Storing it can be expensive. Deleting and resequencing it is even more expensive, plus labour-intensive. And sharing it comes with a raft of ethical, privacy and security issues.
A new paper in The Journal of Law and Medicine explores these challenges, concluding that shared data platforms are critical for a nationwide approach to genomic medicine. Its authors include Melbourne Genomics staff members Keeley Reade and Prof Clara Gaff, as well as former team member Dr Natalie Thorne.
The paper points out that genomic data management issues sit at the interface between law and medicine. These issues also reflect a broader change in the direction of healthcare. "As we move increasingly from symptom-based to preventive medicine and from treatment-specific to holistic health care, new infrastructures will be needed to assist with these transitions."
What makes genomic data different to other data routinely collected across the health system?
First, genetic conditions are shared across families, meaning that a person's genomic data also holds clues about their blood relatives. Second, a genome holds a vast amount of information about a patient. This data can be reanalysed as our knowledge increases, either to diagnose an existing condition or to identify future health issues. Third, genomic data has immense value for research – yielding new insight into genetic conditions or informing population-wide disease management strategies.
These features pose ethical and logistical challenges: from balancing patient confidentiality with a family member’s right to know about their own health risks, to navigating consent for the multiple ways a patient’s genomic data may be used for clinical or research purposes.
Sharing of clinical data is high on the Australian Government’s agenda. The Australian Digital Health Agency is leading on development of Australian interoperability standards and a plan to strengthen health identifiers. These initiatives are key building blocks for clinical data sharing generally, which can be built on in the future to include genomics.
How can shared data platforms help?
The paper argues that shared platforms will be critical to meet the legal, ethical and logistical challenges of genomic medicine. It presents a case study on Genomical®: a software platform built by Melbourne Genomics to support genomic testing across multiple medical laboratories.
Building Genomical helped to clarify the requirements for shared genomic data systems. These include:
- moving from on-premises data storage to cloud-based solutions, to accommodate for rapid growth in the amount of data stored and to quickly scale processes.
- designing for health interoperability, including a health integration engine to facilitate communication with hospital digital systems, and the use of standardised health integration methodology
- establishing security and governance processes to enable safe data sharing between laboratories, with patient consent
- enabling 'data visiting' - where analysis happens in a secure environment without copying the data to new locations.
Making genomic data shareable means that patients don’t lose their genomic records when they change doctors or move states. Good data governance ensures patients can control when their data is used and for what purpose. And giving researchers access to clinical data – with patients’ consent – will drive new medical breakthroughs.
Platforms like Genomical, which enable clinically standardised and controlled data management, are key to the future of genomic medicine in Australia.
Read the full paper (login required).