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Testing begins in Orkney for breast cancer gene variant

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Genetic testing has begun on the Orkney island of Westray for a gene variant linked to a higher risk of breast cancer.

A landmark study found one in 100 people with Orcadian grandparents had a specific mutation of the BRCA1 gene.

Researchers found most of them could trace their ancestry to Westray, which has a population of just 600 people.

All adults on Westray who have grandparents from the island are being offered the test for the gene variant.

There are many other BRCA gene variants which can leave women at a higher risk of ovarian and breast cancer.

But the Orkney variant BRCA1 V1736A is believed to be the first time a geographic ancestral link has been made in the UK.

Gina Rendall, operations manager at the Westray development Trust, is one of the first taking part in the testing scheme.

She said: “It is hugely important that testing is rolled out, we’re just a pinpoint in the whole thing.

“Knowledge is power in this case, it’s giving you information for making a proper healthcare plan for the rest of your life.

“There are a lot of anxious folk out there, if we can be preventative on this, it is going to save money and save lives.”

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Gina Rendall will be one of the first to take part in the scheme

The Westray Development Trust is providing £15,000 towards the testing programme.

Ms Rendall added: “When the link to the variant was discovered the news had a deep impact on our small community.

“I’m really proud to be from Westray and of the Trust’s pledge to support the pilot.”

Earlier this year a team of geneticists visited Westray to tell the community about the gene and the plans to offer testing and support.

Identifying the variant was the result of 25 years of research by Zosia Miedzybrodzka, professor of genetics at Aberdeen University and director of the NHS North of Scotland Genetic Service.

Prof Miedzybrodzka said: “We highlighted that this gene alteration started some 400 years ago in Westray.

“It will not have come without a price. Some people will have found that scary, daunting, maybe a bit upsetting.

“What we are offering is for people to have a test and take control of their destiny by being able to take preventative healthcare measures.”

Prof Miedzybrodzka says she wants testing to be successful so it can be rolled out to others in Orkney and the rest of Scotland.

BRCA genes are present in every person, both men and women, but when a fault occurs in one of them it can result in DNA damage and lead to cells becoming cancerous.

People with a genetic variant have a 50% chance of passing it on to their children.

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Awareness of the faulty gene was raised a decade ago when Hollywood actress Angelina Jolie had a double mastectomy after discovering the BRCA1 variant.

The operation was said to reduce her chances of getting breast cancer from 87% to 5%.

However, the NHS advises that risk-reducing surgery is not the only option.

It also advises awareness of changes to breasts, annual breast screenings and MRI scans can help detect breast cancer, while lifestyle changes like healthy eating and exercise can “sometimes reduce risk”.

There is currently no reliable screening test for ovarian cancer, it adds.

 

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Canada to donate up to 200,000 vaccine doses to combat mpox outbreaks in Africa

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The Canadian government says it will donate up to 200,000 vaccine doses to fight the mpox outbreak in Congo and other African countries.

It says the donated doses of Imvamune will come from Canada’s existing supply and will not affect the country’s preparedness for mpox cases in this country.

Minister of Health Mark Holland says the donation “will help to protect those in the most affected regions of Africa and will help prevent further spread of the virus.”

Dr. Madhukar Pai, Canada research chair in epidemiology and global health, says although the donation is welcome, it is a very small portion of the estimated 10 million vaccine doses needed to control the outbreak.

Vaccine donations from wealthier countries have only recently started arriving in Africa, almost a month after the World Health Organization declared the mpox outbreak a public health emergency of international concern.

A few days after the declaration in August, Global Affairs Canada announced a contribution of $1 million for mpox surveillance, diagnostic tools, research and community awareness in Africa.

On Thursday, the Africa Centres for Disease Control and Prevention said mpox is still on the rise and that testing rates are “insufficient” across the continent.

Jason Kindrachuk, Canada research chair in emerging viruses at the University of Manitoba, said donating vaccines, in addition to supporting surveillance and diagnostic tests, is “massively important.”

But Kindrachuk, who has worked on the ground in Congo during the epidemic, also said that the international response to the mpox outbreak is “better late than never (but) better never late.”

“It would have been fantastic for us globally to not be in this position by having provided doses a much, much longer time prior than when we are,” he said, noting that the outbreak of clade I mpox in Congo started in early 2023.

Clade II mpox, endemic in regions of West Africa, came to the world’s attention even earlier — in 2022 — as that strain of virus spread to other countries, including Canada.

Two doses are recommended for mpox vaccination, so the donation may only benefit 100,000 people, Pai said.

Pai questioned whether Canada is contributing enough, as the federal government hasn’t said what percentage of its mpox vaccine stockpile it is donating.

“Small donations are simply not going to help end this crisis. We need to show greater solidarity and support,” he said in an email.

“That is the biggest lesson from the COVID-19 pandemic — our collective safety is tied with that of other nations.”

This report by The Canadian Press was first published Sept. 13, 2024.

Canadian Press health coverage receives support through a partnership with the Canadian Medical Association. CP is solely responsible for this content.

The Canadian Press. All rights reserved.

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How many Nova Scotians are on the doctor wait-list? Number hit 160,000 in June

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HALIFAX – The Nova Scotia government says it could be months before it reveals how many people are on the wait-list for a family doctor.

The head of the province’s health authority told reporters Wednesday that the government won’t release updated data until the 160,000 people who were on the wait-list in June are contacted to verify whether they still need primary care.

Karen Oldfield said Nova Scotia Health is working on validating the primary care wait-list data before posting new numbers, and that work may take a matter of months. The most recent public wait-list figures are from June 1, when 160,234 people, or about 16 per cent of the population, were on it.

“It’s going to take time to make 160,000 calls,” Oldfield said. “We are not talking weeks, we are talking months.”

The interim CEO and president of Nova Scotia Health said people on the list are being asked where they live, whether they still need a family doctor, and to give an update on their health.

A spokesperson with the province’s Health Department says the government and its health authority are “working hard” to turn the wait-list registry into a useful tool, adding that the data will be shared once it is validated.

Nova Scotia’s NDP are calling on Premier Tim Houston to immediately release statistics on how many people are looking for a family doctor. On Tuesday, the NDP introduced a bill that would require the health minister to make the number public every month.

“It is unacceptable for the list to be more than three months out of date,” NDP Leader Claudia Chender said Tuesday.

Chender said releasing this data regularly is vital so Nova Scotians can track the government’s progress on its main 2021 campaign promise: fixing health care.

The number of people in need of a family doctor has more than doubled between the 2021 summer election campaign and June 2024. Since September 2021 about 300 doctors have been added to the provincial health system, the Health Department said.

“We’ll know if Tim Houston is keeping his 2021 election promise to fix health care when Nova Scotians are attached to primary care,” Chender said.

This report by The Canadian Press was first published Sept. 11, 2024.

The Canadian Press. All rights reserved.

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Newfoundland and Labrador monitoring rise in whooping cough cases: medical officer

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ST. JOHN’S, N.L. – Newfoundland and Labrador‘s chief medical officer is monitoring the rise of whooping cough infections across the province as cases of the highly contagious disease continue to grow across Canada.

Dr. Janice Fitzgerald says that so far this year, the province has recorded 230 confirmed cases of the vaccine-preventable respiratory tract infection, also known as pertussis.

Late last month, Quebec reported more than 11,000 cases during the same time period, while Ontario counted 470 cases, well above the five-year average of 98. In Quebec, the majority of patients are between the ages of 10 and 14.

Meanwhile, New Brunswick has declared a whooping cough outbreak across the province. A total of 141 cases were reported by last month, exceeding the five-year average of 34.

The disease can lead to severe complications among vulnerable populations including infants, who are at the highest risk of suffering from complications like pneumonia and seizures. Symptoms may start with a runny nose, mild fever and cough, then progress to severe coughing accompanied by a distinctive “whooping” sound during inhalation.

“The public, especially pregnant people and those in close contact with infants, are encouraged to be aware of symptoms related to pertussis and to ensure vaccinations are up to date,” Newfoundland and Labrador’s Health Department said in a statement.

Whooping cough can be treated with antibiotics, but vaccination is the most effective way to control the spread of the disease. As a result, the province has expanded immunization efforts this school year. While booster doses are already offered in Grade 9, the vaccine is now being offered to Grade 8 students as well.

Public health officials say whooping cough is a cyclical disease that increases every two to five or six years.

Meanwhile, New Brunswick’s acting chief medical officer of health expects the current case count to get worse before tapering off.

A rise in whooping cough cases has also been reported in the United States and elsewhere. The Pan American Health Organization issued an alert in July encouraging countries to ramp up their surveillance and vaccination coverage.

This report by The Canadian Press was first published Sept. 10, 2024.

The Canadian Press. All rights reserved.

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