People from all walks of life can now participate in a first-ever biobanking research which focuses on the Maltese genome, through the newly launched online portal dwarna.mt
Dwarna and studjuDwarna are part of a unique research project which encourages the general public to participate in contributing to research involving the Maltese genome, to give a clearer understanding of the genetic causes and potential treatments for diseases in a local context.
Officially launched on 22 June, with participants already showing interest in the study, the project seeks to provide a bird’s eye view, and a better understanding of what the genome of the population is all about, Professor Nikolai Paul Pace, a geneticist, said in comments to The Malta Independent on Sunday.
Pace, along with Professor Gillian Martin, are part of the team leading the Dwarna projects. One of the main deliverables is the Dwarna.mt portal, an online space which serves as an outlet for connecting the researchers, the public and the participant.
It engages participants who donate a DNA sample to the biobank at the University of Malta for research, offering them the option to remain in control of which research studies it is used for in the future – a process called dynamic consent.
Martin, who is a medical sociologist, explained the importance of reaching out to the general public and consequently empowering them, as researchers have found that the public knows very little about what a biobank is, and why contributing a sample to a biobank can be very important for medical research.
“Our portal is a place where anyone can go online and have a look at all the various brief information videos where we explain what participating entails, the implications and the participants’ rights. This portal gives more control to the participant, where they can remain in contact with scientists,” Martin said.
While it is not mandatory, the participant can choose to remain in contact with the scientists at the biobank and give consent for their sample to be used in future studies.
The portal also includes an area where the findings of the research project can be communicated, Martin said, adding that its use is to promote research and public engagement.
The participant will be able to understand what has been done with their sample, what study it is being used for as well as the impacts the research would have had.
Participants can donate their DNA through a salivary or a blood sample and it would be stored in a biobank for potential future use.
“If a scientist wishes to use a sample for a new study, the scientist will get in touch with the participant via the portal, tell them about the study and receive consent for the sample to be used in a different study,” Martin said, emphasising the empowerment of the participant.
She said that participants will be able to access their own profile on Dwarna.mt, and can see which studies they are participating in. They also have the option to add or remove studies their sample is involved in, as well as withdraw consent if they wish.
Speaking about genomics, Pace explained the complex subject in simple terms: genomics is the study of the entire human genome, the DNA content in a cell and how that dictates or drives disease risk.
“Genomics has come a long way due to technological advances; it is now possible to sequence an entire human genome in a few weeks at the cost of less than $1,000, whereas the first draft of the human genome took 10 years, and a multimillion-dollar effort by the largest universities in the world,” Pace said, putting it into perspective.
He said that now technology has come a long way and genomics is now reachable to the public, small hospitals and universities such as Malta’s. It is also increasingly important to clinical medicine.
“We now have this urgent need to describe the genomic characteristics and perform a comprehensive evaluation of the Maltese population at large,” Pace said, adding that while there are several genomic research projects ongoing at the University of Malta and the Centre for Molecular Medicine and Biobanking, which focus on specific diseases and projects, we are lacking an overall view.
He said that people from all walks of life, all age groups, without needing to have a particular disease or condition, can come forward and become part of the population genomic study.
“What we plan to do in studjuDwarna is reach out to the public through the portal and ask interested individuals to sign up. Eventually we will get in contact with them and they will be invited to come into this very room to donate their sample,” Pace said, referring to the clinic at the premises of the University.
He said that participants will be asked brief questions related to their medical history, if any, to seek informed consent. They will also be asked if they would be interested in receiving the results of specific findings which might directly impact one’s health.
“If in the course of a genomic study, we find out that participant X has an actionable genetic variant of interest that directly impacts their health, we will get in touch with the participant if they opted to be informed in the first place,” Pace said, calling these findings “incidental findings”.
The researchers would not be looking for incidental findings, but they might crop up in the course of analysis.
“It has to be an actionable incidental finding. While it is not the primary objective, if we find a harmful genetic variant in a particular individual which greatly increases their risk of a particular disease, directly impacting their health and one can act on it, then we will inform the individual and rope in clinical colleagues as well, if the participant opted to know,” Pace said.
He said that questions by the participant who would want to know if they have a chance of inheriting a disease in their family’s medical history would be addressed, but added that genetics does not determine destiny, even for simple genetic disorders.
“There would be a risk, but one cannot reliably predict. One should maintain a healthy lifestyle independently of one’s genetics,” he said.
Martin then explained that it is ethical to let the individual know about actionable incidental findings if they chose to know, but emphasised that the main aim of the Dwarna portal is to enhance public participation in research that aims to improve the health of future generations.
Pace said that we do not, as of yet, have a holistic view of the Maltese genome, so obtaining genetic data from people who are not coming from a clinic, but the general population, is important to help geneticists and doctors interpret the results of genetic tests more reliably.
“There are important genetic differences across populations. Most of the control data sets in use by geneticists nowadays come from Northern Europe or Northern American datasets. We know that we are not Northern Europeans, and we do have a significant Middle Eastern element in our history,” Pace said.
He added that the study is not revolved around race or ethnicity, but one needs to have a matched controlled genome from the same population the subjects are coming from.
“This is where a broad overview of the genomes in Malta would be relevant,” he said.
Pace also said that specific questions will be asked which may help doctor colleagues understand the frequency and spectrum of genetic variants, which, for example, determine the different effects of certain drugs on two individuals, which might not be the same.
He said that the study hopes to inform hospitals on the future in the field of pharmacogenomics, as well as the carrier rate for rare genetic diseases.
Disease carriers are individuals who bear a harmful genetic variant and generally do not exhibit symptoms, but if one’s partner is also carrying a harmful variant in the same gene, this could pose a risk for their child to inherit a serious genetic disease, naming Thalassemia as an example, Pace said.
From the common disease perspective, Pace said that we still do not understand if higher prevalence of common conditions such as diabetes and obesity in the local population is due to a combination of environmental factors, lack of exercise and healthy eating or due to the inherent genetic structure of the population.
“These are small examples of the complex questions we want to address and to be able to answer these questions effectively. In doing so, we can generate information that can guide healthcare professionals,” Pace continued.
An appointment would take roughly an hour and participants will be invited to come to the clinic, have a brief chat and have the option to select which study they would like to participate in in the future.
Pace emphasised on the investing in the concept that the general public is a direct participant in the research, and not just a donor of their sample.
Asked if the study would answer questions about the most common genetic diseases in the country, such as diabetes, Pace said that while a sharp rise in prevalence of many common diseases has been noticed in Malta as compared to other European neighbours, it is mostly due to environmental and lifestyle factors, and not directly genetic elements.
There are also those diseases who are purely genetic and those which sit in the middle, having shared social, genetic and environmental factors, such as cancer, obesity, diabetes and asthma.
Asked if the country is adequately equipped to tackle certain diseases, as compared to other countries, both Pace and Martin replied in the affirmative, saying that Malta’s healthcare system does wonders, and the country’s life expectancy is high.
“What we lack is a more precise understanding of the medically relevant bits of our genetics,” Pace said.
Could the study lead to the development of new therapies? In the long run, potentially yes, Pace said, adding that it is not clear why some diseases are more prevalent in the local population, and factors which drive these conditions.
“There are bits and pieces from different studies, but it has never been collated and put together. We are envisioning this dream of putting together this collection with subsequent genetic analysis as a resource for all researchers, including those in generations to come,” Pace said.
Asked about the social impacts derived from the study, Martin said that with a clearer understanding of the typical Maltese genome will enable medical professionals to better understand the causes of some diseases, and therefore improve treatment – this will impact the quality of health in the future.
“The social impact of studjuDwarna is that it will eventually lead to better medical treatment, and the social impact of the Dwarna.mt portal is that it empowers the individual to remain engaged in the research process if they wish,” Martin said.
She continued that the portal will make it possible to remain engaged, in contrast to the situation where participants’ direct personal involvement in the research process would normally end once donation and consent takes place.
“The societal impact is that the participants are more informed and empowered, understanding exactly what they would be consenting to, and with the capacity to amend their consent in order to use their sample in new studies of their choice in the future. This is what we call dynamic consent, or e-consent, which is cutting edge and innovative,” Martin continued.
Martin and Pace emphasised that the study is not for a call for individuals to go and check their genetics, but a call for people who want to participate in research and benefit the community at large.
“It is important to note that this is not a diagnostic service. We want the public to be an active research participant. The results are there to primarily inform the medical community, so this is for the greater good of the health of this generation and ones to come,” Pace said.
Martin concluded that this is an opportunity for the public in Malta to be part of the research process in a way which has never been available in Malta.
Dwarna portal was the key deliverable of a project sponsored by EPIC.
More information on dwarna.mt