From Clinic to ClinVar: The journey through variant curation
For many people, the image of a genetic counsellor is someone sitting in a clinic room, helping families understand a diagnosis, make sense of uncertainty or navigate difficult decisions. While that remains central to the profession, the future of genetic counselling is extending beyond clinical rooms. The Journal of Genetic Counseling special issue on (Re)Imagining the Future of Genetic Counseling invited authors to think about what the future of the profession could look like and our work became part of that conversation.
Many genetic counsellors enter the profession driven by a desire to work with patients and families. Yet the path is challenging. Training is demanding, financial support can be limited and after qualifying, there are few, if any, traditional posts available. Increasingly, genetic counsellors are finding themselves building careers in spaces that historically were not imagined for the profession: laboratories, research teams, variant interpretation and genomic data sharing.
Our paper tells the story of what happens when genetic counsellors are offered an opportunity to step into variant curation and genomic data sharing. On paper, this sounds highly technical. In reality, variant curation is about carefully piecing together evidence to understand what genetic changes may mean for a participant and their family, while ensuring the genetic information of African people is seen, represented and understood. By sharing these curated data through resources such as ClinVar, these contributions become visible to laboratories and researchers around the world, helping others interpret variants, build evidence and ultimately improve genetic diagnoses for future patients.
Currently, African genomic data makes up less than 2% of ClinVar contributions globally. That means many genetic variants identified in African patients remain underrepresented in the databases used worldwide to interpret genetic results. When data is missing, uncertainty increases. Patients receive inconclusive findings, diagnoses are delayed and families remain without answers and without treatment.
Through our work, we submitted variants from African neuromuscular and ALS cohorts, including many variants that were not previously represented in ClinVar. Every submission represented a patient. Every curated variant represented hours of literature searches, multi-disciplinary discussions, follow-up questions and careful interpretation. Every contribution was one more piece added to a picture where many African genomic stories have yet to be included.
The most exciting part of this work is that we are no longer waiting for representation to happen elsewhere. We are building it ourselves. Stepping into these “non-traditional” spaces was not about stepping away from patients and families. Through informed consent conversations, setting expectations and delivering results, we still walk alongside the people whose stories sit behind every variant and every submission.
Within our team, this has become something of a mission: to complete the global map of ClinVar with submitters from Africa. Not only by increasing data points, but by building local expertise, creating pathways for African-trained genetic counsellors and showing that our role is not only to communicate genomic knowledge, but to create it and facilitate responsible, ethical data sharing.
As our work expands, we would like it to become more than individual submissions from our own unit. That’s why we have now started brokering ClinVar Submissions for other African research groups. We hope this initiative creates pathways for collaboration, where African laboratories are supported and connected in sharing their data and contributing their voices to global databases, because increasing African representation in genomic resources has the potential for more accurate interpretation, leading to better diagnoses for patients and families behind every data point.
Beyond individual submissions: brokering ClinVar submissions in Africa
Genomic data only becomes powerful when it can be shared, connected and built upon. Around the world, thousands of institutions contribute to ClinVar, yet only a small proportion of contributors come from Africa.
This means that many variants identified in African patients remain underrepresented in the databases used to interpret genetic results. When this happens, uncertainty persists and opportunities to improve diagnosis, reclassification and future patient care can be lost.
As our own ClinVar work grew, we realised that building representation was not only about increasing submissions from our unit. If we wanted to strengthen African visibility in global genomic databases, we needed to think about the rest of Africa.
We started brokering ClinVar submissions for other African research groups.
Brokering does not mean taking ownership of another group's data. Instead, it means helping laboratories and research teams navigate the process of sharing their variants in a structured and meaningful way. This can include support with preparing submissions, ensuring appropriate disease ontology terms are used, compiling evidence and submitting comprehensive entries into ClinVar that maximise the value of the data being shared.
Sharing variants creates a ripple effect. Other laboratories can compare findings, identify additional cases, strengthen evidence and sometimes help resolve uncertain classifications. A single submission may later contribute to expert consensus, improve future variant interpretation or help another patient somewhere else in the world receive an answer.
Contact us about ClinVar submission brokering
