Shifting power dynamics in genomic research

 

Donation of human tissues has been at the core of medical research in Europe since religious restraints were relaxed towards the end of the Middle Ages, making this altruistic act socially and morally acceptable. Altruism is the key word—the individual donates their tissues for the greater good: for the advancement of science, the extension of boundaries of medical knowledge, and for the potential to deliver better medical care. The individual donating their tissues or blood does so with no expectation of return or personal gain, and hands over sample ownership to the scientific community in confidence that ethical use will be made of it.

Many would assume this is still the case… but is it? Genomic research has opened up new and exciting avenues for medical research that have the potential to dramatically transform the way medical practitioners strategically select treatment regimes. Personalised medicine is no longer a pipe dream, it is clearly in the cards—the pack has been dealt, and the game is well underway.

The game-changer here is the genome. The established practice of donors passively handing over their samples of blood or tissues for research is impacted by the fact that DNA is in focus here. Their DNA.

Dr Gillian M. Martin

Should this make any difference? Some argue that the fundamental process of donating for the greater good, with no consequent active involvement, is still the cornerstone of the process. There are, however, important shifts in the current social and cultural context that impact the researcher-donor dynamic. Two of these are of particular relevance here. The first is knowledge: the accessibility (via the web) of information about the research process, its impacts and applications, have led to the burgeoning new field of citizen engagement in research. Genomic research, in particular, attracts participants who are personally motivated in the process, with research into genetically linked diseases offering hope for their relatives and future generations. The second shift is that of rights over personal data. Individuals’ rights to the control of their personal data are to be entrenched in the General Data Protection Regulation in May 2018. This EU regulation will sanction a process that is already clear in practice: the trend for individuals to demand control over the ways their personal data are used and stored.

This is where the detached and passive sample ‘donor’ exits stage left, and the research participant takes the limelight. Cynics might claim that nothing much has changed. Samples are collected with consent and research continues, but there is an exciting difference in the dynamics involved. The participant now has the potential to remain engaged by using a process of web-based consent. The various versions of this eConsent or ‘dynamic consent’ that are now available offer the participant and researcher a real-time channel of communication which enables optimum use and reuse of the sample and the accompanying personal data that make it so valuable. The biomedical samples now come with persons digitally-attached: individuals who actively engage in the research process by offering flexible consent via web-based tools. When pooled and stored within biobanks, these samples offer a viable source of DNA with real potential for wide use in research.

Within this scenario, ethicality is enhanced as banked anonymised samples can be used to their full potential and shared, with consent, within the research community. In this way doing justice to the individual participant’s key motivation: to advance scientific knowledge for the benefit of future generations.

Author: Dr Gillian M. Martin

Compiling the first Maltese-to-Maltese Thematic Thesaurus

Dwayne Ellul

Think of a chubby guy you know. It’s been awhile since I read J.K. Rowling’s books but the image of Harry Potter’s Uncle, Vernon Dursley, just popped into my mind. OK. Now how would you describe him in Maltese? Would you use imbaċċaċ or qawwi? Would you choose kbir, tqil, goff or matnazz? Or maybe you’re given to more flowery language and would instead go for qisu l-vara l-kbira, donnu katuba or qisu ħanżir imsemmen? If these nine expressions all happen to have a place in your vocabulary, then you’re on the right track. Before I started my research, I didn’t know there were at least 37 alternatives you could consider before reverting to the default oħxon!

The main aim of my work over the last three years—Il-Kompilazzjoni ta’ teżawru tematiku Malti dwar in-natura tal-bniedem u r-relazzjonijiet soċjali tiegħu, supervised by Prof. Manwel Mifsud—has been to compile a Maltese-to-Maltese thematic thesaurus. This would not only help users find alternatives to the words and phrases they already know, but also to act as a ‘word prompter’ that would enable people to better express themselves when a specific word eludes them.

To help people speak or write better in Maltese, this thesaurus is not structured alphabetically, but rather has a thematic macrostructure. The six themes it covers are: 1. Il-familja u l-ħbieb (family and friends); 2. Il-ġisem u l-kura tiegħu (the body and its care); 3. Id-deskrizzjoni fiżika (physical description); 4. Id-deskrizzjoni tal-karattru (character description); 5. Is-sentimenti u l-emozzjonijiet (sentiments and emotions); and 6. Il-fażijiet tal-ħajja (life’s phases). Each theme is further organised into sub-themes, allowing users to drill down to the headword they need, a sentence that illustrates its use, and a group of synonyms, tagged whenever necessary to indicate archaic words or idioms among other examples.

Even if the advantages of using a thematic thesaurus outweigh those of using an alphabetically organised one, I kept renowned lexicographer Sidney I. Landau’s position in mind: ‘Alphabet is the only sure way of arranging words.’ Consequently, I gave the user a back entry to this thematic thesaurus through an exhaustive alphabetic index that includes around 12,000 entries.

The thesaurus will be published by Merlin Publishers, and we also want to make it available online to encourage widespread use.

Author: Dwayne Ellul
This research was carried out as part of M.A. in Maltese, Faculty of Arts, University of Malta.

Borderline

 

At the European Organization for Nuclear Research (CERN), an army of researchers from around the world are studying the very structure of our universe, starting from the very basic constituents of matter: the fundamental particles.

CERN has some of the largest laboratories in the world, boasting cutting-edge purpose-built instruments like particle accelerators and detectors. It therefore comes as no surprise that, when lecturers from the G. F. Abela Junior College’s Physics Department announced they were organising a visit, all the positions available were quickly snapped up.

There was a recurring theme present throughout our CERN experience: ‘borders’. During our stay, we crossed the Franco-Swiss border several times from our lodgings in France to CERN in Switzerland. Coming from a small islandstate, where any inter-country travel requires a plane or boat ticket, it was a little surreal being able to put our passports away and walk to Switzerland.

The visit helped us reflect on the boundaries we create when trying to study how nature works. We compartmentalise topics into physics, chemistry, or biology, when really these topics are all one large subject seen from different viewpoints. This was most evident in the permanent exhibitions at CERN that touched on topics including atomic structure, PET scans, and the development of computer technology at CERN. There were no borders between the different subjects we studied in different departments back at Junior College.

During this amazing week, we experienced tours of the facility using CERN’s own transport. Many of the researchers use bicycles, taking advantage of all the green areas. We saw dedicated individuals working together for the good of the world, no matter their colour or creed. They overcame yet another border: a cultural one. Their mission is simply to produce outstanding work that will help us understand the universe around us.

The trip opened our eyes in many ways. As a group, we learnt together and supported one another when needed. We shared ideas. Discussed. We were our own mini-unit. With an understanding of this dynamic and all the fields involved, some of us have even been inspired to add a new goal to our list: join the team at CERN.

Authors: Maria Victoria Vella, Josephine Vella and Karen Muscat
This visit was made possible thanks to our sponsors: Liquigas Malta Ltd, Mizzi Motors, and Buzzer Stationers & Publishers. We wish to thank our lecturers for organising the experience, namely Ms. M. Soler, Ms. A. Vella, Mr. C. Busuttil, Ms. L. Bonello, and Ms. E. Bugeja.