Issues Magazine

Regulating Genetic Information under the Privacy Act

By Alma Pekmezovic

Harvard University’s Personal Genome Project highlights the difficulty of balancing progress and privacy.

Genome research is potentially a very powerful tool for addressing any medical issue. It has the ability to influence our basic understandings of human life and complex disease. The transfer of findings from genome research into clinical applications that generate novel insights and new methods for therapy are likely to have an enormous impact on human welfare.

Despite the potential benefits of genome research and the hopes that this strand of research inspires in ill patients, there are many potential risks. Genome research presents an array of ethical and legal challenges, and one of the key challenges facing modern regulators is how to properly deal with the impact of genetic research and novel innovative genetic technologies on the safety and privacy of our personal information.

Harvard University Medical School has recently launched a new project that aims to challenge some of our most fundamental conceptions about our personal genetic information. The Personal Genome Project is recruiting volunteers who are willing to contribute their genome sequence and personal information to the research community and the general public. The Personal Genome Project aims to maximise the number of participants in the program in order to create a large and diverse database of genetic profiles.

To be eligible to participate in the research study, interested individuals are required to give informed consent. They then submit various “trait questionnaires” designed to elicit information about their allergies, immunisations, medical history, medications, physical traits and measurements, diet, ancestry, lifestyle and environmental exposures. Finally, participants undergo various biological analyses and DNA sequencing tests that reveal their genetic information. This information becomes part of a detailed mosaic of information about the individual.

Participants in the Personal Genome Project may choose from three levels of transparency: default access, controlled access and public access. Default access allows only the participant and a select number of researchers access to the information, while controlled access makes the genetic information available to a wider circle of researchers. Public access – the lowest level of privacy protection – enables any visitor to the website to view the information.

The possibility of creating detailed individual genetic profiles raises many moral and legal issues. Should participants in projects such as the Personal Genome Project be required to obtain the informed consent of their family members? How should the possible future uses of this information be regulated? Who should have access to the information, and at what cost? What are the implications of genetic discrimination at law? In choosing the desired level of privacy and transparency, should the participating individuals be required to consider the interests of their genetic relatives? The last issue is particularly significant given the potential for abuse of genetic information.

The foundation of current laws and rules governing privacy is the protection of personal information. The Privacy Act 1988 (Clth) aims to offer appropriate protection for “personal information”. This has been broadly defined as “information or an opinion (including information or an opinion forming part of a database), whether true or not, and whether recorded in a material form or not, about an individual whose identity is apparent, or can reasonably be ascertained, from the information or opinion”. As the definition currently stands it could extend to cover “genetic information” forming part of a database such as the Personal Genome Project.

The Act also contains a set of principles aimed at regulating the use of “sensitive information”, which extends to information relating to an individual’s race, gender, political affiliation, ethnic origin and religious or philosophical beliefs. Importantly, however, the definition mentions “genetic information”.

The Act reflects the fundamental principle that individuals as proprietors of personal information have a right to determine the uses of this information. The Act is premised on the notion that there need to be some safeguards for the protection of genetic information. However, the scope of legislative protection is not elaborately set out. This will require further and more detailed consideration in the future.

Although it is still early days, genome research is likely to expand and undergo growth. It is therefore crucial to have a social and political debate about the scientific, legal and moral implications of genome research. It is essential that this debate is an inclusive one that covers a broad spectrum of ethical issues stemming from genome research and encompasses a wide range of interested parties. Privacy is only one pertinent issue amongst many.

Hopefully, this debate will facilitate better communication between the general public, at one end of the spectrum, and the scientific community and lawmaking bodies, at the other.

First published as a La Trobe Opinion on the La Trobe University website ( on 13 November 2008.