Vaidutis Kučinskas About the History of Medical Genetics in Lithuania: “We Started from Scratch”

The third annual Medical Genetics Awareness Week will be celebrated across the world raising awareness of this field of science. Prof. Vaidutis Kučinskas of Vilnius University is the pioneer of Lithuanian human genetics and a world-renowned scientist. He is a member of the Lithuanian Academy of Sciences, a habilitated doctor of biomedical sciences, and a prominent employee of the country’s healthcare system who continues to be a dedicated gene researcher. On his initiative, Medical Genetics Awareness Week will be celebrated for the first time in Lithuania in the week of March 22-26. The professor talks about his career, accomplishments and medical genetics.

On 16 February, Restoration of the State Day in Lithuania, President Gitanas Nausėda awarded you with the Officer’s Cross of the Order of the Lithuanian Grand Duke Gediminas for merits to Lithuania. This is just one of your honourable awards. It would take a lot of time to list all your awards, your achievements, saved lives, various public activities, initiatives or published articles. What does this appreciation of your activities mean to you?

I am proud of all my awards. They do not change your life, but bring a lot of pleasure. I am genuinely delighted that medical genetics as a science has been so highly evaluated by the Presidential Decree. For the first time in Lithuania, the achievements of a particular person in this field of science and the development of the particular area in healthcare have been evaluated at the highest state level. Undoubtedly, I have put a lot of effort into developing the history of medical genetics in Lithuania. Together with my many colleagues, we started everything from scratch.

The famous Biologist Edward Osborn Wilson once said that each person is shaped by interactions between their genes and their environment, especially culture. What factors do you think have determined your professional vocation? How would you assess the impact of school and the historical socio-cultural context on your personality?

The question is indeed complex, although, of course, we could pinpoint some key factors that determine human destiny. However, it is not all as simple as the famous biologist imagined. When scientists explore the inheritance of intellectual abilities or various inclinations of a person, they always try to separate cultural, biological and genetic heritage. Genetic heritage is the unique physical information recorded in our DNA. This is the information passed from parents to children via genes and their various combinations (the number of which is infinite). In reality we do not yet know how everything is passed from generation to generation. We only know the basic laws and each year we discover something new.

The environment in which you grow up is something other than the DNA code. First of all, you are formed by your family, later by your school and university. Everything that surrounds you is very important, including how you are brought up. A very good example is how Jews bring up their children. From a very young age the personality of the child is nurtured, he is taught to read, write, develop his unique abilities, etc. No such rules for bringing up children were formed from ancient times in the Lithuanian nation. Now it is fashionable to educate a child, however, this is not a tradition that has penetrated the consciousness of our nation for centuries. It is regrettable that in cultural terms, the history of our nation does not have deep roots and is full of tragic events. It has been shaped by hundreds of years of occupation under the influence of other nations, languages and cultures. The real national revival and formation of the nation’s consciousness began only after the establishment of the independent state of Lithuania.

I personally was also influenced by the experiences of my ancestors, family members and people who surrounded me in various historical periods. My great-grandparents emigrated to America and then returned. I have studied the roots of my family across history and in changing political, cultural and economic conditions. Like many families in Lithuania, my family has had good and bad experiences.

I was born in 1947, after the war, in a special place – the ethnographic area of Sūduva. Both my parents died and I was raised by my uncle who was a deportee (to Siberia). I grew up near Marijampolė, in a beautiful location near the River Šešupė, close to a forest. At the time it was a difficult period – people were hiding in the forest and needed our help. As a result, the family was constantly involved in various situations and had to suffer severe consequences. My relationship with my relations has always been very strong. I can see many emotional similarities with my childhood and youth experiences – the genome of my childhood – in the short story by Aleksandr Solzhenitsyn, the Nobel Prize winner, One Day in the Life of Ivan Denisovich.

As far as I remember, I have always been proactive. This is important. The scientist needs initiative and creativity. I recently met an old classmate, who is also a professor and who commented: “I’ve been thinking how to describe you? You are creative”. Indeed I am. I have always been involved in different activities such as sports, art and music, that had no connection with my future work as a geneticist. I did not always have time for education in my childhood.

Your relationship with Vilnius University is very close. This is where your “scientific genealogy” started. How did you get interested in genetics?

I have been learning all my life. I hesitated a little in choosing between zoology and biochemistry or perhaps genetics (at that time there was no such subject in Lithuania). In 1967, when I started my studies at VU I became interested in genetics. A year later I received my first award for research of cancer cells. A turning point in my life was an opportunity to improve my knowledge at research and study institutions in Moscow (in one of them they did research on astronauts). That was the start of a long period in my life and could be considered the beginning of medical genetics in Lithuania.

After graduation from VU, I was appointed to the then Vilnius Red Cross Hospital which was of a hospital of the national importance. I was the first person in Lithuania to be paid for the development of practical genetics. There was a lot of focus on the science of genetics in the USSR at that time and a research topic was suggested to me. I defended my habilitation doctoral thesis in biomedical sciences in the field of population genetics. I was the first not only in Lithuania, but also in the world to apply new calculation methods and theories in my thesis. The theory that disease was triggered by a certain number of accumulated genes and their contact with the environment was new at that time.

In 1975, I realized I needed to start a general screening of new-borns for phenylketonuria (PKU) (this was performed abroad, but not in the USSR). Phenylketonuria is an inherited metabolic disease that causes severe physical and intellectual disability. It is one of the most frequent hereditary metabolic diseases, yet its incidence varies from country to country. We started testing new-borns, which was a completely new thing in Lithuania, and we were the first to do so in the USSR. I wasn’t even 30 at the time. Not everyone was in favour of the test. Our idea was supported by pediatricians in Lithuania and, most importantly, by the then Minister of Health Vytautas Kleiza, who said: “I’ll come to check what you are doing there”. I remember well, he came to the laboratory on Saturday and gave his “blessing” to our activities.

In that period, a genetic counselling institution and a laboratory were established at the Red Cross Hospital. In 1977, I established a scientific medical genetics lab at the Research Institute for Experimental and Clinical Medicine and was in charge of it. Later, in 1985, it was transferred to the newly established Maternal and Child Healthcare Research Institute. I put a lot of effort into building a practical genetic counselling system in Lithuania. I am grateful to everyone who helped me.

At the same time, I was also doing my own research. I had to perform lots of calculations based on various mathematical formulae. Disease prediction is the true theory of probabilities in genetics. As a result of my studies in population genetics, I completed my second round of studies at Vilnius University, the Faculty of Mathematics. In 1987, I defended my habilitation doctoral thesis in biomedical science (genetics) on the dynamics of the genetic structure of the Lithuanian population researching developed agricultural human populations. I prepared my thesis at the Institute of Medical Genetics of the USSR Academy of Medical Sciences and the Institute of General Genetics (Moscow).

In 1990, a third period in my life began. With the restoration of Independence in Lithuania, I started working at VU MF. The Human Genetics Centre (Department) was established here and I became the head of the centre. I was the first to start a course on medical genetics, I initiated international cooperation projects and did research abroad.

My first article in the prestigious international scientific journal, Human Genetics, was published in 1991. We studied the PKU gene in Lithuanian patients. Finally, we developed a theory that there were two independent origins of PKU in Europe: Celtic and Baltic-Slavic. We put forward a hypothesis that during the times of the Grand Duchy of Lithuania, Baltic or Slavic populations spread the PKU gene in Eastern Europe. This was the first significant work in this area.

My second work, which to date has been the most cited globally, was published in 1994 and was dedicated to AIDS research. In 1992, I had the honour to be a visiting scientist at the prestigious US research centre, the National Cancer Institute. In 1993, I did my research at the Medical Genetics Department of the University of Umeå in Sweden. My “boss” was Prof. Lars Beckman, one of the world’s leading professionals in human population genetics. Together with him and other colleagues we were co-authors of an article on the genetic factors of AIDS, which determine the function of T-cell receptors (to which the virus is attached). We have demonstrated that resistance to the virus is due to a certain mutation in the gene. Lithuanians have one of the highest prevalences of this mutation.

Every scientific achievement is a new page in the medical history of Lithuania and the world. I would like to mention one more important discovery. By studying the human genome in a variety of ways we have improved our understanding of rare diseases (i.e. with only 10 affected individuals worldwide). This was a very significant joint project with Swiss colleagues from Lausanne.

In Lithuania, I worked closely with Prof. Gintautas Česnys, the then Dean of VU MF (until his death). Using the results of the genome studies we tried to solve the problems of ethnogenesis of Lithuanians, i.e. the formation of an ethnic community from a larger group or a transformation of individual ethnic groups into one group. We developed an excellent friendship in additional to our successful professional relationship.

It is difficult to describe everything, but in Lithuania both my career path and the history of medical genetics have been changeable. I have had to overcome a number of challenges, however each achievement inspired me. I became a real member of the Lithuanian Academy of Sciences, a laureate of the Lithuanian Science Prize. For many years I have worked as an expert for the European Commission in research evaluation procedures. I was a member of the Collegium of Evaluators. The list could go on and on.

The annual Medical Genetics Awareness Week calls us to celebrate the contributions of the entire medical genetics team to patient care and public health. What is special about the profession of geneticist?

This is the first time that Medical Genetics Awareness Week will be celebrated in Lithuania. The week will be full of events aimed at better understanding the work and future prospects of our genetics professionals and enthusiasts. Geneticists not only play a significant role in the control of genetic diseases, they also dedicate their efforts to health protection and disease prevention, and inform the public about genes, their health effects and threats. There are many “professions of the future” in the world. The profession of a geneticist can be characterised by its special mission. Our goal is a healthy and happy life for the current population and for future generations.

I am pleased that we have managed to do a great deal in cooperation with public and patient organizations. In 1991, we established the Lithuanian Society of Human Genetics. This year it will celebrate its 30th anniversary. We have also established the patient society “Viltis” attached to the Lithuanian Society of Human Genetics.

Japanese writer Haruki Murakami, raises the question that the genes may be utilizing us “for some greater purpose?” How would you answer this question based on your experience, wishes and dreams for the future as an experienced creator of genetics?

In every science there are “games” thanks to which the science is moving forward. I do not know if our genes use us for their purposes, but I think this is a great topic for new research! However, I believe that human happiness really depends on both one’s genes and one’s luck. Although the history of medical genetics shows that our genes are also a matter of luck. In my professional life, there was really a lot of luck. My road to success was paved by my ability to make an impression in achieving my goal, to make people trust me. The achievements of genetics really make an impression on humanity. We must do a lot more work to ensure that people believe in us and our science. A lot of work.

I am delighted that my dreams have come true. I was not alone. There have always been like-minded people alongside me. I am equally grateful for the support and criticism of all the people I have happened to meet in my life. And special words of thanks must be said to my wife, Zita Aušrelė Kučinskienė. My greatest desire is that the whole history of Lithuanian medical genetics will have its fans, enthusiasts and followers. That the world of genes that always delivers more secrets than answers, will continue to excite everyone across the world, inspiring not only scientists, but also artists.