Towards personalised medicine for breast cancer in the Caribbean: a pilot study


There is evidence to suggest that Black women are more likely to be diagnosed with more advanced breast cancers and breast cancers that have fewer treatment options, such as triple-negative breast cancer compared to other ethnic groups. Four of the top ten countries with the highest breast cancer mortality are in the Caribbean, with the number one country being Barbados. Currently all genes linked to high breast cancer predisposition have been identified from European genomic studies. To date, there has been no study on unique genetic markers for breast cancer in Caribbean women. Additionally, all clinical genetic testing or sequencing for a Caribbean study has always had to be sent outside the region. We conducted a first-of-its-kind study on the genetic differences in breast cancer in Caribbean women in Bermuda by generating 100 whole genomes using long-read nanopore sequencing at 30x coverage. Each genome was analysed using the EPI2ME Labs wf-human-variation workflow. By analysing the patient versus controlgroup cohorts, we found unique candidate variants linked to Caribbean breast cancer for the first time. This work was the first time an entire clinical genomics research study was conducted entirely within the Caribbean by local researchers from recruitment to analysis. Having established a proven workflow for local genomics [opulation studies, we anticipate that this will serve as a model for other disease studies with implementation in more Caribbean islands.


Dr. Carika Weldon, PhD, MRSB, FIBMS, is a Bermudian biochemist and Founder & CEO of CariGenetics, the world’s first Caribbean-based genomics company. Prior to this she was a Lecturer at De Montfort University and founded the Bermuda Principles Foundation. Dr. Weldon worked as the Oxford Nanopore Project Manager at the Oxford Genomics Centre at the niversity of Oxford, UK. In April 2020, called by the Bermuda Government, she was appointed as the Science Advisor to the Premier and Laboratory Director of the government’s COVID-19 lab, which she created. Dr. Weldon was granted a Queen’s Certificate & Badge of Honour for this work.