The Role of the European Society of Human Genetics in Delivering Genomic Education

Tobias, Edward S.; Avram, Elena; Calapod, Patricia; Cordier, Christophe; Dunnen, Johan T. den; Ding, Can; Dolžan, Vita; Douzgou, Sofia; Lynch, Sally Ann; O’Byrne, James J.; Patsalis, Philippos C.; Prokopenko, Inga; Soares, Célia Azevedo; Tobias, Adam P.; Newman, William G.

doi:10.3389/fgene.2021.693952

Cited by 7 publications

(7 citation statements)

References 9 publications

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“…The EuroGEMS website provides impressive digital educational resources related to genetics and genomics. The online material is addressed to genetic specialists, non-genetics professionals, students and the public [ 3 , 4 ]. The ESHG-Y Committee had a supportive role by contributing to the ongoing EUROGEMs.org translation into Portuguese and French which will increase access from Portuguese and French-speaking countries.…”

Section: Advocating For Equal Access To Educational Opportunitiesmentioning

confidence: 99%

“…To further promote our activities a joint manuscript (2022) from the YGN and ESHG-Y Committee was published in the European Journal of Human Genetics, a journal with broad international readership [ 2 ]. This helped to highlight, together with a previous publication from ESHG (2021) that included members of the ESHG-Y Committee, the importance of our organization in delivering genomic education and promoting the young generation [ 4 ].…”

Section: Creating a Professional Network Of Young Human Geneticistsmentioning

confidence: 99%

“…European Society of Human Genetics-Young Committee, Vienna, Austria 3. Institute of HumanGenetics, Universitätsmedizin Mainz, Mainz, Germany 4.…”

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confidence: 99%

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The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022

Avram

Ding²,

Noor³

et al. 2023

Eur J Hum Genet

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The European Society of Human Genetics-Young Committee (ESHG-Y) aims to support young human geneticists by developing strategies and programs for better education and creating a strong network in all European countries. In this report, we present the ESHG-Y projects conducted since its conception. We organized the educational sessions at the ESHG Annual Conference, the European Dysmorphology Meetings, and a virtual session in collaboration with the European Board of Medical Genetics (EBMG). Also, the ESHG-Y regularly promotes relevant activities and succeeded in creating an active network of young geneticists. Our representatives have a supportive role in well-known organizations such as: ESHG Board, ESHG Scientific Program Committee, ESHG Education Committee, EBMG, ERN-Ithaca, Unique -Rare Chromosome Disorder Support group, Orphanet, EuroGEMS, MOOC BIG and more. Taking into consideration all activities and ongoing projects, we can state that the ESHG-Y successfully achieves its objectives and brings young professionals together.

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Section: Advocating For Equal Access To Educational Opportunitiesmentioning

confidence: 99%

Section: Creating a Professional Network Of Young Human Geneticistsmentioning

confidence: 99%

See 1 more Smart Citation

The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022

Avram

Ding²,

Noor³

et al. 2023

Eur J Hum Genet

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“…Unfortunately, the reality is so far from this ambitious goal that, actually, achieving a diagnosis is a road riddled with dark sides and pitfalls. Alongside the consolidated literature about the economic burden and the impact on the quality of life of patients affected with a chronic illness [6][7][8][9], the ethical, legal, social, and psychological implications (ELSI and ELPAG) of RD are now a growing issue in medicine and genomic research, as evidenced by the widespread initiatives on ELSI and ELPAG research supported by human genetics scientific societies [10][11][12] and other international research programs, such as the ELSI Research Program at the National Human Genome Research Institute [13]. Numerous initiatives are available with strong educational components to provide genomic education to healthcare professionals and empower patients and associations.…”

Section: Introductionmentioning

confidence: 99%

The Right to Ask, the Need to Answer—When Patients Meet Research: How to Cope with Time

Priolo

Tartaglia

2023

IJERPH

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Reaching a diagnosis and its communication are two of the most meaningful events in the physician–patient relationship. When facing a disease, most of the patients’ expectations rely on the hope that their clinicians would be able to understand the cause of their illness and eventually end it. Rare diseases are a peculiar subset of conditions in which the search for a diagnosis might reveal a long and painful journey scattered by doubts and requiring, in most cases, a long waiting time. For many individuals affected by a rare disease, turning to research might represent their last chance to obtain an answer to their questions. Time is the worst enemy, threatening to disrupt the fragile balance among affected individuals, their referring physicians, and researchers. It is consuming at all levels, draining economic, emotional, and social resources, and triggering unpredictable reactions in each stakeholder group. Managing waiting time is one of the most burdensome tasks for all the parties playing a role in the search for a diagnosis: the patients and their referring physicians urge to obtain a diagnosis in order to know the condition they are dealing with and establish proper management, respectively. On the other hand, researchers need to be objective and scientifically act to give a rigorous answer to their demands. While moving towards the same goal, patients, clinicians, and researchers might have different expectations and perceive the same waiting time as differently hard or tolerable. The lack of information on mutual needs and the absence of effective communication among the parties are the most common mechanisms of the failure of the therapeutic alliance that risk compromising the common goal of a proper diagnosis. In the landscape of modern medicine that goes faster and claims high standards of cure, rare diseases represent an exception where physicians and researchers should learn to cope with time in order to care for patients.

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“…Moreover, the integration of the fascinating advancements in the development of genetic and genomic testing methods into various parts of medicine occurs at an accelerated pace. Therefore, most countries in Europe, especially Western Europe, have long recognised not only the importance of introducing medical and laboratory genetics as separate medical specialties, but have also put effort into raising the level of genetic literacy among medical students as the future health professionals who will be involved in the care of patients with genetic disorders ( Tobias et al, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages

et al. 2022

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Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and Herzegovina, Croatia, Montenegro, North Macedonia, Serbia, and Slovenia).Materials and Methods: The study was conducted from June to September 2021. One representative from each country was invited to collect and interpret the data for all medical faculties in their respective country. All representatives filled a questionnaire, which consisted of two sets of questions. The first set of questions was factual and contained specific questions about medical faculties and design of compulsory courses, whereas the second set of questions was more subjective and inquired the opinion of the representatives about mandatory education in clinical medical genetics in their countries and internationally. In addition, full course syllabi were analysed for course aims, learning outcomes, course content, methods for student evaluation and literature.Results: Detailed analysis was performed for a total of 22 medical faculties in Bosnia and Herzegovina (6), Croatia (4), Montenegro (1), North Macedonia (3), Serbia (6), and Slovenia (2). All but the two medical faculties in Slovenia offer either compulsory courses in basic education in human genetics (16 faculties/courses) or clinical education in medical genetics (3 faculties/courses). On the other hand, only the medical faculty in Montenegro offers both types of education, including one course in basic education in human genetics and one in clinical education in medical genetics. Most of the basic courses in human genetics have similar aims, learning outcomes and content. Conversely, clinical courses in medical genetics are similar concerning study year position, number of contact hours, ECTS (European Credit Transfer and Accumulation System) and contents, but vary considerably regarding aims, learning outcomes, ratio of types of classes, teaching methods and student evaluation.Conclusion: Our results emphasise the need for future collaboration in reaching a consensus on medical genetics education in Balkan countries with Slavic languages. Further research warrants the analysis of performance of basic courses, as well as introducing clinical courses in medical genetics to higher years of study across Balkan countries.

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The Role of the European Society of Human Genetics in Delivering Genomic Education

Cited by 7 publications

References 9 publications

The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022

The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022

The Right to Ask, the Need to Answer—When Patients Meet Research: How to Cope with Time

Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages

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