Minutes of the first combined virtual meeting of the ESID genetics working party and the ERN molecular testing working group
Date: November 20th, 2023. 17:00 to 18:05 pm
Participants: Klaus, Michele, Lennart, Janna, Kimberly, Roger, Trine, Mike, Capucine, Adela, Andrés, Clara, Elisa, Natalja, Christophe, Jjaroste, Emanuele, Liz, Guilaine, Sophie, Gabriella, Bodo
Apologies sent by: Anne, Laura, Julie, Matthaios, Mikko, Tom, Marielle
Agenda:
TOPIC1: Welcome of members and thanking for participation (Bodo)
TOPIC2: Genetic symposium and educational day at the ESID meeting 2024 in Marseille (Anne)
TOPIC3: Feedback on ESID genetic webinar September 2023 (all)
TOPIC4: Guideline writing (Kimberly and Isabelle)
TOPIC5: Genetic testing, quality assessment (Marielle/Roger/Mirjam)
TOPIC6: The HPO-Project (Marielle)
TOCIC7: Report on Functional genomics (Bodo)
TOPIC8: Any other business (all)
TOPIC1: As this was the first meeting with both, members of the ESID genetics WP and members of the ERN molecular testing WG, we self-introduced each other personally.
TOPIC2: ESID 2024 in Marseille (Anne):
1. Educational day: Bodo and Clara presented the plans of a dedicated 90 min.
session on the ESID educational day focused on genetics. To this end, there shall be a call by the ESID office to submit genetic IEI cases to Carla, Bodo, and Despina to pick for this occasion. These (junior) presenters should be accompanied by a senior ESID-specialist. 4-6 presentation are planned. Priority will be given to case reports in which novel genetic techniques have been deployed, extra minutes will be allocated to the presentation of the novel technology.
ToDo: Bodo to contact the ESID office to organize the call.
2. Inadditiontothiseducationalsymposium,wewishtoorganizea(parallel)
plenary industry-sponsored symposium on the topic of novel NGS
technologies.
To this end, Bodo will contact Novogene, Klaus Schwarz will contact Nanopore, and Bodo will ask Anne Puel and Alexander Hoischen for their contact to Pacbio and Bionano.
TherewillalsobetheGeneticsWorkingPartymeetingat7:30inthemorning. It was decided that it is important to have presentations there on our functional testing activities (Bodo), guideline writing (Liz), HPO project (Marielle), and GenIA (Andrés).
However, the group felt that in 2025 we should organize additional meetings on the genetics of IEI. Suggestions were made to attach it to the diagnostic ESID workshop in Reinach/Freiburg in 2025, the ISSAID meeting in Paris in May 2025, or the IPOPI meeting in Prague in November 2025.
TOPIC3: Feedback on ESID genetic webinar September 2023 (all)
The webinar was well received, no suggestions for further improvement were made. The webinar can be looked at under: https://esid.org/Working-Parties/Clinical-Working-Party/Grand-Rounds-2021- 2023/September-2023-Challenges-of-interpreting-genetic-reports-for-clinicians
or
https://www.youtube.com/watch?v=d2FX-OrdeuQ&t=1080s
TOPIC4: Guideline writing (Isabelle, Kimberly, Liz)
Liz presented the current status and progress in preparing the next steps towards the guideline-writing in a power-point presentation. Interested members of the group or their junior colleagues shall drop a message to Elizabeth Ralph [email protected].
TOPIC5: Genetic testing, quality assessment (Marielle/Roger/Mirjam)
Roger presented slides on the results of a questionnaire sent to genetic diagnostic laboratories regarding their need of future quality assessment offerings in the field of IEI. Currently there is a panel for SCID and one for AID.
In 2024 there shall be a SCID1 quality assessment scheme, in 2025 maybe a broader one.
TOPIC6: The HPO-Project (Marielle)
Kimberly reported that Peter Robinson was moving to Berlin as we spoke and that Marielle is lobbying for a face-to-face meeting in Berlin in 2024. Costs approx. 20.000€
TOCIC7: Report on Functional genomics (Bodo)
Lists for functional testing can be seen at: https://esid.org/Working-Parties/Genetics-Working-Party/Resources Or:
https://ern-rita.org/working-group/molecular-testing/
Next changes to the website list will be implemented in January 2024. Please submit your functional tests at: https://forms.gle/T19mqvyZT5CN77Ye8
TOPIC8: Any other business (all) Nothing to report/discuss.
Next meeting will be on Monday, January 22nd 2024, at 5pm by ZOOM:
Proposed agenda:
Anne Puel to report on the preparations of the ESID 2024 meeting in Marseille
Design of an educational day session (1.5 hrs) on Genetics
Discuss the proposed quality assessment pilot with EMQN for large PID panel
(Marielle, Mirjam)
Any other business?
Feldfunktion geändert
Thema: ESID/ERN genetics meeting
Zeit: 22.Jan. 2024 05:00 PM Amsterdam, Berlin, Rom, Stockholm, Wien
https://uni- freiburg.zoom.us/j/63759007791?pwd=dFlIYmhSRE9KSndkdHBpZFR6LzdJUT09
Meeting-ID: 637 5900 7791 Kenncode: arDH2d7j3
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Meeting-ID: 637 5900 7791 Kenncode: 538053704
Protocol prepared by B. Grimbacher and T. Sprang on November 26 and 27, 2023
