国家临床遗传网络- GENets -丹麦专家合作的建立。

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY European journal of medical genetics Pub Date : 2023-11-13 DOI:10.1016/j.ejmg.2023.104872
Dorte L. Lildballe , Anja Lisbeth Frederiksen , Bitten Schönewolf-Greulich , Charlotte Brasch-Andersen , Charlotte Kvist Lautrup , Helena Gásdal Karstensen , Inge Søkilde Pedersen , Lone Sunde , Lotte Risom , Maria Rasmussen , Mette Bertelsen , Mette Klarskov Andersen , Nanna Dahl Rendtorff , Pernille Axél Gregersen , Pernille M. Tørring , Sophia Hammer-Hansen , Susanne E. Boonen , Suzanne Granhøj Lindquist , Trine Bjørg Hammer , Birgitte R. Diness
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引用次数: 0

摘要

遗传疾病通常是家族性的,但并不是所有的亲属都从同一家机构接受咨询。因此,有必要确保不同解释、咨询实践和临床随访在卫生保健提供者之间的一致性。此外,随着基因特异性治疗的出现和全基因组测序的广泛应用,临床实验室遗传学家和临床遗传学医学专家之间有效的数据处理和知识共享变得越来越重要。在丹麦,通过建立称为遗传专家网络或“GENets”的协作性国家网络来解决这些需求。这些网络通过在国家合作中汇集专家组,大大加强了患者和家庭护理。这促进了协调的临床护理,最佳临床实践的传播,并促进了新知识的交流。
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National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark

Genetic conditions are often familial, but not all relatives receive counseling from the same institution. It is therefore necessary to ensure consistency in variant interpretation, counseling practices, and clinical follow up across health care providers. Furthermore, as new possibilities for gene-specific treatments emerge and whole genome sequencing becomes more widely available, efficient data handling and knowledge sharing between clinical laboratory geneticists and medical specialists in clinical genetics are increasingly important.

In Denmark, these needs have been addressed through the establishment of collaborative national networks called Genetic Expert Networks or "GENets". These networks have enhanced patient and family care significantly by bringing together groups of experts in national collaborations. This promotes coordinated clinical care, the dissemination of best clinical practices, and facilitates the exchange of new knowledge.

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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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