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Landmark cancer gene study draws corporate interest

CariGenetics staff highlight the lab’s gene-sequencing equipment (File photograph)

Early findings from genetic research into breast cancer launched last year in Bermuda show promise in the field of personalised medicine, in which treatments are individually tailored based on genes.

Carika Weldon, the founder and chief executive of CariGenetics, shared initial results from the Caribbean Whole Genome Breast Cancer Research Pilot Study into genes linked to the disease.

She said the study, which explored unique genetic markers thought to place Black women, particularly those of Caribbean descent, at heightened risk, had piqued the interest of two pharmaceutical companies.

“We finished recruitment in six months, which by global standards is very fast — it just shows the amazing level of commitment from the community,” Dr Weldon said of the volunteers who came forward to get their DNA sequenced.

“We got certified in January by Oxford Nanopore Technologies, went straight into it, and got the genetic sequencing done in two months.”

Genome sequencing was done on the island by a Bermudian team, with mainly Bermudian women carrying out the analysis.

CariGenetics recruited 102 females to take part in the study, 51 of whom were in the patients’ group of people who had breast cancer diagnosed, while a further 51 were in the control group as people who had never been diagnosed and whose immediate kin were also cancer-free.

The recruits had to demonstrate that all four of their grandparents hailed from the Caribbean.

Dr Weldon said: “We had the results as of Sunday, and what we’re seeing is the rate of inherited breast cancer, meaning there are genes linked to it.

“Normally that is around 5 to 10 per cent — that’s normally quoted in global numbers. What has already been noted in African populations and the Caribbean is the rate tends to be higher. We are right on par with that.

“We have actually got 18 per cent, so we are seeing a lot more pathogenic variants.”

She said two common genes linked to breast cancer, brca1 and brca2, showed a “different genetic profile” in Bermuda compared with Caribbean populations.

Dr Weldon added that the study had found genetic links in Bermuda to Lynch syndrome, in which mutations to the genes involved in the body’s natural DNA repair have been linked to a higher rate of cancer.

She said it “potentially could be contributing to us overall having more severe cancer”.

Dr Weldon said the unique study caught attention overseas, and that she had two meetings lined up with pharmaceutical companies interested in the research.

Prostate cancer, a leading cancer in men, could be the next disease to go under the microscope at CariGenetics.

Dr Weldon said that personalised medicine would enable more focused treatment based on individual genetic profiles.

She added that tracking down genes linked to higher incidence of cancers would enable screening of the population so that people could know their risks and avoid lifestyle factors that heightened the chance of developing the disease.

“One thing a lot of people miss with cancer is it’s essentially a disease where your immune system has not done its job,” Dr Weldon explained.

“Cancer starts with one cell. There are always going to be errors in cells where that mutation happens.

“If your immune system is doing what it should, it catches it and gets rid of it. So it’s really down to making sure that your immune system is good.”

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Published May 01, 2024 at 7:59 am (Updated May 01, 2024 at 8:20 am)

Landmark cancer gene study draws corporate interest

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