Autism spectrum disorders or severe early neurodevelopmental disorders without intellectual disability – monogenic forms

Carried by: Defiscience

References:

Clinician(s): Pr DELORME, Dr MARUANI, Dr David GERMANAUD, Dr Laurence PERRIN

Biologist(s): Dr TABET, Pr Thomas BOURGEON

Presentation

Autism spectrum disorders & early and severe neurodevelopmental disorders: a common and severe clinical presentation.

Objectives of pre-indications:

Better assess the impact of genomic variations
Offer high-level genetic expertise to populations
Reduce costs associated with diagnostic uncertainty (multiple consultations, reassessments, additional opinions, etc.)

Expected benefits of WGS and specific features related to pre-indication:

Detection and estimation of individual risk in monogenic disorders
Increased diagnostic yield (C Yuen RK, 2017; Niemi, 2018; Lakoucheva, 2019)
Better risk estimates: early management for at-risk families
Integration of genome-wide data into a broader assessment of the contribution of genomic variation to complex neurodevelopmental disorders, including evaluation of the contribution of polygenic risk scores.

These criteria are listed in the prescription guidance form (available in French), which can be accessed via the following link.

MDM-FMG procedures:

The national upstream MDM-FMG, coordinated by Robert-Debré Hospital (the lead centre for this pre-indication), centralises requests. Meetings are held monthly on the second Thursday of each month at 2:00 p.m. Eligibility is assessed based on the prescription guidance form submitted by email to rcp-tsatnd-nationale.rdb@aphp.fr.
The prescribing clinician is not required to attend the MDM-FMG meeting by videoconference but may do so if they wish to discuss the case or resubmit a previously non-approved case.
Please notify the coordinating team when the form has been sent by email.
The MDM-FMG decision will be communicated to the prescribing clinician by email.
Once a favourable opinion has been received from the national MDM-FMG, the completed form must be uploaded to Spice/Hygen when submitting the electronic prescription.