Genomic Medicine Clinics for Rare Genetic Disorders: Pilot Project Update

The G2MC flagship project on Genomic Medicine Clinics for Rare Genetic Disorders is aimed at promoting the implementation of Genomic Medicine in low- and middle-income countries (LMICs). The pilot project, which kicked off in 2021 with funding from the RTW foundation, partners with the University of Maryland School of Medicine to establish access to evidence-based exome sequencing for the diagnosis of rare uncharacterized and undiagnosed diseases in sites located in Chile, Mexico, Sri Lanka, Malaysia, South Africa, and Nepal. A team consisting of genomic medicine researchers, genetic counselors, a clinical geneticist, and a research coordinator provides support and training to the local clinics.

As of November 2022, samples were collected from patients and their parents (a trio) and sent for exome sequencing. 18 trios from all six sites were sequenced, with 13 “positive” results returned. Of the positive results, five were diagnosed, five were a high-confidence diagnosis, three identified variants of unknown significance, and five resulted as negative. Based on the results, case discussions are underway, and the team is fostering collaborations with global subject matter experts for further workup in novel cases. 

Additionally, the team is currently discussing publication to the Frontiers in Genetics with the possibility of the journal opening a topic of Rare Diseases in LMICs, and keeping that topic open for a year and a half, and the ultimate goal being if the journal receives at least 10 submissions, they would put those together as an ebook with an editorial, with the main manuscript anchoring that collection.