Scientists are hoping to build a store of Maltese DNA to help understand how genetics are influencing the diseases people develop – and they are looking for volunteers to get involved.

Dwarna, Malta’s first biobank project, asks adults of all ages to donate blood or saliva to be monitored as part of research that could lead to a better understanding of the biological identity of the Maltese and improve the health of future generations, according to researchers.

Since it was launched six weeks ago, almost 200 people have signed up as the nationwide recruitment process continues.

Prof. Gillian Martin, head of the Department of Sociology at the University of Malta, and Nikolai Paul Pace, an associate professor at the Centre of Molecular Medicine and Biobanking, are working on Dwarna together.

They believe it will help shed light on the contribution of genetics to specific diseases, bring about earlier diagnosis, improved targeted therapy and the implementation of personalised preventive approaches.

An online interactive platform, StudjuDWARNA facilitates research into genetic causes and potential disease treatments as scientists use the biobank.

Studying the genes in DNA, their function and influence on the body is essential for better diagnostics and more targeted management of a wide range of illnesses, from cancer to rare illnesses and common conditions such as type 2 diabetes and heart disease.

We want to build on the concept that the public is a direct research participant, rather than a passive sample donor as happens regularly- Prof. Gillian Martin, head of the Department of Sociology, UoM

Participants in the research involving the Maltese genome may be contributing to multiple potential projects in the future with their consent, said Martin.

The biobanking research is not simply an academic exercise in population genetic structure, said Pace, an associate professor at the Faculty of Medicine and Surgery.

It aims to provide a “comprehensive characterisation of the medically relevant aspects of the genomes of the Maltese population”.

This means looking at specific issues that could impact healthcare, including rare disease carrier rate, as well as the burden and spectrum of genomic variants that drive common disease risk and determine an individual’s response to drugs.

Relevant to both individual and population health, these questions could inform policy development in the era of ‘precision medicine’, Pace said.

What we know about the Maltese biological identity

Recent studies compared, in a broad sense, their genomic structure with data from other populations, showing that individuals with self-reported third-generation Maltese ethnicity map close to both European and Middle Eastern clusters, suggesting a shared genetic ancestry between the populations.

Contemporary Maltese have inherited a genetic legacy from the various peoples that conquered, settled or conducted trade during the archipelago’s turbulent history, Pace said.

“Our collective genetic profile is also consistent with evidence of an island genetic isolate, having a distinct genetic architecture from the mainland European average,” he continued.

StudjuDWARNA is also the “seed” for a longitudinal study, whereby participants are followed up over a long period, enabling researchers to relate genomic data to specific clinical outcomes and disease development.

Pace is currently recruiting for the foundational study, but the samples will be stored in dwarnaBIO, the university’s biobank, for future use.

Access to this data is under strict governance rules and only for research projects that have ethical approval, he said.

Although a first for Malta, population biobanks have been established in many countries and similar approaches elsewhere have provided valuable insight into many diseases, he said.

Even for common diseases, research requires access to large patient and control cohorts, and biobanks were “indispensable players”, he stressed.

For example, the UK biobank, which has been ongoing since 2006, has been looking into why the severity of symptoms for COVID-19 varies so much.

Controlling consent

Martin said the public’s response to the project has been “very positive”, with people getting in touch via dwarna.mt daily.

It is open to all adults, irrespective of age and health.

Dwarna.mt includes transparency of governance procedures and even offers ‘dynamic consent’, whereby participants can change online, at any time, whether their sample is used for research projects.

Through blockchain technology, strict confidentiality and governance are maintained, while ethical and data protection requirements and standards are upheld, Martin stressed.

“Trustworthiness” is the key to encourage the public’s active participation in contributing to the genetic research, she said.

Having both altruistic and individual benefits, studjuDWARNA also pledges to return any genomic findings directly relevant to an individual’s healthcare if the participant opts to know.

“We want to build on the concept that the public is a direct research participant, rather than a passive sample donor as happens regularly.”

To participate

The dwarna.mt portal has a ‘join the cause’ button to leave contact details for biobank staff to get in touch and set up a brief appointment at the university.

After explaining the consent procedure, participants fill in a general medical questionnaire and are offered the choice to donate blood, or a salivary sample.

Questions can be directed to contact@dwarna.mt.