Transparency with study subjects is paramount. Image: Lumen Photos/Shutterstock
Access to unprecedented quantities of data and groundbreaking technological advances are altering how we look at health.
The rapid evolution of scientific technology has brought about significant transformations and discoveries that have contributed to the advancement of society as a whole, particularly in data collection, processing and analysis.
Collection and analysis of cellular and/or genetic data from study participants is the fulcrum of biotech fields such as neurobiology, immunology and, perhaps most recently, genomics. In just a few short years, particularly since the 2003 completion of the Human Genome Project, technological advances and unprecedented quantities of subject data have seen costs of procedures such as genome sequencing plummet.
Discovery and ethics
With such dramatic technological leaps occurring, naturally some questions arise about the privacy and security of personal data submitted by study participants.
How must scientists now proceed in a world with cutting-edge equipment and seemingly endless data mines to trawl, while also ensuring the safety and anonymity needed for such sensitive information? We’re currently living in an era brimming with potential for life-altering fields such as precision medicine to come to the forefront, but what should best practices be going forward to ensure ethically sound innovation?
‘An explosion in technologies’
As professor of comparative immunology at Trinity College Dublin, Cliona O’Farrelly has seen a sea change in data collection and analysis since her career began.
“Research in biology, and immunology in particular, has been revolutionised by the explosion in technologies in data handling and analysis.”
The technological leaps have been the “decisive stimulus” in this particular scientific revolution, according to Prof Walter Kolch, director at Systems Biology Ireland (SBI) at University College Dublin (UCD). SBI researchers work to design therapeutic approaches to diseases with a focus on cancer, based on a systems-level understanding of cellular signal networks.
‘We need to combine different types and sources of data to really get the molecular picture of the status of a patient or human being’
– PROF WALTER KOLCH
Prof Walter Kolch at Systems Biology Ireland. Image: SBI
More data is not always better
For Kolch, the main focus should not be the volume of data or scale of datasets. As a precision-medicine expert, he believes data integration is the way forward.
“A lot of the data we’re generating is still fairly noisy and actually, if you look at the information content of each piece of data – for instance, a genome sequence or a protein expression or a gene expression – it’s not enormously high.
“We need to combine different types and sources of data to really get the molecular picture of the status of a patient or human being.”
The integration of datasets, from biochemical and genomic data to clinical history, is the next major step towards developing a much deeper picture of an individual’s health status.
‘Ultimately, the idea is to improve the quality of treatment and life for the person using data’
– DR STEVE MEANEY
Assistant head of the School of Biological Sciences in Dublin Institute of Technology (DIT), Dr Steve Meaney, explained that obtaining a deep dataset about a person by integrating different data sources means that better prognostic decisions will be able to be made in the near future. “Ultimately, the idea is to improve the quality of treatment and life for the person using data,” he said.
From left: Dr Steve Meaney with student Jamie Song at DIT Grangegorman. Image: Jason Clarke
Researchers and participants are part of a team
There are obviously existing stringent ethical frameworks in place for the handling of sensitive data in studies, but will new elements be required as more data is collected, stored and used by researchers?
For O’Farrelly, who is currently leading a research lab investigating hepatitis C virus immunity and Irish women injected with contaminated anti-D in the 1970s, treating studies as collaborative projects is of vital importance.
“I have often spoken and really emphasise that we are part of a team. The scientist can only make the discoveries we do if we’re engaged with the group and they are prepared to give samples and give the information.”
Prof Cliona O’Farrelly of Trinity College Dublin. Image: TCD
This sentiment was echoed by Dr Meaney, who explained that the culture around scientific study and procurement of data has radically changed.
“Historically, the researchers viewed the people involved in studies as ‘subjects’ – as in, ‘I’m doing something to you’ – whereas the cultural understanding now is that you do something ‘with’ people.”
A new ethical framework for biological data?
Dr Sean Ennis, CSO of Genomics Medicine Ireland (GMI) and director of UCD Academic Centre on Rare Diseases (ACoRD), described data privacy and protection as “paramount” in terms of the work he and his team do.
The direct communication is between a study participant and the research site, and all identifying information is “pseudonymised, which means that the information about the participant may be relinked to the participant but only through a rigorous process that will be led by the research clinic”.
Full and explicit consent is a vital element. Ennis added that “there is an onus on the entire scientific community to stay abreast and remain at the forefront of data laws and regulations”.
Dr Sean Ennis, CSO of Genomics Medicine Ireland and director of UCD Academic Centre on Rare Diseases. Image: MKC Communications
Kolch noted how the rapid pace of technological innovation sees something of a game of catch-up playing out in terms of data ethics.
“The technological revolution happened so fast, it sort of outpaced our framework development, and a lot of what we are doing now is in a certain grey zone.
“On the one hand you’ve got this huge potential of this data, but on the other hand you have this danger that you can characterise this person up to the finest molecular detail.”
Both Kolch and Dr Meaney made mention of ‘data horror-story’ scenarios of the future, such as the oft-cited spectre of people being denied insurance because they have certain genetic mutations, or people being excluded from certain activities due to their metabolic profile.
Although this is a rather dystopian lens with which to view the potential of these rich datasets, emphasising regulations and ethics in a pragmatic manner is the best way to avoid future quandaries. “This could be achieved by being proactive around consent so people are told what the data is for,” said Kolch.
‘I think in Ireland, people are very informed and very engaged’
– PROF CLIONA O’FARRELLY
Research institutions and organisations have a digital duty of care, Dr Meaney explained. “At DIT, we would be quite strict from an ethics point of view about data – encryption is mandatory. You must inform the participants about what’s being collected, where it’s being stored, who has access to it.”
It seems that, as it is with every type of personal data – whether biological or otherwise – keeping people informed is pivotal at all stages.
Unlocking potential to fight disease
Dr Ennis explained that there is an “incredibly strong” desire among those with a chronic complex disease and their families to find a cure, and this is the biggest impetus for people to participate in a study.
“We expect that as more people are educated to the potential of genomic research and more studies are rolled out, we will see increased interest among the general population to participate.”
‘Data and privacy protection must be at the core of everything we do’
– DR SEAN ENNIS
In his view, data protection and transparency are the lynchpin of the work that is being done at GMI, where the team is conducting studies across a number of chronic complex disease areas to understand the genetic, lifestyle and environmental factors which contribute to disease.
“Data and privacy protection must be at the core of everything we do – it is critical to the success of our research, in ensuring participants trust how we hold their data, in translating our discovery to tangible results to improve health.”
The proactive nature of patient groups was also cited by Dr Meaney, particularly among those with cystic fibrosis and their families. “They are quite proactive about being involved in studies; there’s a big range of groups and charities that will fund or want to be involved in studies as active participants.”
This has also been a theme during the career of O’Farrelly, who has done work with patient groups in coeliac disease and rheumatoid arthritis, and she said teamwork is vital to her ongoing research with the women involved in the hepatitis C study. “I think in Ireland, people are very informed and very engaged.”
The requirements for people to know about how their data is being used are key, said Kolch, but equally important is the potential their information may contain to transform lives.
An Irish viewpoint
In an Irish context, there are many bonuses for conducting health and disease-related studies here.
Dr Ennis said: “Ireland offers many advantages for genomic research. First and foremost, we have a large and relatively homogenous population when compared to other western cultures – this means researchers have the ability to identify disease-relevant variations in DNA samples collected more quickly and easily.”
Ireland also has statistically relevant incidence in the population of a wide range of currently incurable medical conditions such as MS, IBD, Alzheimer’s and other rare disorders. Given the size of the Irish diaspora, the population here is also quite representative of the rest of the world.
It is an exciting time for those working in fields such as genomics, immunology and precision medicine. Continued technological breakthroughs coupled with mindfulness in terms of subject data could spell dramatic improvements in the treatment and prevention of a range of diseases, and a better quality of life for those who live with illness.
