific, related or other uses subject to authorization by an ethics committee, etc.). Informed consent may include notification of uses (actual or future), or opting out, or, in some cases, blanket consent.
- Mechanisms should be established to ensure respect for such choices.
- Participants should be informed of the degree of identifiability of their data (e.g. coded, anonymized, aggregate, etc.) and of the security mechanisms in place to ensure confidentiality.
- Participants should be told that samples or the information derived therefrom may be shared with other researchers including those from other countries, with commercial entities and through publication and availability on the WEB.
5. Individuals, families and communities should be protected from discrimination and stigmatization.
- Prior consideration should be given to the possible negative socio-economic effects, if any, of the collection, sharing, and publishing of the data.
- This consideration should include an assessment of both benefits and risks, as well as strategies for the management thereof. "
Respect for privacy is fundamental. However, we could ask whether a person has ethical duties to donate a sample to a database if it will be used for the improvement of the health services to which they have benefited from (Macer, 2003). The ethical principle of beneficence, loving good (Macer, 1998), requires us to develop ways to help others. We have duties to other members of a society. Scholars have argued for the concept of genetic solidarity and altruism (Chadwick & Berg, 2001; Macer, 2003). In this sense, we could argue that there is a duty of all persons to contribute to the advancement of genetics, which might help those suffering from disease and provide valuable treatments to help future generations.

Duties to contribute to genetic databases
Firstly, Let us look back to the history of the prominent medical advancement in public health, and see how people have benefited from it. Smallpox is estimated to have killed more people than any other disease in history, nearly 300 million people in the 20th century only. The mortality rate for smallpox is approximately 30% (Lofquist et al., 2003). The smallpox vaccine, created by Dr. Edward Jenner in 1796, successfully combated smallpox and eventually led to the complete eradication of this disease in the late 20th century. The polio vaccine also stopped the progress of the certain disease, which terrified the world in the mid-20th century. Today we have developed many vaccines against many deadly infectious diseases, particularly against deadly childhood diseases. Penicillin was the first antibiotic that was effectively used in treating bacterial infections. Before its development, many people suffered and died from bacterial infections that are no longer considered dangerous for now at all, for example, just cutting a little finger of you could eventually lead to death. Today antibiotics are widely available in our daily lives. Medical advancement had other origins as well, accompanying an increasing emphasis on public health and preventive medicine. All persons have benefited in some way from public health measures and medical research.
Secondly, we will examine whether and how the early genetic registers have benefited individuals, families and societies. In 1970s, genetic registers were established in many countries. The aims of the early genetic registers were to identify members of families who are at significantly risk of developing an inherited disorder or of having affected children, and provide services such as genetic counseling. In this sense, genetic registers have the great impact on the prevalence of disorders that are serious and relatively common, for which the risk to families is high, for which prevention and/or improved outcome are possible as a result of surveillance, and for which there are reproductive choices which will enable couples to avoid the occurrence of severe genetic disorders in their children (National Health and Medical Research Council, 1999).
Until now most genetic registers have focused on disorders caused by mutations of a single gene, such as PKU, Sickle cell, and Huntington's disease (HD), which follow the laws of Mendelian genetics. Registers have also addressed heritable chromosome abnormalities, and disorders which have a multifactorial basis and result from interaction between variations in more than one gene and environmental factors (National Health and Medical Research Council, 1999). With the development of the genetic registers, health professionals have been able to provide more appropriate information of how the registers could benefit registrants, reduce the burden of the individuals, families and societies, and balance the financial costs and benefits. Even though there is awareness among professionals and general public that genetic information could be misused, there can be no doubt that when interactions between genes and environmental factors become clearer, and when effective prevention approaches become more available, the potential value of developing the genetic registers for these disorders will become more significant.
Thirdly, let us consider seriously the ethical principle of beneficence, which requires us to develop ways to help others. In ordinary English, the term beneficence connotes acts of mercy, kindness, and charity. Forms of beneficence also typically include altruism, love, and humanity. Principle of beneficence refers to a moral obligation to act for the benefit of others (Beauchamp & Childress, 2001). If we consider beneficent action more broadly, it includes all forms of action intended to benefit other persons in the society. Many people may hold that it is obligatory to do no harm toward others, but it is not obligatory to act beneficently toward other persons. However, it is argued that the requirement to benefit may be overriding if we can produce a major benefit by causing a minor harm for only a few. For example, many public health programs, such as vaccinations, may cause harm to a certain percentage of the population, while providing a major benefit to other parts of the population (Beauchamp & Childress, 2001).
A genomic database, was defined in the 2002 statement of the HUGO Ethics Committee as: "a collection of data arranged in a systematic way so as to be searchable. Genomic data can include inter alia, nucleic acid and protein sequence variants (including neutral polymorphisms, susceptibility alleles to various phenotypes, pathogenic mutations), and polymorphic haplotypes. The work associated with a database includes collecting, annotating, curating, storing, validating and preparing specific sets for transmission" (HUGO, 2002). The completed Human Genome Project (HGP) and various genetic data have proven that genetic databases can aid clinical diagnosis and research for not only genetics but other areas in public health. There is a public interest in conducting research into diseases where little or inadequate information is available (Editorials, 2000). To understand the genetic basis of common human diseases, such as cardiovascular diseases, diabetes, and cancers, is likely to have a significant impact on public health and obtains enormous potentials for pharmaceutical and other therapeutic modalities. Although genetic databases have given rise to considerable debates about their potential harms and abuses, their promising benefits to all people of better medicines, less sufferings, and more enjoyable lives have been recognized by the public gradually.
Macer argued in his paper "Do the ethical duties of donor, and administrators, depend on whether the database is public or private?", that there is no person on the planet earth who does not benefit in some way from the advancement of technology by their forefathers, and most from the contributions of technology made through the global endeavor known as science (Macer, 2003). The pursuit of science has been a universally agreed goal, as explained in the UNESCO Charter. Despite the problems which technology has brought, there are inarguably benefits to all from the development of science and knowledge. Moreover, it is unrealistic to say that we can free ourselves of a broad range of indebtedness to our parents, teachers, to researchers in public health, and to social institutes such as schools. We benefit from the actions of others, so that we have duties to contribute to the benefits of other persons; we receive the benefits of society, and therefore we should to promote its interest too.
The Declaration of Helsinki, Ethical Principles for Medical Research Involving Human Subjects (World Medical Association, 2000), provides some principles with respect to the individual's rights, namely:
"5. In medical research on human subjects, considerations related to the well-being of the human subject should take precedence over the interests of science and society.
22. In any research on human beings, each potential subject must be adequately informed of the aims, methods, sources of funding, any possible conflicts of interest, institutional affiliations of the researcher, the anticipated benefits and potential risks of the study and the discomfort it may entail. The subject should be informed of the right to abstain from participation in the study or to withdraw consent to participate at any time without reprisal. After ensuring that the subject has understood the information, the physician should then obtain the subject's freely-given informed consent, preferably in writing. If the consent cannot be obtained in writing, the non-written consent must be formally documented and witnessed."
The goodwill of the above principles is to promote the health and protect the rights of the people, which should be followed by all health professionals and others. However, like Chadwick and Berg (2001 )have observed in their paper "Solidarity and equity: new ethical frameworks for genetic databases" that in recent years, there has been a very strong emphasis on the individual's rights. We could argue that even if refusing to participate in genetic research or refusing to have health information recorded in medical or genetic database can be reasonable, for a person to withdraw consent to participate at any time and to demand that his or her sample is given back, regardless of the damages to research may not be ethical. Although the principle regulates that the subject should be informed of the right to abstain from participation in the study or to withdraw consent to participate at any time without reprisal, the question arises as to whether such a right should be overriding, in particular when it is clear that the study could bring the benefits to others in society. The goal of the study is to improve health (RMGA, 2002).
In the case of some genetic databases samples cannot be withdrawn if they are made anonymously, as was the case in the Japanese samples collected for the HapMap project (Macer, 2003b). There is still debate over the extent of anonymization of data and the duty to feedback medically useful knowledge to donors of material. There could be abuses in certain communities if local regulations were the only means of protecting data. International regulations would provide more protection in some cases, especially for countries that do not have their own regulatory system. There may also need to be an international system as genetic databases are increasingly accessed from researchers in many countries. This is true of private and public databases. Some multinational companies also attempt to streamline their research by gathering all the genetic samples in one location, which raises questions over the export of genetic samples from donor countries.
The donors may also be offered indirect benefits for donation. We could ask whether donors should be offered some discount in the fees for entry to the health system, or a priority in receiving services, as is seen in some countries for blood donors. Do these duties also apply to the family or the ethnic group, and for how long?
We can ethically argue that persons have a duty to contribute to medical or genetic research that could benefit the health of others without bringing harms to oneselves. Although medical privacy is a fundamental value, it is not an absolute (Bayer & Fairchild, 2002). Moreover, there is usually no direct benefit to the participants such as sample donors in a study, but only the future promises of the research results. However, we maintain that the people, who are devoid of certain benefit from participating, could not escape the obligations to act beneficently to others.
Finally, let us review some international guidelines on the genetic research with focusing on the public interest and benefit sharing, which may help us to further understand and remember our duties to contribute to genetic research. The UNESCO "Universal Declaration on the Human Genome and Human Rights" (1997), makes it clear that the human genome, in a symbolic sense, is the heritage of humanity:
"1. The human genome underlies the fundamental unity of all members of the human family, as well as the recognition of their inherent dignity and diversity. In a symbolic sense, it is the heritage of humanity.
12. a) Benefits from advances in biology, genetics and medicine, concerning the human genome, shall be made available to all, with due regard for the dignity and human rights of each individual.
b) Freedom of research, which is necessary for the progress of knowledge, is part of freedom of thought. The applications of research, including applications in biology, genetics and medicine, concerning the human genome, shall seek to offer relief from suffering and improve the health of individuals and humankind as a whole."
The HUGO Ethics Committee Statement on Genomic Databases (December, 2002), addresses the following recommendations, which are essential in several respects in conducting genetic databases:
"1. Human genomic databases are global public goods.
- Knowledge useful to human health belongs to humanity.
- Human genomic databases are a public resource.
- All humans should share in and have access to the benefits of databases.
2. Individuals, families, communities, commercial entities, institutions and governments should foster the public good.
- Public engagement is a prerequisite of public responsibility
- Access to social goods such as medical care, education and a decent standard of living will foster such responsibility.
3. The free flow of data and the fair and equitable distribution of benefits from research using databases should be encouraged.
- Insofar as it benefits humanity, the free flow, access, and exchange of data are essential. Cooperation and coordination between industrialized and developing countries should be facilitated.
- Repositories should be established and funded to ensure the continuation of publicly available databases.
- Compatibility should be fostered through the use of common nomenclature, and, where possible, the pooling of databases should be encouraged.
- There is a scientific responsibility to ensure the professional competence of researchers working with data, as well as the quality and accuracy of the data.
6. Researchers, institutions, and commercial entities have a right to a fair return for intellectual and financial contributions to databases.
- There should be reciprocity and exchange of information with fair return.
- There are various mechanisms available for fair returns, for example, non-exclusive licenses, copyright, monetary, non-monetary (e.g. publication or credits), database pools, and central repositories.
- Any fees should not restrict the free flow of scientific information and equitable access."

We have argued that respect for personal genetic privacy is fundamental, but not absolute in developing genetic databases. Genetic research has the potential to lead to major medical advances within the coming years against diseases as malaria, cancers and HIV or AIDS around the world, which all people could benefit from. To protect of public interest may require some restrictions on privacy. It could be questioned whether an individual should be free, once has agreed to participate in a study, to withdraw consent at any time, without considering the harms to research. Some genetic diseases are very rare, so the only way for researchers to obtain knowledge and for patients or their children to receive possible treatments is to have individuals or families who are suffering of these diseases participate in research. However, if they all denied, there would be no way to achieve the goals. Moreover, family members share genes, community members may suffer a certain disease, in this sense there are moral obligations in favor of exchanging information and sharing benefits that would be good for the whole group, either a family or a community. On the grounds of human solidarity or altruism, and respect to the heritage of humanity, we contend that there is a duty on all people to contribute to the development of genetic researches that will be used for the interests of others. And cooperation between developed and developing countries should be facilitated (WHO 2002; HUGO Ethics Committee 2002).
We still do not know how to protect the rights, and satisfy the interests of all people in society, and a balance between individual's privacy and public health is essentially needed in genetic research. Researchers are required to continue to obtain informed consent for donation of samples to genetic databases, and ultimately, no person can be enrolled in research without his or her individual consent (Weijer & Emanuel, 2000). Prudential and ethical approaches suggest steps should be taken to ensure that genetic research is carried out within the framework of a regulatory system that would give due weight to social, cultural, legal and ethical considerations, and set up appropriate guidelines.
Science will be beneficial if it is applied to society in a proper way, and research in Chinese society shows that most persons accept some sacrifice to ideals of autonomy for the good of the society (Su & Macer, 2003). The lessons from the ongoing processes of introducing relevant regulations and their eventual results may have an impact on the development of international projects, for example, the HapMap project (International HapMap Consortium, 2004), and human genetic research in general. There is also a great need to initiate public debate to increase awareness of the potential benefits of genomics, to provide robust protections against misuse of information, and to establish clear priorities for care delivery (Fears & Poste, 1999). An ethically "good" database will contribute to the good of both donors and society.

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