Featured G2MC Flagship Project: Genomic Medicine Clinics for Rare Genetic Disorders

The G2MC flagship project on Genomic Medicine Clinics for Rare Genetic Disorders is aimed at promoting implementation of Genomic Medicine in Low Middle Income Countries (LMICs). The partners in this project consist of 17 clinics in LMICs, the University of Maryland School of Medicine, and technical partners paid as fee-for-service contractors such as Centogene and Fabric Genomics. The project brings together clinical geneticists, genetic counsellors, genetic researchers, scientists, bioinformaticians and patients and families affected with rare genetic disorders. The project is funded by the RTW foundation, making it possible for G2MC to pilot the implementation model at 5 clinical sites in LMICs with capacity building for clinical evaluation, diagnostic decision making, clinical exome sequencing, genome data analysis, genetic diagnosis, and genetic/genomic counseling.

Below is the progress that has been made on this project thus far as well as upcoming goals.

Progress as of 1 December 2021:

• Surveyed 17 sites that expressed interest in collaboration and selected 5 sites for the pilot project. The sites are located in Chile, Mexico, Sri Lanka, Malaysia, and South Africa.
• Created the clinical workflow outlined below:

1. 1. Local clinical site identifies potential patients for testing. 
   2. Case pre-review conference for selection of cases at each of the LMIC sites.
   3. Sites consent and enroll probands and parents. Samples are sent to Centogene for exome sequencing.
   4. LMIC’S receive clinical report and exome sequencing data.
   5. UMD Coordinating Center and Clinical Site (if they desire) perform their own analysis of exome data using Fabric software (provided) or other software as available.
   6. Case conference conducted to review case (deidentified) and molecular diagnosis.
   7. Clinician and clinical site follow up with patient.
   8. Clinical site participates in obtaining outcomes data (details TBD)

*Analysis from these groups will be done in 2 cycles. Processes in the second cycle will be adjusted based on analysis from the first cycle. 

• UMB IRB submission and approval. 
• Chose Centogene as company for Genome sequencing and executed contract, coordinated the shipping of sample collection kits with successful delivery and kits on site prior to case pre-review date. 
• Contracted with Fabric Genomics for genome analysis and training LMIC on review of sequence data.
• Scheduled case pre-review conference for 6-Dec-21 for selection of the first 5 cases. 

Upcoming goals for Q1 2022:

• Select cases at 6-Dec-21 case pre-review conference and submit samples for genome sequencing. 
• Train sites on Fabric genomics software platform for genome analysis.
• Schedule genome analysis conference to discuss findings of first genome sequencing cycle.
• Hold 2nd Case pre-review conference and select final 5 cases from each site.
• Track outcomes (TBD).
• Develop full proposal to expand program.