Minutes of the first virtual meeting of the ESID genetics working party

Minutes of the first virtual meeting of the ESID genetics working party

Date: February 2nd, 2023. 17:00 to 18:20 pm

Participants: Mikko, Vassi, Raffaele, Achilleas, Mike, Guillain, Klaus, Roger, Sophie, Kimberly, Asbjorg, Mirjam, Marielle, Andres, Bodo

TOP1: Welcome by the chair and introduction of the agenda:
1. Welcome by the chair
2. Introduction of members
3. Aim 1: How to provide genetic screening to all IEI patients within Europe/ESID 4. Aim 2: Develop network for genetic testing of VUS’es
Action point: Add TOPIC5: Miscellaneous

TOP2 and 3: Introduction of members and assessment of genetic diagnostic capabilities within the respective countries.
Mikko Seppänen, Finland: provision of genetic diagnosis for IEI patients ok.
Vassilios Lougaris and Raffaele Badolato, Italy: genetic diagnosis for IEI patients ok. Achilleas Galanopoulos, Greece: TGP in set-up, funding is a problem

Mike Recher, Switzerland: data production is no problem, data interpretation is a problem Guilaine Boursier, France: provision of genetic diagnosis for IEI patients ok
Klaus Schwarz, Germany: provision of genetic diagnosis for IEI patients ok.
Roger Colobran, Spain: genetic diagnosis for IEI patients ok, but currently only TGP.

Sophie Hambleton and Kimberly Gilmour, UK: provision of genetic diagnosis for IEI patients ok, WES/WGS data produced, but currently only TGP reported.
Asbjorg Pedersen, Norway: provision of genetic diagnosis for IEI patients ok
Mijam van der Burg and Marielle van Gijn, The Netherlands: provision of genetic diagnosis for IEI patients ok

Bodo Grimbacher and Andres Caballero see themselves as Europeans whose job it is to facilitate a genetic diagnosis for all IEI patients in all ESID/European (topic for discussion) countries (Bodo) and make data available to all ESID members (Andres).
Action point: Bodo to circulate current list of country representatives to the members of the WP and ask for suggestions for country representatives for countries currently not part of this list.

TOP4: Develop network for genetic testing of VUS’es
Bodo and Andres showed a first draft of an Excel spreadsheet listing all IEI genes and some functional tests available for them within Europe.
It was suggested to add a column for whether there is a charge or not, and a column for possible literature references for the respective test.
The group agreed to work on this draft to improve its content with help of the google document function.
Action point: Bodo to add columns to the current version of the “Functional IEI gene testing” spreadsheet and place it on Google docs

TOP5: Miscellaneous
Additional topics for future meetings of the ESID genetics working party:

1. Interaction with the ESID Registry WP as we wish to document our genetic findings into the ESID registry, but currently there are e.g. genes missing etc…

2. Write a guidance document of best practice for molecular/genetic diagnosis in IEI and generate evidence for the justification of doing so

3. How to link the autoinflammatory world with the PID world etc.

4. Topic of data sharing

5. Topic of education and information exchange.

6. This was discussed in more detail: There are basically three options: 1. webinars, 2.

   face-to-face meetings, 3. a combination of both. Although many participants voted for a combination of both, the environmental impact of travelling was highlighted. Therefore, the suggestion was presented to attach a face-to-face meeting to the ESID meeting in Marseille, e.g. the day before the ESID meeting starts? An alternative would be to use the ESID educational day for such a face-to-face meeting of the ESID genetics working party?

Action point: Bodo will discuss with the leads of the educational WP and the Marseille congress organizers, and the ESID board whether a one-day f2f meeting of the genetics WP will be feasible just prior to the Marseille ESID congress in 2024.

Further dates of the Genetics Working Party ZOOM meetings shall be on:

Thursday, 30.3.23, 5pm Monday, 08.05.23, 5pm Monday, 10.07.23, 5pm Thursday, 14.09.23, 5pm Wednesday, 22.11.23, 5pm

Protocol prepared by B. Grimbacher on Feb 3rd, 2023