A Medical Geneticist Is a Detective Who Studies the Secret World of the Human Genome

Laboratories, white uniforms, absolute sterility, serious faces, and patients looking at all this with slightly frightened expressions; this is one’s first encounter with the Medical Genetics Centre of Santaros Clinics, which is part of Vilnius University Hospital. This is just a superficial image, however, seen with the eyes of a visitor. After spending a bit more time in the center, they will hear the whirring motors of a variety of equipment such as huge refrigerators filled with samples and a considerable amount of modern equipment having unusual names, but they will also see the warm smiles of the people who work here. This is the daily world of medical genetics. During Medical Genetics Awareness Week, Gabija Mazur, Gabrielė Žukauskaitė, and Karolis Baronas, three VU Faculty of Medicine graduates working as geneticists at Santaros Clinics agreed to talk about the nuances, challenges, and opportunities of this profession.

It is said that a real scientist must be able to describe their activities to even a preschool child. Let’s try. Medical genetics: what kind of specialty is it?

Gabija: I imagine medical genetics as a secret world of information about the human genome, in which, by combining many medical fields and using various molecular tools and research methods, we seek to identify a mystery: a disease, a genetic area, or a change that could lead to the manifestation of a particular disease or clinical signs. The goal of a medical geneticist is to solve the riddle and identify the correct answer.

Gabrielė: In my opinion, a medical geneticist deals with invisible and usually immeasurable processes in the nucleus of a cell. These processes determine the harmonious activity of human organs, their systems, or even of the whole organism, and if the system is disrupted, the person develops an inherited disease. The DNA in the nucleus of our cells forms genes, which constitute the main structural unit of genetic science. Genes are like bricks in a house, all equally important and interdependent on each other. Therefore, if the activities of one gene are disrupted, the functions of the relevant organ or their systems are also disrupted. If one brick of the house is removed, the house begins to collapse. The aim of medical geneticists is to find which brick, that is, gene, has mutated, and what kind of disease a person has and why. Genetics is the science that deals with the start of it all.

Karolis: I joke with my students that my work is like that of a real detective. We explore the human genome by looking for a needle in a haystack. Medical genetics is a relatively young branch of science where much remains unknown. So, if we cannot find the cause of a genetic disease, we do not despair, because knowledge in this field is expanding daily and the answer will probably be published in the next scientific publication.

How did you get into medical genetics? What made you choose such studies? Did you consider other choices? If so, why did you make this particular choice?

Gabija: Back in school I became interested in how living organisms work. For me, biology lessons were always special and I understood them easily. After graduating from school, I started the bachelor’s degree programme in molecular biology. During my professional practice, I studied the genes in bacteria that are found in clinics and other environments and that are resistant to antibiotics. I realised that work in a laboratory was unique: no two days were the same. This was the job I had always wanted! During my undergraduate studies, I gained knowledge from various fields of science, but in the final years of my studies I became interested in human genetics, so I chose to continue my studies in the field of biomedical sciences, and I did not even consider other choices.

Karolis: My path toward my dream profession was very winding and full of potholes. During my bachelor’s degree studies in biophysics, I felt that genetics was more interesting to me. After a few years of searching for my path, I decided to apply to the master’s degree programme in medical genetics. My choice evolved very organically. At the time, as it is now, it seemed very promising and very interesting.

Gabrielė: My choice was always clear to me. In school, during biology classes, I was particularly interested in the topics of human anatomy and genetics, and I was also interested in chemistry. This is how I came to understand that I would like to study a subject that combined these three components. I acquired a bachelor’s degree in human and animal genetics at another university, but I did my internship and final thesis at the Department of Human and Medical Genetics of the Faculty of Medicine at Vilnius University. After this internship, I realised that I wanted to study human genetics in more detail and contribute to the diagnosis of genetic diseases in humans. So, I enrolled in the master’s degree programme in medical genetics. I’ve continued studying at Vilnius University and am currently in my last year of Ph.D. studies.

What memories of your academic years would you like to share? Can you identify a particularly memorable event or a lecturer?

Karolis: I remember there was a lot of intense but interesting work. Perhaps the fact that my colleagues had already completed their bachelor’s degrees in genetics was the reason for my many sleepless nights. Studies, however, went by very quickly. Of course, there was laughter and tears, and sometimes just tears (smiling).

Gabija: Most of my memories are related to practical activities, which are given plenty of attention in these studies. During the internship, it seemed that lecturers chose rare, complex clinical cases, especially for us students so we could apply as much knowledge as possible. In my work as a medical geneticist, however, I realised that this is a daily practice for us. I remember my professional practice as an important part of my studies. I went to one of the presentations during my professional practice in June wearing my mountain boots, and I kept my backpack for my mountain hike in a changing room, otherwise, I would have missed my flight. Of course, I am able to plan my time a little better now (smiling), both at work and in my private life.

Gabrielė: I remember an occasion when the majority of my course did badly during our first examination in Statistics and the lecturer allowed us to earn additional points by completing extra tasks. Immediately after the examination, I went with my fellow students to a bar where we solved statistical tasks until very late; this is where we understood the topics we had failed to grasp before (smiling).

What would you recommend to those who are considering a master’s degree programme this year? Would you choose medical genetics again? Why?

Karolis: If you are interested in genetics, care about people, and are not afraid of science, just go for it! I would definitely repeat my studies!

Gabrielė: Yes indeed! In my opinion, a bachelor’s degree programme is not enough. The core information and understanding only really become clear during the master’s degree programme. So, if you wish to improve your knowledge in diagnostics, learn the latest methods in genetics and bioinformatics (which helps to identify various genetic diseases), get acquainted with molecular genetic processes, and apply all that knowledge in practice, then I would suggest enrolling in the master’s degree programme. However, it is also essential to understand that this area of science is not easy. It requires not only time but also analytical and multidisciplinary thinking.

Gabija: I agree that the master’s degree studies complement theoretical and practical knowledge and plenty of valuable experience working in the laboratory. If you discover an activity or area of interest, I suggest you take a look at the master’s degree programme. I believe that the content of the study programme must also motivate you to choose the master’s degree programme. Since I dreamed of learning how to conduct molecular genetic research and working at personal healthcare institutions, I would certainly choose the master’s degree programme in medical genetics again. It is a programme designed to help you acquire the necessary knowledge to work as a medical geneticist.

Upon completion of a master’s degree in medical genetics, you can choose either a clinical or scientific career. What are the challenges and positives of your choices?

Gabrielė: I chose both areas: clinical and scientific. What I have learned in clinical practice can be easily applied in science, and vice versa. For me, this is the perfect model of work, because both areas complement each other. There are days when the ‘sky is falling’ and the amount of work is almost endless, but when you overcome the challenges, a high level of satisfaction is your reward (smiling). For example, there is no better feeling than identifying the cause of an illness and finally finding the answer to what is wrong with a patient. This is how I feel I am doing something meaningful for people, which is one of the most important aspects of my work and part of my self-expression.

Karolis: I agree that the clinical work of a medical geneticist is inseparable from scientific work and the academic environment. We almost always rely on the latest scientific literature in our clinical work, so research is a big part of our clinical work. And when you learn new things, you want to share them with students. And the wheel revolves again.

Gabija: Differently from the others, after completing my medical genetics studies, I chose diagnostic/clinical work. Every day in my work, I face a variety of challenges that make me look for solutions, so I never get bored. It is highly responsible work that requires a lot of interdisciplinary knowledge, practical experience, and diligence. This work is also closely related to the scientific work carried out around the world and to the latest literature, so it is necessary to constantly take an interest and update oneself with the available information. I am very happy with my professional choice!

Medical Genetics Awareness Week is a week of events designed to better understand what medical geneticists do and why and how important their contribution to the diagnosis, management, treatment, prevention, and public understanding of genetic diseases is.