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More people could be offered genetic testing for genes linked to ovarian cancer- NICE

By September 29, 2023No Comments

 

Anyone can carry a gene linked to ovarian cancer and many people may not know they are at higher risk, with best estimates suggesting only around 3% of people know they have a high-risk gene.

The guideline aims to raise greater awareness and increase the availability of genetic testing, allowing people to take preventive measures such as surgery, meaning fewer people will go on to develop ovarian cancer.

People who could be carriers should be referred to genetics services for testing and offered counselling. This could include people who have had certain cancers, or if a blood relative has had breast or ovarian cancer.

NICE recommends genetics services should assess the likelihood of people carrying the genes using a recognised mathematic model such as the Manchester scoring system, or criteria based on family history, and test for 1 of 9 identified pathogenic variants. These are: BRCA1, BRCA2, MLH1, MSH2, MSH6, RAD51C, RAD51D, BRIP1 and PALB2.

Women who carry 1 of the genes should be offered information and support as part of discussions about the best option for reducing their risk of developing ovarian cancer. The most effective intervention is surgery to remove the ovaries. The draft guideline recommends this should happen no earlier than age 35, or 45 depending on the type of gene that is found.

In some cases, a hysterectomy may also be considered to reduce the risk of endometrial as well as ovarian cancer.

People from Ashkenazi and Sephardic Jewish family backgrounds have a higher risk of carrying the BRCA1 and BRCA2 genes, with around 280,000 people from these backgrounds expected to be eligible for testing. BRCA1 and BRCA2 genes are also linked to breast cancer.

People from Greenlander family backgrounds also have a higher risk of having 1 of the pathogenic variants and it is expected that fewer than 1,000 will need testing.

Professor Jonathan Benger, chief medical officer and interim director of the centre for guidelines, said: 

“We aim to raise awareness of people’s risk, helping them get the best supportive care and reducing the devastating impact ovarian cancer can have on people and their families.

“While there will be an initial upfront cost associated with setting up multidisciplinary teams and increasing genetic testing, the risk reducing surgery we recommend could save lives while also saving the NHS money and resources in the long run. This is an example of how NICE is helping deliver the best care to patients while also ensuring value for the taxpayer.”

Evidence suggests that around 340,000 to 440,000 women in the UK carry 1 of the pathogenic variants.

Dawn