Connect with us

Cancer

Risk score for personalised breast cancer risk assessment launched

Published

on

An integrated polygenic risk score (iPRS) for personalised breast cancer risk assessment has been launched which reports five-year and lifetime breast cancer risk, offers individuals who receive a negative test result.

The risk assessment has been launched by cell-free DNA and genetic testing company Natera and clinical whole genome analysis and polygenic risk modelling company MyOme.

The launch is supported by a validation study of over 130,000 women which demonstrated that MyOme’s cross-ancestry, integrated polygenic risk score significantly improved breast cancer risk prediction over the common clinical measurement, Tyrer-Cuzick (T-C) alone.

In the study, up to 8 per cent of women had their T-C lifetime risk of breast cancer reclassified with iPRS, allowing for more informed cancer risk management decisions.

Polygenic risk scores account for the combined impact of different variants in an individual’s genome rather than those in just a single gene. While many polygenic risk scores analyse specific genes or a limited number of variants, iPRS integrates the effect of >1 million single nucleotide polymorphisms (SNPs) from whole genome sequencing with T-C clinical inputs from a patient’s health history to provide a more holistic risk assessment based on genetic ancestry rather than self-reported ancestry alone.

An estimated one in eight women in the United States will be diagnosed with breast cancer in their lifetime. Early detection and treatment are crucial for improving outcomes. iPRS can provide a more personalized risk assessment for the up to 95 per cent of women who do not have a known pathogenic variant associated with breast cancer.

By identifying individuals at higher risk, healthcare providers can implement proactive screening, including annual breast MRIs and earlier or more frequent mammograms.

“We are excited to partner with MyOme to further enhance the clinical value of Empower and deliver comprehensive insights about breast cancer risk to women and their healthcare providers,” said Ramesh Hariharan,  general manager of Women’s Health at Natera.

“iPRS addresses a critical need for a cross-ancestry polygenic risk score based on genetic, rather than self-reported, ancestry.”

“We are thrilled to collaborate with Natera to advance MyOme’s vision of predictive healthcare that integrates clinical data with whole genome analysis to develop accurate and personalised risk scores for diseases,” said Akash Kumar, chief medical and science officer at MyOme.

“Our integrated PRS score – the first of many clinically impactful models that will change proactive health – has been thoroughly validated across ancestries and provides a highly accurate risk assessment that enables physicians to construct a personalised screening program to help detect breast cancer in its earliest, most treatable stages.

“The launch of iPRS marks the beginning of a new age in predictive modelling and proactive health, addressing the vast majority of people who do not have severe genetic mutations and are not currently sick.”

iPRS is available to patients between 18 and 85 years of age who have no personal history of breast cancer and no mutations in a breast cancer-related gene.

Insight

Study links changing population to low London screening rates

Published

on

London’s shifting population is holding down breast screening uptake, experts have said, with the capital at 62.8 per cent in 2024, below the NHS’s acceptable 70 per cent threshold.

The London Assembly Health Committee recently heard that the capital faces distinct challenges compared with the rest of the country and that these issues must be addressed.

Josephine Ruwende, a cancer screening lead at NHS England, said frequent moves within the rented sector and the cost-of-living crisis pushing people out of London had made it difficult to reach eligible patients, which she described as “population churn”.

She said: “This is people changing addresses and then not updating their GP, this then affects the invitation process because GP details are used to identify individuals who are eligible.

“In boroughs where we have the highest population churn, we see it strongly associated with lower uptake.”

She noted that even in the wealthiest boroughs there can be high levels of movement, with around 40 per cent of residents changing address within a year.

Such areas also tend to have more people who own second homes or spend long periods abroad, making it harder for the NHS to keep contact details up to date.

As a result, screening invitations may be sent to out-of-date addresses or to people who are overseas.

Leeane Graham, advocacy lead at Black Women Rising, which supports women of colour with a cancer diagnosis, said there were cultural barriers, fear and a mistrust of the health service due to previous experience within communities.

She said: “If you’ve never been for a breast screening before, the thought of having a mammogram can be really, really terrifying.”

Helen Dickens, from Breast Cancer Now, said other reasons included a lack of understanding of breast screening, along with concerns about discomfort, trust and practical issues such as travel.

She said: “We have amazing public transport and we feel that we’ve got great accessibility, but we also know that we don’t have screening centres in every borough.

“We know that for some women that barrier of transport and access will still be a really big reason why they’re not attending screenings.”

NHS London launched its first screening campaign last year in response to the figures, aiming to increase detection at an earlier stage.

Continue Reading

Insight

Period blood screening could boost cervical cancer checks

Published

on

Testing period blood for signs of cervical cancer could offer an accurate, convenient screening option for women who avoid clinic appointments, researchers say.

The current NHS test involves a nurse or doctor taking cells from the cervix, yet a third of those invited do not attend.

A study of the new test, which can be done at home, used blood collected on a cotton strip attached to a standard sanitary pad.

In research involving more than 3,000 women aged 20 to 54 years, Chinese investigators compared testing period blood collected on mini-pads with samples taken by clinicians.

Results were shared via a dedicated app.

When analysed in the lab, blood testing was nearly as good at identifying people with disease as other methods, and very good at ruling out those without it.

Cervical screening appointments are offered to all women, and anyone with a cervix, every five years between ages 25 and 64 in the UK.

Screening looks for high-risk human papillomavirus, a virus that can cause cancer.

A nurse or doctor carries out the test using a speculum to access the cervix.

However, five million women are not up to date, for reasons including fear, pain and discomfort.

“Cervical screening can be difficult for some women for many reasons, like if they have had a bad previous experience, they are menopausal, they have a physical or learning disability, cultural barriers, or are a survivor of sexual violence,” said Athena Lamnisos from charity The Eve Appeal.

Younger women, those with disabilities, and people from ethnic minority communities and LGBT+ groups are more likely to miss appointments.

Researchers say using menstrual blood for HPV testing is convenient, respects privacy and reduces discomfort.

Anyone who tests positive for HPV would be sent for a colposcopy, a close examination of the cervix with a magnifying instrument to look for pre-cancerous cells.

Experts caution that period blood tests are not an immediate alternative to current screening because only women who menstruate could use them.

Some also note the study may have overestimated performance because not all participants had a biopsy to double check results.

Sophie Brooks, health information manager at Cancer Research UK, said it was encouraging to see research exploring new ways to make screening more accessible.

She said testing menstrual blood for HPV was an interesting, non-invasive approach but more research in diverse groups is needed to see how it could fit into existing programmes.

Athena Lamnisos added that it was exciting to see more acceptable ways of offering a potentially life-saving test.

“People have different barriers and concerns about screening, so being able to offer a choice of different methods could be very positive for some who are eligible for screening but don’t currently attend,” she said.

The NHS is already sending at-home test kits to women in some areas of England who have missed several screening appointments.

These DIY kits, containing a vaginal swab, will be sent out more widely at some point this year.

Continue Reading

Features

Innovation cuts ovarian cancer risk by nearly 80%

Published

on

A surgical procedure developed in Canada reduces the risk of the most common and deadly form of ovarian cancer by nearly 80 per cent.

The strategy, known as opportunistic salpingectomy (OS), removes the fallopian tubes during routine gynaecological surgery such as hysterectomy (womb removal) or tubal ligation (having one’s tubes tied).

The study analysed population health data for more than 85,000 people who had gynaecological surgeries in British Columbia between 2008 and 2020, comparing rates of serous ovarian cancer with those who had similar operations without the procedure.

Researchers at the University of British Columbia found that people who had opportunistic salpingectomy were 78 per cent less likely to develop serous ovarian cancer, the most common and deadly subtype.

In the rare cases where ovarian cancer occurred after the procedure, those cancers were found to be less biologically aggressive.

Co-senior author Gillian Hanley is an associate professor of obstetrics and gynaecology at the University of British Columbia.

She said: “This study clearly demonstrates that removing the fallopian tubes as an add-on during routine surgery can help prevent the most lethal type of ovarian cancer,.

“It shows how this relatively simple change in surgical practice can have a profound and life-saving impact.”

British Columbia became the first jurisdiction in the world to offer opportunistic salpingectomy in 2010, after researchers discovered that most ovarian cancers originate in the fallopian tubes rather than the ovaries.

The procedure leaves the ovaries in place, preserving hormone production so side effects are minimal.

The approach was initially developed by Dianne Miller, an associate professor emerita at the University of British Columbia and gynaecological oncologist with Vancouver Coastal Health and BC Cancer.

“If there is one thing better than curing cancer it’s never getting the cancer in the first place,” said Miller.

Since its introduction in British Columbia in 2010, opportunistic salpingectomy has been widely adopted, with approximately 80 per cent of hysterectomies and tubal ligation procedures in the province now including fallopian tube removal.

Professional medical organisations in 24 countries now recommend the procedure as an ovarian cancer prevention strategy, including the Society of Obstetrics and Gynaecology of Canada, which issued guidance in 2015.

“This is the culmination of more than a decade of work that started here in B.C.,” said co-senior author David Huntsman, professor of pathology and laboratory medicine and obstetrics and gynaecology at the University of British Columbia.

“The impact of OS that we report is even greater than we expected.”

British Columbia recently became the first province to expand opportunistic salpingectomy to routine surgeries performed by general and urological surgeons through a project supported by the Government of British Columbia and Doctors of BC.

Continue Reading

Trending

Copyright © 2025 Aspect Health Media Ltd. All Rights Reserved.