Basic and Advanced Course in Genetic Counselling

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Basic and Advanced Course in Genetic Counselling
Bertinoro, Italy, April 20 -24, 2018 Bertinoro University Residential Centre
Via Frangipane, 6 – Bertinoro, Italy
Course Directors:
F. Forzano (Clinical Genetics Department Guy's & St Thomas' NHS Foundation Trust London UK), Giovanni Romeo (European School of Genetic Medicine and Univ.Bologna, Italy) A. Tibben (Dept of Clinical Genetics, LUMC, Leiden, the Netherlands)

Basic and Advanced Course in Genetic Counselling
Bertinoro, Italy, April 20-24











Friday, April 20th – BASIC

9.00 – 9.10

Introduction to the course F. Forzano, A. Tibben

9.10 – 9.30

The 30 years of the European School of Genetic Medicine ESGM G. Romeo

9.30 – 10.15


10.15 – 11.00 11.00-11.30 11.30-12.20 12.20-13.20 13.20-14.30

Cytogenetics and Molecular Genetics: past, present and future J. Baptista
Coffee Break
Genetics of intellectual disability F. Forzano
The Genetic Laboratory: instructional book M. Iascone
Lunch break

Afternoon Session:


Basic concepts on dysmorphology F. Forzano


Genetic services: aims, process, outcomes. Setting the agenda C. Patch & Z. Bruwer

16.15 – 16.45

Coffee break

16.45 – 18.15

Workshops session:



Saturday, April 21st – BASIC

9.00 – 10.30

Workshops session:


10.30 – 11.00

Coffee Break

11.00 – 12.00

Cancer genetics: scenarios and issues D. Turchetti

12.00 – 13.00

Prenatal diagnosis: scenarios and issues F. Forzano

13.00 – 14.30

Lunch Break

Afternoon Session:

14.30 – 15.30

Practical ethics: consent, confidentially and disclosure C. Patch


Coffee Break

16.00 – 18.00

Workshops session:


Sunday, April 22nd – BASIC & CROSSOVER

9.00 – 11.00

Workshops session:


11.00 – 11.30

Coffee Break

11.30 – 12.30 12.30 – 13.15 13.15-14.30

Introduction to the course and Revision of basic Patient-Centered counselling skills A. Tibben
Skills practice (I) A. Tibben
Lunch Break 4

14.30 – 15.45 15.45-21.00

Skills practice (II) All Faculty
Social event tbd

Monday, April 23rd – ADVANCED

9.00 – 9.45 9.45 – 10.45

Counselling for predictive testing A. Tibben
Discussion of difficult cases brought by students All faculty


Coffee break

11:15 –12.30

Skills Practice (III) All faculty

12.30 – 14.00

Lunch break

Afternoon Session:

14.00 –14.45

Breaking the news: theory A. Tibben

15.45 – 16.15 16.30 –17.30

Skills practice (IV) Breaking the news A. Tibben
Coffee break
Family dynamics: theory and awareness E. Razzaboni


Tuesday, April 24th – ADVANCED

9.00 – 9.30
9.30 – 10.15 10.15-10.40 10.40-11.00

Genetic testing in children (recommendations, legal frameworks and specific counselling issues C. Patch
Cross cultural issues Z. Bruwer
Grief and loss experiental exercises A. Tibben
Coffee break

11:00 –12.15 12.15 – 12.30 12.30-14.00

Grief and loss experiential exercises All faculty
Evaluation, closing remarks, farewell F. Forzano, G. Romeo, A. Tibben
Lunch and departure


The 30 years of the European School of Genetic Medicine
G. Romeo European Schoool of Human Genetic Medicine and Alma Mater Studiorum Università di Bologna, Italy This year is the 30th anniversary of the foundation of the European School of Genetic Medicine (ESGM) which was started in 1988 in Sestri Levante (Italy). In order to get a feeling of the origin and past history of the European School of Genetic Medicine you can read the article below which highlights the role of Victor A. Mckusick, one of its main founders. He passed away 10 years ago, on July 22, 2008. The accompanying picture shows Victor together with his wife Anne when he received the Japan Prize from the Emperor of Japan a few months before his death. Anne, a faculty at Johns Hopkins Hospital and a distinguished rheumatologist, was attending all the courses together with Victor between 1988 and 2007. She passed away on September 17, 2017. We miss them both.

European Journal of Human Genetics (2017) 25, S6–S12
& 2017 European Society of Human Genetics All rights reserved 1018-4813/17
The early years of the ESHG leading to the reform of 1988 and the spirit of the Sestri Levante school
Giovanni Romeo*,1, Eberhard Passarge2 and Albert de la Chapelle3
European Journal of Human Genetics (2017) 25, S6–S12; doi:10.1038/ejhg.2017.142

At the Third International Congress of Human Genetics in Chicago in September 1966 a group of human geneticists from Europe met and agreed that there should be a European Society of Human Genetics (ESHG). This was formally established in 1967, as reviewed elsewhere in this issue by Peter S Harper. As two of us (EP and AdlC) attended the discussion in 1966 and all three were involved subsequently in the early development of the ESHG we would like to add a few comments. Following its first annual meeting in 1967 in Copenhagen, the ESHG held meetings each year in various European cities arranged by different colleagues as local hosts, but not yet organised as a scientific society comparable to the American Society of Human Genetics.
At the 1988 ESHG meeting in Cardiff a process to reform the Society was started as described by Brunner and Harper in this issue of the Journal (EJHG, 2017). In April of the same year 108 young geneticists from 16 European countries travelled to Sestri Levante, Italy, to attend the first week-long course in Medical Genetics, taught by the late Victor A McKusick (1921–2008) and by many of the European medical geneticists of the time (see Figures 1 and 2).
The model for this course was the ‘Short Course in Medical and Mammalian Genetics’ held in Bar Harbor, Maine, organised each year

by Victor A McKusick and attended in 1968 by some young European participants, including the three of us. The support of the Istituto Gaslini (Genoa) and of the Federation of European Societies of Biochemistry (FEBS) made it possible to start the European equivalent of the Bar Harbor course 20 years later; this was quite labour-intensive as shown by its tight scientific schedule (Figure 3), consisting of morning lectures and afternoon practical workshops (but also characterized by long lunch breaks of about 2 h dedicated to the delicacies of Genoese cuisine…).
During subsequent years this model developed further into many more specialised courses (Cancer Genetics, Genetic Counselling, Molecular Cytogenetics, Eye Genetics, etc.) that became to be known as the European School of Genetic Medicine (ESGM). The 30th edition of the main ESGM course took place at the beginning of May 2017 in Bertinoro, Italy, with the new name ‘Clinical Genomics and NGS’. It was attended by 89 students from all over the world (37 countries, Figure 4). Most of the ESGM courses have been supported consistently by ESHG fellowships. In what is more relevant for the history of ESHG, some of the highly motivated faculty of the 1988 course became the leaders of the reformed ESHG in later years, after the new statutes

Figure 1
1University of Bologna, Department of Medical and Surgical Sciences, Bologna, Italy; 2Universität Duisburg-Essen, Institut für Humangenetik, Hufelandstr, Duitsland; 3Human Cancer Genetics Program, The Ohio State University, Columbus, Ohio, USA E-mail: [email protected]

Spirit of the Sestri Levante school G Romeo et al

Figure 2

proposed by a committee consisting of Christos Bartsocas, Charles Buys, Marco Fraccaro, Peter Harper, Jan Mohr, Anne de Paepe and Eberhard Passarge) were approved and implemented in 1991 at the Leuven meeting where one of us (GR) took office as the first democratically elected ESHG President and went on to found the EJHG the following year. We have placed so much emphasis on the ESGM courses because we believe that the reform and expansion of the Society became possible in part through these courses, which enabled so many people to become acquainted with each other, breaking down national, regional and linguistic barriers.
Initially Jan Mohr, the founding secretary-general, contacted one of us (EP) in 1987 and suggested that he should take over as secretary-general in due time. Such a change appeared to be a good opportunity to make the ESHG more democratic and inclusive by electing a board (president, president-elect, secretary-general) and a programme committee. Sup-ported by Peter Harper at the 1988 Cardiff meeting, the newly elected board took office in 1989 at the meeting in Groningen organised by Charles Buys (once again described by Peter Harper). All this happened at a time when Europe was going through great political changes—namely the fall of the Berlin Wall in November 1989, which led to the unification of East and West Germany in 1990, and the signing of major European treaties, such as Maastricht in 1993. It was a time of great enthusiasm and popular approval for the idea of building the European Union (EU) and implementing reforms, which for the first time in our history were being accomplished through peace and diplomacy.
In this climate of changes our small community of scientists was transformed into a democratic society of medical and clinical geneticists. We sometimes ask ourselves: was this achievement worth

the time and effort invested in it? Among other indicators which can be used to answer this question, there is a simple observation based on the breakdown of students attending the main ESGM course in 1988 versus 2017 (Figures 1 and 4 respectively). This comparison docu-ments the success of ESHG in supporting programmes of advanced training in medical and clinical genetics that today are no longer limited to Europe but attract young geneticists from all over the world. This is a tangible result which shows that the reformed ESHG is having a tremendous impact on the practice and research in medical genetics far beyond Europe. The spirit that animated the European School of Genetic Medicine since its early days in Sestri Levante probably imprinted many young geneticists like Brunhilde Wirth (a student in the course of 1988; Figure 2) and Han Brunner (a young faculty member since the early ’90s) who later became the driving force of the main ESGM course.
In conclusion, the reform of ESHG was useful, as evidenced by the universal acceptance and recognition of the Society’s role in medicine and genetics. The success of the ESHG today is also shown by its excellent annual meetings under the guidance of its programme committee, and by its Journal that serves to unite geneticists from all over Europe and to let the rest of the world know what is happening in Europe. The three authors of this review were actively involved in the transformation of the ESHG from a somewhat loosely organized association to a well-organised scientific society in the late 1980s and early 1990s. AdlC and GR served as presidents during that period, EP as secretary-general, all elected by the membership assembly at annual meetings. During his Presidency GR founded the Journal, which he directed until 1995.

European Journal of Human Genetics

Spirit of the Sestri Levante school G Romeo et al
Figure 3

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Basic and Advanced Course in Genetic Counselling