Testing women for multiple genes linked to breast cancer could save thousands of lives, research suggests.
Scientists from Queen Mary University of London looked at more than 11,800 women who battled the disease in the UK, US or Australia.
They simulated looking for mutations on BRCA1, ‘the Angelina Jolie gene’, as well as BRCA2 and PALB2.
This was then compared to the effectiveness of the existing policy, where women are generally only screened if they have a family history of cancer.
The scientists found introducing a multi-gene testing system could save thousands of lives a year across the UK and US. It was also found to be cost effective up to 99 per cent of the time.
They believe genetic screening would enable at-risk women to ‘take preventative action’ against the disease, like chemotherapy or a mastectomy.
Testing women for multiple genes linked to breast cancer could save thousands of lives (stock)
‘Our findings support the concept of broadening genetic testing for breast and ovarian cancer genes to all women with breast cancer, beyond just the current criteria-based approach,’ study author Dr Ranjit Manchand said.
‘This could prevent many more breast and ovarian cancers than the current testing strategy, saving many lives.
‘With the costs of testing falling this can provide huge new opportunities for cancer prevention and changes in the way we deliver cancer genetic testing.
‘This approach can ensure more women can take preventative action to reduce their cancer risk or undertake regular screening.’
Mutations on the BRCA genes raise a woman’s risk of breast cancer by up to 72 per cent and ovarian tumours by up to 44 per cent, the scientists wrote in the journal JAMA Oncology.
PALB2 is also linked to breast cancer, with alterations making a woman around 44 per cent more susceptible.
If a woman is diagnosed with ovarian cancer in the UK or US, she is offered genetic testing.
As well as helping doctors gauge the most effective treatment, this enables a patient to take steps that prevent other related cancers.
The patient can also warn relatives they may be at risk.
Women diagnosed with breast cancer, however, must meet a ‘family history criteria’ to be eligible for genetic testing.
The criteria states the patient must have two first-degree relatives with a BRCA-related cancer.
To learn more about the benefits of multi-gene testing, the scientists looked at 11,836 breast-cancer patients from four clinical trials.
In the first scenario, all the women were tested for BRCA1/2 and PALB2 mutations. In the second, only those with a family history or ‘clinical criteria’ had BRCA tests.
Carriers were then ‘offered’ surgery to remove their ovaries and fallopian tubes, reducing their cancer risk.
Their relatives were also offered MRI scans or mammograms, as well as preventative chemo or surgery.
If implemented in the UK, the scientists predict genetic testing could prevent 2,102 cases of breast and ovarian cancer in just one year, saving 633 lives.
In the US, testing could prevent 9,733 cases of the cancers, saving 2,406 lives, the results suggest.
CANCER SURVIVOR CREDITS GENETIC TESTING FOR ALLOWING HER DAUGHTER TO PROTECT HERSELF FROM THE DISEASE
Alison Dagul says genetic testing allowed her daughter Gaby (pictured together) to protect herself from the disease
A cancer survivor claims genetic testing has allowed her daughter to protect herself from the disease.
Alison Dagul carries the BRCA mutation, and has endured both breast and ovarian cancer.
‘I found out I had ovarian cancer shortly after my breast cancer diagnosis,’ she said.
‘[But] it was only after I had been diagnosed with both I had BRCA testing.’
This led Ms Dagul’s daughter Gaby to have a preventative double mastectomy at 26.
‘Gaby has the information she needs to make informed decisions about her health,’ Ms Dagul said.
‘She is in the process of planning for surgery to prevent ovarian cancer.
‘It is a horrible cloud to live under but I am so grateful she has the chance I didn’t to prevent herself from getting these cancers.’
The scientists then calculated the cost effectiveness of multiple-gene testing. They took into account the price of genetic testing and preventative surgery, as well as the cost of treating cancer.
Results suggest the approach was cost effective in 98-to-99 per cent of simulations for the UK health system.
‘Payers’ would spend £10,464 ($12,856) for every ‘quality adjusted life year’ (QALY), the findings show.
QALY measures the health of a person when the benefits of a treatment, in terms of length of life, are adjusted to reflect their quality of living.
One QALY is the equivalent of one year in perfect health. It is often measured by a person’s ability to carry out daily activities without pain or ‘mental disturbance’.
In the UK, Nice aims to spend less than £20,000 ($24,578) to £30,000 ($36,874) per QALY. And in the US, payers prefer less than $100,000 ($123,007) per QALY.
The results suggest that in the US health system, multi-gene testing would cost $65,661 (£53,404) per QALY.
The simulations also showed it would be cost effective 64-to-68 per cent of the time in the US.
The scientists hope their study will encourage a policy change that screens for breast cancer in a similar way to ovarian tumours.
They believe genetic testing is ‘under utilised’ in the prevention of cancer. Poor awareness of the technology by doctors and the public alike means only 20-to-30 per cent of eligible people are referred, they wrote.
And as many as 97 per cent of people with BRCA1/2 mutations are thought to be ‘unidentified’.
Athena Lamnisos, CEO of The Eve Appeal, which was involved in the research, said: ‘With cancer, prevention is better than cure.
‘This research study provides exciting evidence that offering [screening] to women at the point of diagnosis could save lives’.