I wanted to revisit Carika Weldon’s London Calling 2024 session tonight. Weldon founded CariGenetics in Bermuda and has presented in other London Calling sessions. The title of this session was “Towards personalised medicine for breast cancer in the Caribbean: a pilot study.” I wanted to watch this one since I heard about it from the panel Weldon was on. They noted that in 2022, there were 2.3 million women diagnosed with breast cancer and 670,000 deaths globally! Black women are more likely to die from breast cancer at any age in comparison. The burden of disease is not equal, explained Weldon. Four of the top ten countries with the highest breast cancer rates are in the Caribbean! Weldon explained that The Caribbean is made of 26 islands and home to 44 million people, the second largest and most concentrated African diaspora in the world! Weldon also shared data from a study of genetic markers in the Caribbean for breast cancer. CariGenetics aimed to perform early diagnostics without sending samples to the United States! They set up a lab and have the only PromethION-certified facility. Weldon emphasized that although sequencing can be done by shipping samples to the United States, it takes weeks and is expensive… and covered by health insurance. Weldon described the lab: they have a PromethION 24… though they didn’t have EPI2ME. Mitten Jain helped with the bioinformatics analyses of variants. The ethics approval took fourteen months! The research team could only analyze what they were approved to do by the ethics board. They recruited and began sequencing. The team used a third-party analysis workflow… but then had internet issues! Weldon shared results: 40% of mutations were in BRCA1 and BRCA2… but most were elsewhere! The observed mutations in the cohort were different from those predicted by the previous study. Genes associated with inherited breast cancer in Bermuda were not observed in the Caribbean study! This means more therapeutic opportunities! Weldon is excited about how quickly they are able to produce results and share insights with patients and clinicians. For example, whole genome sequencing on the PromethION in Bermuda is cheaper than sending samples to the United States. Weldon is excited because there is interest from pharmaceutical companies to investigate therapeutic treatments. What an inspiring success story: one major gap addressed with one instrument, motivated people, and persistence will positively impact breast cancer diagnosis in a region!
