BeSolveRD: The Belgian Genome Resource to Resolve Rare Diseases
Despite the diagnostic implementation of chromosomal microarrays and whole exome sequencing (WES) for patients with intellectual disabilities/developmental disorders (ID/DD), over half remain undiagnosed.
Within the BeSolveRD project the Belgian genetic centers engaged in a multicentric, prospective, randomized control trial with the aim to:
In this study, 800 patients and both parents will be recruited of which half will be sequenced by WES and half with WGS. Illumina® engages in providing the consumable cost for a total of 1270 genomes to be sequenced with 40x coverage.
The different Work Packages that make up the BeSolveRD project are:
Patients are considered for inclusion based on the following criteria and if he/she did not previously have any type of NGS testing:
AIM: Each center will be recruiting according to standard procedures and the number of patients included will reflect the current ID/DD diagnostic activities in the different centers
AIM: Decision on library prep kit(s), methods that can be used for the study
AIM: Thorough technical validation in each sequence Center
AIM: Selection of testing tools , assignment of the different tools to be tested across centers, sharing of test results
AIM: Implementation & validation CNV and SNV detection: best tools in containers (share the different containers across centers
AIM: Pilot deployment of a federated database in all genetic centers
AIM: Implementation of data sharing approach chosen by the consortium
AIM: Analytically validated clinical grade genome sequencing
AIM: Standardized clinical WGS interpretation and reporting
AIM: National best practice guidelines for clinical WGS
AIM: evaluate the diagnostic yield of WGS as compared to current standard of care, for different types of genetic anomalies as defined in WP1 and WP3
AIM:evaluate the impact of applying WGS on the TAT as compared to our current SoC
AIM: study the clinical utility of WGS
AIM: study the indirect impact of the use of NGS regarding secondary findings
AIM: assess the payer cost effectiveness of WGS vs. current SoC
Due to its rapid pace of development, genomic medicine can be disruptive for the system. The introduction of WGS into health care requires a combined initiative of healthcare providers, led by geneticists, and the different governmental departments and agencies.
If proven beneficial, WGS testing will have to be reimbursed by the government. If not, the Belgian system is at risk for diverting to ‘two-speed’ healthcare provisions.
Most important aspects are: The reimbursement of WGS by the healthcare system, Phasing of the introduction of WGS for the different disciplines, Information to all care providers and to the public.
Aim: Work out roadmap to reimbursement of WGS
Aim: Streamline information flows to primary care providers and the public