Reflections on the 7th course Basics in Human Genetic Diagnostics – A course for Clinical Laboratory Geneticists in education by 2 of the participants

Dr. Erinija Pranckevi?ien?, Instructor and researcher in bio and medical informatics, Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Lithuania

The seventh European Human Genetics Society (ESHG) course on Basics in Human Genetic Diagnostics organized by Faculty of Medicine, University of Coimbra and CIMAGO – Centre of Investigation in Environment, Genetics and Oncobiology took place on September 2-6, 2024 in Figueira da Foz, Portugal.?

The main organizers of the course were Prof. Isabel M. Carreira, Prof. Joana B. Melo, Dr. Mariana Val, a team from Faculty of Medicine, University of Coimbra and Prof. Thomas Liehr from Jena University, Germany. The organizers prepared a very rich course program covering a wide range of essential subjects in human genetic diagnostics – cytogenetics, molecular genetics, types of genomic alterations in relation to the disease, variant interpretation, next generation sequencing and novel genome analysis technologies for diagnostics of genetic disorders. We listened to 16 presenters from 11 organizations. Course was delivered in person with some lectures online. All materials were made available to the participants in addition to the high technical level and expertise of the lecturers who shared their knowledge with the course attendees.

The 37 course attendees came from 24 countries: Latvia, Portugal, Morocco, Thailand, Qatar, Cyprus, Lithuania, Turkey,? Romania, Ireland, Finland, Poland, Greece, Spain, Bosnia and Herzegovina, Bulgaria, United Arab Emirates, Netherlands, Serbia, Austria, Hong Kong, Croatia, Italy, Libya. Each day was filled with presentations starting 9:15 am and ending the full day by a written test. The course setup and venue encouraged informal discussions and very friendly atmosphere. In addition, we had a wonderful cultural program – an excursion to one of the an oldest in Europe University of Coimbra and a functioning medieval library at the university founded by a King John the Third of Portugal (1502-1557) followed by a dinner in a beautiful restaurant close to the famous Saint Clara convent.

The course was mainly attended by the laboratory geneticists, genetic counselors, medical geneticists and medical doctors. A few bioinformaticians attended the course, the author of this essay was one of them. Bioinformaticians, who help to develop computational pipelines for analysis of genomic alterations based on the next generation sequencing data have to understand the field of practice of specialists whom they help. In this regard the course superseded our expectations. The overview of molecular genetics and array comparative genome hybridization (CGH) by Prof. Joana Melo and topics covered by Dr. Luis Miguel Pires on variant interpretation and noninvasive prenatal diagnostics and Dr. Ilda Ribeiro on biological and gene-specific databases were particularly useful.

A big part of the course was devoted to cytogenetics. The workshops really helped to understand karyotype and large chromosomal rearrangements. Especially useful, and I believe enjoyed by many of us was a Day 2 afternoon workshop supervised by Prof Isabel Carreira: Identify human chromosomes on a metaphase picture, plus working package to cut and glue a karyogram. Six groups of participants received a picture of chromosomes that were affected by a syndrome that we had to identify by cutting and sorting chromosomes into the karyogram and to recognize altered chromosomes from their length and binding pattern. Images show how the workshop participants are very focused working on the presented problem. During the workshop invited medical geneticists’ MDs from the Coimbra Children’s hospital were helping us to figure the right karyogram, to identify the altered chromosomes and to solve the case.

A special acknowledgment? can be given to Prof. Thomas Liehr for his lectures and printed handbook materials. The basics of human genetics, Mendelian and non-Mendelian inheritance with the historical discourse were presented in a condensed manner, very clearly. Similarly, Prof. Thomas lectures on teratology, gene therapy, tumor cytogenetics, repetitive elements and epigenetic mechanisms of uniparental disomy and imprinting presented us with the current up to date information with regards to these subjects.

Attending the ESHG seventh course Basics in Human Genetic Diagnostics was a very positive and enriching experience. Written test of 20-24 questions at the end of each day really helped to focus and memorize the essence of each covered topic. Many thanks to the organizers! No doubt that this course is one of the best short courses in the field of Human Genetic Diagnostics.

Panayiotis Myrianthopoulos, Cytogeneticist, Molecular cytogeneticist, Department of Cytogenetics & Genomics, The Cyprus Institute of Neurology & Genetics

It is with great pleasure that I participated in the 7th course of Human Genetics Diagnostics – A course for Clinical Laboratory Geneticists in education. This course serves as a comprehensive introduction to the field of genetic diagnostics, covering a wide range of genetic techniques and diagnostic approaches.

The course provides a structured journey through the field of genetic diagnosis, beginning with conventional methods such as karyotyping and culminating in advanced techniques like Next-Generation Sequencing (NGS). The underlying concept of this course is that genetic diagnostics is a complex and evolving field, where the equation "one plus one is not always two" aptly describes the variability and complexity of cytogenetics, molecular cytogenetics, and molecular genetics. Specialized and thorough training is essential for clinical laboratory geneticists, as understanding the mechanisms behind various genetic diseases is crucial for accurate diagnosis.

We are fortunate to live in an era where technological advancements allow us to investigate deeper into the human genome, enabling us to uncover information that was once beyond our reach. For patients and their families, a definitive diagnosis is of paramount importance—it provides them with a sense of connection, allowing them to find others with the same genetic condition and seek guidance and support. As Dr. Carreira rightly noted during the course, the most knowledgeable individuals about a genetic disease are often the families themselves. They live with the condition daily, understand its progression, and navigate the challenges posed by its phenotypic characteristics.

Participating in this course significantly enhanced my knowledge in clinical genetic diagnostics. The course offered valuable insights into the latest advancements in the field and provided a glimpse into the promising direction in which we are headed. One of the course's highlights was the opportunity to network with fellow professionals, exchanging ideas about unique cases we encountered in our respective laboratories. It was particularly enlightening to learn how different laboratories operate and the various regulations they must adhere to, given the diverse cultural and national approaches to genetic diagnostics.

I highly recommend this course to colleagues, especially those specializing in cytogenetics, molecular cytogenetics, and molecular genetics. It serves as a valuable benchmark for assessing one's readiness for the European Registered Clinical Laboratory Geneticists (ErCLG) certification. While the course may be challenging, particularly with the daily examinations, it provides an excellent opportunity for self-assessment and growth.

Finally, I would like to extend my sincere gratitude to the course organizers. Their meticulous planning and dedication ensured that the course was of the highest standard, and their willingness to share their knowledge and expertise with participants was truly commendable. I am confident that this high standard will continue in the upcoming courses, given the organizers' passion and commitment to advancing the field of genetic diagnostics.