Despite advancements in medical research and treatment modalities, the Caribbean region continues to experience disproportionately high rates of breast cancer-related deaths. This disparity highlights an urgent need to look into the underlying factors contributing to this alarming trend.
One significant aspect of the problem is the presence of genetic predispositions that are unique to Caribbean populations. The Caribbean is a region housing 44 million people across 26 islands, where every ethnicity can be found. This diversity in addition to the phenomenon of island population genetics where founder mutations are amplified in the non-diluted gene pool, lead to a unique genetic landscape. Traditional genetic testing methods may not fully capture the diverse range of genetic mutations and variations prevalent in Caribbean individuals, leading to potential misdiagnosis and inadequate treatment.
By unraveling the unique genetic factors contributing to breast cancer and developing tailored approaches to diagnosis, treatment, and prevention, there is potential to improve patient outcomes and mitigate the impact of the disease on Caribbean communities.
CariGenetics, a genomics research company focused on bringing all the latest genetic technology to the Caribbean, has conducted the first-ever whole-genome study on breast cancer in Caribbean women in Bermuda, marking a significant milestone in medical research. Unlike previous studies that focused on specific genetic markers found in European studies, this study comprehensively analyzes the entire genome, allowing it to look for novel genetic markers, large structural changes, and epigenetics for the first time in a Caribbean population.
One of the key distinguishing features of the CariGenetics study is the local team of scientists and researchers. Being conducted for the Caribbean by the Caribbean not only ensures cultural sensitivity and community engagement but also harnesses the expertise and insights of professionals familiar with the region's unique genetic makeup and healthcare landscape.
CariGenetics has identified a wide range of known genetic mutations associated with breast cancer at higher rates in their Bermuda cohort. Importantly, these mutations extend beyond the commonly known BRCA1 and BRCA2 genes, which have historically been the focus of genetic testing for breast cancer risk. The unveiling of these higher rates of non-BRCA genes opens up therapeutic opportunities for the island that were not previously realized. Furthermore, the discovery of novel candidate genetic mutations not previously linked to breast cancer sheds light on the complexity of breast cancer genetics in the Caribbean, underscoring the need for expanded genetic testing approaches to assess individuals' risk and inform personalized treatment strategies accurately.
CariGenetics' study has also revealed the presence of structural variants in the genomes of individuals affected by breast cancer in the Caribbean context. By employing advanced long-read sequencing genomic techniques, CariGenetics could detect and characterize these structural variants, which may have significant implications for disease prognosis, treatment response, and risk assessment. Initial results from this study were presented recently at the annual Oxford Nanopore's London Calling conference in May. CariGenetics' Founder and CEO, Dr Carika Weldon, wowed the crowd with her plenary talk that not only brought Caribbean flair with her calypso walk-on music but also touched on the sensitive issues of lack of diversity and inclusion in genomics.
This study represents a significant advancement in genetic research and incorporates technological solutions to address data security and privacy concerns. By leveraging blockchain technology, a decentralized and tamper-resistant digital ledger, CariGenetics can securely store and manage sensitive genetic information while giving individuals greater control over their data. This innovative approach enhances data security and empowers individuals to maintain ownership and control over their genetic information.
Building on the success of its breast cancer study, CariGenetics aims to expand its genomic research initiatives to study 100,000 Caribbean Genomes. This ambitious goal seeks to sequence the genomes of 100,000 individuals of Caribbean ancestry, providing a comprehensive understanding of the region's genetic landscape. By scaling up its genomic research efforts, CariGenetics can gather genetic data to inform a wide range of healthcare interventions, from personalized medicine to population-level health initiatives.
In addition to its work in breast cancer research, CariGenetics expanded its research efforts to prostate cancer on May 1, 2024, since seven of the top ten countries dying from prostate cancer in the world are Caribbean. With the receipt of ethics approval in Bermuda, CariGenetics is currently recruiting male participants and will investigate the genetic underpinnings of this prevalent disease. By working together with key stakeholders, CariGenetics can advance understanding, diagnosis, and treatment options for prostate cancer within the Caribbean context, ultimately improving outcomes for affected individuals.
Beyond their specific achievements, CariGenetics' work holds broader implications for genetic research and healthcare. By prioritizing local capacity-building and data autonomy, they exemplify a shift towards more ethical and community-centered approaches in genetic research. Their findings not only advance scientific knowledge but also have tangible implications for improving healthcare outcomes, particularly for underrepresented populations. To find out more, visit carigenetics.com.
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