The ethical issues surrounding genomic testing are often complex and varied. A Question of Ethics is a four-part blog series by Australian Genomics, in collaboration with the Biomedical Ethics Research Group at the Murdoch Children’s Research Institute. It explores ethical situations a family might encounter when considering genomic testing for their child.
By Fiona Lynch, Chris Gyngell, Zornitza Stark and Danya Vears.
Around the world, situations like Yasmina’s occur every day. Modern medicine is generating huge amounts of genomic data. In most cases, after the diagnosis is found, the data is stored without further use.
But instead of just being stored, genomic data could be shared with other health professionals and researchers. These large genomic datasets could hold huge potential for both research and clinical care. This is because the more data we have to compare patients’ genomic data with, the easier it is to figure out which changes in the DNA are likely to cause disease.
The benefits from patients sharing their genomic data could be wide reaching. It could help increase rates of diagnosis, determine which therapies work best for certain types of disease, and select which medications might have the fewest side effects for patients. But for these benefits to be realised, we need bigger and more diverse datasets.
A lot of genomic research requires enormous sample sizes, sometimes upwards of tens of thousands of participants. And because of the genetic differences between populations across the world, we can’t rely on genomic data donation from only one or two countries. The future of genomic medicine therefore depends on large numbers of patients, families, and members of the public from diverse groups donating and sharing their genomic data.
So, if sharing genomic data is so important, why isn’t it happening more?
We need systems to safely and effectively share genomic data
Currently, we don’t have great systems in place to share genomic data securely, or to link existing smaller genomic databases together to make them useful. We also don’t have regulations in place to say who should have access to the data and who makes decisions about this. Until now, we also haven’t had a good understanding of how members of the public weigh up the different aspects of genomic data storage and sharing, which is important information to help guide decisions about how to manage these large datasets.
Our recent research aimed to explore these questions.
We used a series of focus groups to ask members of the Australian public about their views and preferences for how genomic data should be stored, shared and used.
We found that most people are willing to share their genomic data with health professionals and researchers. However, they’re distrustful of private organisations like insurance companies. They also aren’t keen for employers to have access to their data.
People also had mixed feelings about sharing their data with pharmaceutical companies. While these companies are often profit-driven, they also create medications and treatments that can help patients.
Control over genomic data is key
Importantly, people want control over what happens to their genomic data. Most people want to know what is happening with their data, and to be able to change their minds about where and with whom their data is shared as their opinions change.
Models like dynamic consent – which allows people to change their mind over time – have been used in some research settings. However, these can create complexities for researchers working with large datasets.
Automated platforms for dynamic consent – like an online portal – could be helpful for both patients donating their data as well as anyone wanting to access the genomic datasets.
Letting people change their minds about who can access their data at any time may also help to ease concerns about potential misuse of their data. In our study, participants were worried that they didn’t know what the future held and that their genomic data could be used in ways they had no control over. Dynamic consent would minimise this possibility.
Dynamic consent would also mean that children like Yasmina – whose data is stored when they are young – could be asked whether they want to continue sharing their data when they reach adulthood.
More and more patients like Yasmina are having their genomes sequenced every day, generating increasing amounts of genomic data. What we do with this data – how it is stored, shared and used – is still up for debate. While there are huge potential advantages, there are some kinks which haven’t yet been ironed out.
Research like ours and others around the world will help figure out what is important to the public. This will help to inform how we can best maximise the benefits of genomic medicine while keeping people’s data safe.
Read part one of A Question of Ethics blog, Should parents be allowed to decline genomic testing for their children?.
Australian public perspectives on genomic data storage and sharing: Benefits, concerns and access preferences. Lynch F, Meng Y, Best S, Goranitis I, Savulescu J, Gyngell C, Vears DF. Eur J Med Genet. 2023 Jan;66(1):104676. doi: 10.1016/j.ejmg.2022.104676. Epub 2022 Dec 5.PMID: 36473622