In December 2025, the JOCG in collaboration with the journal PHG organized a webinar with the purpose of highlighting an urgent topic: the critical role of diversity, equity, and inclusion (DEI) in shaping modern genetic and genomic research, clinical implementation, and public health practice.

The Editor-in-Chief (EiC) of JOCG, Prof. Martina Cornel opened the session explaining the journal’s mission to the UN Sustainable Development Goals (SDGs) and introduced DEI as a core priority for the journal, scientific community and global health systems.

Then she handed over to the first invited speaker, Prof. Muin Khoury who outlined how inequities arise at every stage of the genomic translation process:

• Underrepresentation of non-European ancestries leads to misinterpretation of genetic variants
• Populations presenting high frequencies of variants of unknown significance consequence of having reference databases that lack comparable data
• Polygenic risk scores and gene–disease associations that often do not transfer across populations

To improve the current situation, Prof Khoury suggested to replace broad population labels with a mix of genetic markers and environmental data; to develop metrics to monitor equity in genomic research, and expand genomic infrastructures in LMICs supported by WHO recommendations.

Our second invited speaker was the EiC of the journal Public Health Genomics, Prof. Colleen McBride. She argued that without proactive engagement of underrepresented communities, genomic research will continue to reflect the biases of its participant base. Current initiatives reported only 33% of public involvement and most efforts remain low intensity.

She also presented a case study conducted in African-American communities to evaluate the prevalence of certain genetic markers in Breast and Ovarian cancer. Her team engaged community members into informative sessions about BRCA genetics and ancestry and enabled discussions on ethically sensitive policy decisions. This led to an increase in knowledge and willingness to participate in studies.

Finally, Dr. Dafne Horovitz, guest editor of the Special Issue Community Genetics in Brazil, summarized the current challenges in Brazil and the efforts to overcome them. Brazil presents one of the world's most complex patterns of genomic mixtures. However, because nearly half of the variants identified are absent from important datasets like 1000 Genomes reference, the genetic findings and therapies developed elsewhere do not reliably translate to the Brazilian population. In 2014 a National Policy for Rare diseases was implemented including 37 accredited centers that offer 95% newborn screening coverage. Additionally, some parts of the country offer access to advanced therapies, and genetic counseling has been integrated into formal care.

In summary, the webinar presented an unified commitment across researchers and practitioners to incorporate more DEI approaches emphasizing that genomics cannot fulfill its promise of improving health for all unless DEI is treated as a scientific, ethical, and operational imperative.

If you want to watch the webinar, you can find it here.