Report from the Sixth course Basics in human genetic diagnostics – a course for Clinical Laboratory Geneticists (CLGs) in education

Prepublication (to be published in ESGH newsletter 2023/2024) of a short Report on the event in Figueira da Foz, Portugal, September 04-08, 2023

by Katarina Zeljic, Associate professor at the Faculty of Biology – University of Belgrade, Belgrade, Serbia

For the 6th time, the course “Basics in human genetics diagnostics – a course for Clinical Laboratory Geneticists (CLGs) in education” was organized in early September, 04-08. 2023. The course took place in the beautiful coastal town of Figueira da Foz in Portugal.

The course was organized by Professor Isabel Carreira, Professor Joana B. Melo and Dr. Susana Ferreira, all from the Faculty of Medicine - University of Coimbra, Portugal in collaboration with Professor Thomas Liehr from the University of Jena, Germany. The European Society of Human Genetics (ESHG) actively supported the organization of the course, and also offered limited number of fellowships to cover the course registration fee and part of travel expenses. Other but also important, main sponsors were: Agilent Technologies (California, USA), Bionano Genomics (California, USA), Camara Municipal Figueira da Foz (Portugal), MRC-Holland (Amsterdam, Netherlands), Ordem dos Biólogos (Portugal), Soquímica (Portugal) and ZytoVision (Bremerhaven, Germany). The participants, 50 of them, came from different parts of the world: Australia, Bulgaria, Ecuador, Greece, Hungary, Latvia, Morocco, Palma, Portugal, Romania, Serbia, Sweden, Tunisia UK and USA. I was one of them, and the same profession of human geneticists, eagerness to learn more and exchange experiences, united us all. Since regulations in different countries in human genetics diagnostics are diverse, there was possibility to find out how the CLGs sector is organized throughout Europe and the world.

The program was packed and very well organized, and attention was paid to every minute of the program. The topics were diverse and ranged from classical banding cytogenetics, to molecular cytogenetics and state-of-the-art Next Generation Sequencing (NGS). Each day, different aspects of medical genetics were covered in the form of ex catedra lectures and workshops. After the whole day a written test was organized, to evaluate and apply the acquired knowledge of the particular day of the course. To receive a certificate of successful completion of the course, we had to achieve more than 50% on each written test. Each new day began with the resolution of the test from the day before, which we eagerly awaited. The first day of the course was dedicated to historical aspects of human genetics, development of different level of analysis of human genetic material, syndromology, basics of genetic counseling and risk calculations. During the workshop, we conducted our own risk assessment using Bayesian probability and testing it in different pedigree cases. The second day continued with banding cytogenetics, teratology and molecular cytogenetics with emphasis on Fluorescence In Situ Hybridization (FISH). We worked in groups to create human karyotypes of various chromosomal syndromes as part of the workshop. This workshop was extremely easy for those who have experience with cytogenetics, but at the same time it was a difficult topic for molecular geneticists. The third day started with lectures about gene therapy, tumor cytogenetics, repetitive elements, epigenetics, followed by Comparative Genome Hybridization (CGH) and array-CGH and extremely important issue about reporting in cytogenetics in accordance to guidelines. During the workshop we learned how to interpret array-CGH data. On the same day, an excursion was organized to the nearby city of Coimbra, where we visited the University complex with its magnificent library and church, but also the former student prison. The day ended with a dinner in a restaurant with a beautiful view over the whole city of Coimbra. The fourth day of the course was completely dedicated to molecular genetics, MLPA, Sanger sequencing and NGS from theoretical aspects to application. On the last day, we talked about cancer genetics, inborn errors of metabolism, and the Non-Invasive Prenatal screening Test (NIPT), its advances, challenges and ethical issues. At the end of the course, participants had the opportunity to express their praise and criticism using the course evaluation form. Taking altogether, during the five days a long way was covered from the insight into the work of a cytogenetics, molecular cytogeneticist to a molecular geneticist. Professor Isabel Carreira informed participants about the European Certificate for CLGs, developed by European Board of Medical Genetics, and the requirements for taking the exam for the certificate (https://www.ebmg.eu/clg.0.html).

The coffee and lunch breaks were ideal to meet attendees in person, exchange ideas and discuss with other participants, but also with the lecturers. It is never enough time for vivid discussions, but we have contacts of each other, so continual communication is always possible. Even though most of the time was spent in classes, there was still time after the lectures to take a breath and enjoy the tranquility of the Atlantic Ocean beach. A short trip to Coimbra, one of the oldest University city not only in Portugal but in all of Europe and the world, took our breath away and we enjoyed the free time and the farewell dinner. Full of energy (even though a bit tired), with new professional contacts, and encouraged to continue our professional paths, we left Portugal with the hope of seeing each other again.

On behalf of the participants of the 6th course “Basics in Human Genetic Diagnostics course – a course for CLGs in education”, I would like to thank the organizers for their energy, large portion of knowledge and selfless sharing of knowledge and experience. It is hoped that this course will continue to be organized for new generations of CLGs in the future.