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Sharing isn’t always caring: genetic privacy must come first

Genetic information should only be shared with full and informed consent. Jack Fussell

Yesterday on The Conversation, Timothy Smith from the Florey Neurosciences Institute argued that in order to improve genetics research, we need free and open access to genetic information. But while the potential benefits of sharing genetic information are enormous, they cannot be allowed to come at the expense of individuals’ rights to privacy of their medical information.

Australia’s national Privacy Act and state health records legislation recognise patients’ rights to privacy, and complement traditional patient-doctor confidentiality.

But this protection was eroded in December 2010, when Public Interest Determination 11A, issued under the national Privacy Act, came into effect. Under this determination, it became lawful for a doctor to contact a patient’s relatives, without consent, and advise them of the consequences of the patient’s genetic condition. The doctor must reasonably believe the information is necessary to enable reduction or prevention of a “serious threat to the life, health, or safety of the relative”.

This determination erodes the concept of doctor-patient confidentiality. If a patient’s condition has a genetic component, it effectively permits a doctor to ignore the patient’s wishes and advise relatives of the condition. This may (or may not) benefit the relative but it ignores the patient’s right to privacy.

Right to autonomy

Autonomy - the right to self-determination - is a fundamental human right. Without it, humans become means, rather than ends, and are denied their inherent value. They are viewed simply as the units which exist for the utilitarian whole.

Doctors can contact a patient’s relatives, without consent, and advise them of the patient’s genetic condition. John Starnes

Australian law, and western medical ethics, are both founded on the principle of individual autonomy. This respect for personhood includes the individual’s right to decide how his/her medical information may be collected, used, and disseminated. It doesn’t regard individuals merely as a means to an end, or as objects that can be disregarded on the basis of an assertion of community good.

The trouble with genetic information is it doesn’t just affect the person who is its source; it also provides information about that person’s relatives – past, present, and future. Any decision about the collection, use, and dissemination of an individual’s genetic information may have consequences for relatives who haven’t agreed to share the information and aren’t aware that sharing has taken place.

When sharing goes wrong

The Human Genome Project is a testimony to human endeavour. Analysis of the genetic information of individuals suffering disease and illness is critical to developing treatments. And the power of such technological advancement is breathtaking.

But while the technology has progressed in leaps and bounds, the social developments that must necessarily accompany technological advancement of this scale, including law reform, have lagged behind.

The ugly side of the benefits of using genetic information to improve our understanding of disease is that it also expands the capacity of humans to make fundamental judgements and discriminate against others. Scenarios for genetic surveillance and discrimination range from the minor – such as a child missing out on a spot on the school football team because they are not genetically athletic – through to discrimination in employment and insurance, and, at the extreme end of the spectrum, eugenics (the science of improving race).

Disclosure and sharing of information should be encouraged, but it needs to occur within a principles-based framework, to protect the interests and rights of those alive now, and also those in the future.

All individuals should have the right to decide how their medical information is collected, used, and disseminated. John Wesley Barker


The need for tighter regulation of genetic information has recently been recognised in other jurisdictions, most notably Europe and the United States, driven by the expansion of direct-to-consumer (DTC) genetic tests. Consumers send a DNA sample, usually a mouth swab, directly to a laboratory which runs a battery of predictive DNA tests. The consumers pay for that testing and they receive a profile indicating their relative risk of developing certain diseases.

Although frequently marketed as “recreational” genetics – more for entertainment than clinical purposes – profiles can be misunderstood. Some consumers have made clinical decisions based on flawed or weak tests, or inadequate understanding of the results. Other issues have arisen when consumers have subsequently discovered that their DNA sample and genetic information have been added to a DNA collection and made available to commercial clients, without their consent.

Traditionally, DTC genetic testing companies have offered their services across borders, via the internet. This presents significant jurisdictional issues for regulators.

Patients must understand the potential consequences of sharing their genetic information. laimagendelmundo

But a recent attempt to provide DTC testing kits over-the-counter in US pharmacies prompted the Food and Drug Administration to review the regulatory arrangements in place and congress to launch an enquiry into the industry. The enquiries have uncovered significant concerns about the potential for misuse of genetic information.

The European Union has already moved towards more fundamental protection of genetic privacy, aiming to balance potential conflicts between social and individual needs on the basis of human rights.

Informed consent

People have inherent value: they are more than the sum of their DNA sequence. Although altruism in sharing genetic information – for the benefit of your relatives and the benefit of others who are facing disease and illness – should be encouraged, it should never be compelled. It should only occur in the context of informed consent.

Many people have a limited understanding of the ways genetic information is used and might be misused. If this places a greater burden on clinicians and scientists to ensure patients understand the potential consequences of sharing their genetic information, that should be viewed as a necessary part of obtaining the benefits of such information.

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