As advances in genomics dramatically contribute to humankind’s comprehension of disease, the capturing of people’s DNA data is underway and some experts are calling for urgent regulation to protect patient privacy.

This week the NSW Government announced a $2.46 Million grant for genomic research into the cause of bipolar disorder, claiming it could significantly improve treatment of the illness. The major collaborative project between researchers at the Sax Institute, NeuRA, the Black Dog Institute, UNSW and the Prince of Wales Hospital will map the genetics of 1200 sufferers of the condition in NSW.

A new genomics centre opened at Brisbane’s Princess Alexandra hospital last month, providing DNA sequencing technology to identify cancer-causing genetic mutations to more than 2000 Queenslanders a year. The Australian Translational Genomics Centre – a partnership between the Queensland University of Technology, the state’s Metro South Hospital and Health Service, and Pathology Queensland – will lead to better treatment outcomes, fewer side effects and better survival rates as part of the Queensland Government’s $25 million Queensland Genomic Health Alliance.

While in the US, the Food and Drug Administration has announced its “historic” approval of the first gene therapy, with experts claiming the move could transform the practice of medicine. 

Alongside these life-saving strides in medical science, concerns are growing about the accumulation of genomics information without adequate controls in place to prevent DNA data ending up in the databases of companies using it for commercial gain.

Head of Monash University’s Public Health Genomics Program in the School of Public Health and Preventive Medicine, Dr Paul Lacaze, has called on the federal government to be more proactive, saying the UK, Canada and most European countries have banned or restricted the use of genetic information in the insurance industry.

“Genomics is going through a critical period of evidence generation. During this period, it is essential to maintain public trust and willingness to participate before mainstreaming into healthcare is possible. We need to ensure regulation keeps pace with technology as much as possible,” Lacaze told Healthcare IT News Australia.

“Australia has not reviewed regulation in over a decade and still permits life insurance companies to request and use genetic information, with little consumer protection.”

In 2001, an entire human genome was sequenced for the first time at a cost of $1 billion. Today, a full human genome can be sequenced in under 48 hours for $4000.

As a result of development so fast it has outstripped Moore’s Law, industries are being created around the easy sequencing of the most unique, explanatory and private of biological information.

[See more: In a historic decision that could transform the practice of medicine, the US FDA approves first gene therapy | Queensland genomics centre opens to transform cancer care]

In the genealogical space, AncestryDNA alone holds the genetic information of more than 4 million customers in its database. Those hoping to trace family trees or satisfy curiosity about their ethnic roots provide the company with saliva samples but also sign away rights to commercialise their results, according to the AncestryDNA terms and conditions.

“By submitting DNA to AncestryDNA, you grant AncestryDNA and the Ancestry Group Companies a royalty-free, worldwide, sublicensable, transferable license to host, transfer, process, analyse, distribute, and communicate your Genetic Information for the purposes of providing you products and services, conducting Ancestry’s research and product development, enhancing Ancestry’s user experience, and making and offering personalised products and services,” the terms and conditions state.

Counselling and consent is particularly important in genomic testing and patients should have overall control over how their data is used, shared and accessed, the head of Genome.One and the Kinghorn Centre for Clinical Genomics, Associate Professor Marcel Dinger, said.

The stakes are high and lack of regulation can erode the uptake of DNA testing for clinical reasons, especially if people fear “genetic discrimination” such as higher insurance premiums for perceived predisposition to disease.

“This may adversely influence public interest in participating in medical research or receiving information that could be helpful for their own healthcare or the health of their family members,” Dinger said.

“If our healthcare system is to successfully evolve towards a more proactive, preventative model, it will be important for regulators and insurance companies to address the risk-rated insurance implications surrounding genetic discrimination.”

The Kinghorn Centre for Clinical Genomics currently has projects underway in rare and undiagnosed disease, cardiovascular disease, immunological disease, neurological disease, and familial cancer, while the genomic facility is used by Australian and international researchers in the study of conditions including schizophrenia, immunodeficiencies, epilepsy and bone disorders.

“Data sharing both in the context of medical research and in rare disease is very important. For rare disease, diagnoses can typically not be conclusively made in the absence of other cases that have the same genetic lesion matched with the same disease characteristics. In medical research, it is often necessary to have access to large amounts of data to make new associations between genetic variants and disease.”

As these ground-breaking developments continue at pace, treatments tailored to patients’ DNA are expected to be routine within the next 15 years.




White papers