The Belgian Genome Resource to Resolve Rare Diseases

Summary

Whole-exome (WES) or whole-genome sequencing (WGS) are recommended as first- or second-tier molecular tests for patients with developmental disorders (DD), but the clinical utility of WGS continues to be debated. This prospective randomized trial involving all Belgian Human Genetics centers compares the standard of care (SoC) - combining WES and microarray or shallow WGS - with WGS for 567 individuals with unexplained DD. The aim of the project is to pave the way towards diagnostic implementation of WGS for rare DD in Belgium. To reach this aim, (1) technical validation is performed at different genetic centres in Belgium, (2) clinical utility of WGS is explored and (3) the health economic impact is mapped.

Conditions

• Intellectual Developmental Disorder
• Malformations
• Dysmorphia
• Developmental Delay (Disorder)

Interventions

DIAGNOSTIC_TEST

Whole exome sequencing

Whole exome sequencing using Illumina short read sequencing

DIAGNOSTIC_TEST

Whole genome Sequencing

Whole genome sequencing using Illumina short read sequencing

Sponsors & Collaborators

• Universitair Ziekenhuis Brussel

  collaborator OTHER

• Erasme University Hospital

  collaborator OTHER

• University Ghent

  collaborator OTHER

• Universiteit Antwerpen

  collaborator OTHER

• Université de Liège

  collaborator OTHER

• Cliniques universitaires Saint-Luc- Université Catholique de Louvain

  collaborator OTHER

• Institut de Pathologie et de Génétique Charleroi

  collaborator OTHER

• Universitaire Ziekenhuizen KU Leuven

  lead OTHER

Study Design

Allocation

RANDOMIZED

Purpose

DIAGNOSTIC

Masking

NONE

Model

PARALLEL

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2021-06-02

Primary Completion

2024-07-05

Completion

2025-01-31

Countries

• Belgium

Study Locations