The Endo-ERN covers under its umbrella a broad range of endocrine disorders, and a significant number of these entities are caused by genetic variants. The underlying disorders are commonly rare and research, diagnostic testing and treatment are fragmented. Clinically, the disorders covered by Endo-ERN are heterogeneous, as are their genetic basis.
However, the genetic mechanisms behind the disorders as well as the genetic testing strategies are very similar. The last years have seen considerable improvement of genetic testing and – as a consequence – of the development and implementation of personalized treatment strategies.
The need to implement and run diagnostic genetic tests in Endo-ERN patients is obvious and requires common activities in respect to offer these tests over Europe, accompanied by quality assurance measures.
In spring 2024, the establishment of the transversal working group on genomic testing has been consented by the Endo-ERN general assembly with the aim to provide all Endo-ERN members the chance for exchange, and availability of the newest genetic tests and strategies, for the best benefit for the patients and their families. This benefit consists both of personalized treatment and management strategies, as well as genetic counselling of the families.
The transversal working group comprises colleagues from all main thematic groups and fields represented in the Endo-ERN (pediatric and adult endocrinologists, geneticists, pathologists, molecular biologists, diagnosticians).
Aims
The transversal working group aims to network and moderate closely, interacting with all MTG and WGs
Topics of the transversal working group include (list will be continuously updated):
- Genetic testing comprising germline and somatic analysis.
- Overview existing guidelines that address genetic testing in the field of endocrinology and make these accessible to the Endo-ERN members.
- Identify gaps in guidelines and discuss them with WP7 and geneticists from other ERNs.
- Provide an overview on available genetic tests in the network (by considering existing structures).
- Improve the quality of genetic testing (standardization), including reporting and recall
- Improve the quality of genetic counseling (standardization) with a focus on patient empowerment
- Identify the genetic contribution in respect of personalized treatment.
- Determine how to use tools and structures like boards, AI, and data repositories to improve genetic patient management.
- Disseminate knowledge on genomic testing by using training activities (CPMs, webinars etc.).
- Develop research cooperations in the field.
The transversal working group is open for suggestions, comments and discussion. New active members are welcome. Contact the Endo-ERN project office to express your interest.
Timeline
The transversal working group will meet online every three months.
