New NICE guideline published today opens up genetic testing to more people

The brand new NICE guideline ‘Ovarian cancer: identifying and managing familial and genetic risk’ has been published today.

You can find the new guideline in full here. It is a long and complex document so we have broken down what it means.

What is “NICE”?

The National Institute for Health and Care Excellence (NICE) is a body that provides national guidance and advice to improve health and social care in England.

What are NICE guidelines?

NICE guidelines make evidence-based recommendations, in this case how to identify and manage familial and genetic risk of ovarian cancer. NICE guidelines are aimed at health care professionals but also the public- so it’s important they make sense to you as well as the teams who see patients.

How are NICE guidelines put together?

The work for this guideline started officially back in July 2021. Once the scope of the guideline was decided (this means what is included and what is not), the team at NICE search through all available evidence for each separate section of the guideline that is laid out right at the start of the process.

The evidence is then discussed by a committee, which is made up of clinical experts and patient representatives. For this guideline, the committee included clinical geneticists, GPs, an oncologist, consultant gynaecologists, a histopathologist, a bio-statistician, a clinical psychologist, and two “lay members” who are patients themselves.

One of these lay members was Jo Stanford, who is Special Projects Manager here at Ovarian Cancer Action.

The committee look at all the evidence and use it, alongside their experience, to make recommendations. They have to consider how the recommendations would work in the real world, whether they will cost money, and whether there are barriers that mean they wouldn’t be practical.

The guideline is then shared publicly for organisations like Ovarian Cancer Action to comment on. The comments from all the organisations who submit to the consultation are discussed, and changes are made where needed. The guideline is then published. You can read in more detail about the process of making the guidelines here.

Is this a new guideline?

The guidance for genetic testing for people with a family history of breast cancer has been in place for some time (you can see this here).

For several years, health professionals and organisations including Ovarian Cancer Action have been pushing for there to be a guideline specifically for familial ovarian cancer. Many people don’t realise that ovarian cancer can be linked to hereditary causes, and some of the faulty genes that increase ovarian cancer risk are not linked to breast cancer.

So in essence, this is a brand new guideline that covers hereditary ovarian cancer risk specifically, but some of the guidance is the same as the current processes that are already in place.

So does this new guideline change anything?

Yes, there are some things that will change:

Testing threshold

Not everyone is eligible for genetic testing and that is still the case.

The decision on whether to offer genetic testing is based on working out how likely it is that the person carries a faulty gene (such as BRCA1/2 or one of the genes involved in Lynch syndrome).

This is calculated based on a person’s own diagnosis of cancer and/ or the members of their family who have been diagnosed (called your “family history”). Previously, this threshold was set at 10% for everyone.

In the new guidelines the threshold depends on the age of the person and whether they are male or female (at birth). In some cases, the threshold is down to as low as 2%.

This means more people will be eligible for genetic testing than before as you need fewer relatives with cancer in your family tree to get to the threshold.

This recommendation was made by examining all the evidence available to work out which groups of people will benefit the most from genetic testing, and how cost-effective it is.

Having only one relative with ovarian cancer makes you eligible for referral to genetics

One aspect which will simplify things for Ovarian Cancer Action supporters is that anyone with a first degree relative (mother, daughter, or sister) or second degree relative (grandparent, grandchild, aunt, niece, or half-sister) with an ovarian cancer diagnosis will be eligible for referral to your local genetics service.

This relative can be on your mother’s or father’s side of the family tree. Previously this would not have made you eligible on its own.

At- risk populations

The guideline also details that people from certain populations will be eligible for genetic testing, regardless of whether they have a family history of cancer.

This is because these populations have a greater chance of carrying a faulty gene and so are already over the threshold for testing, even if they don’t have family members with cancer.

This means if you have at least one grandparent from one of these populations you are eligible for genetic testing:

• Ashkenazi Jewish
• Sephardi Jewish
• Greenlander

All those with invasive epithelial ovarian cancer are eligible

If you have a diagnosis of epithelial ovarian cancer, you will now be eligible for genetic testing regardless of what subtype your cancer is. Previously, a diagnosis of mucinous epithelial ovarian cancer did not make you eligible for genetic testing.

The new guideline also covers in detail everything that should be considered for the high-risk population, including the information that should be provided to people going through genetic testing, the surveillance and risk-reducing surgery that should be offered, and the medications available to reduce cancer risk.

I tried to access genetic testing before this new guideline, but wasn’t eligible. Can I access testing now?

To be able to access genetic testing you will need to be eligible under the new recommendations. To work out if this is the case, speak to your GP. If you are eligible, your GP will be able to refer you to the local genetics team to discuss the next steps.

I am from Scotland/ Northern Ireland/ Wales, how does the new guideline affect me?

Wales: NICE guidelines and quality standards are available to use in Wales. However, apart from technology appraisal guidance (recommendations on the use of new and existing medicines and treatments within the NHS), their use is not mandatory.

Northern Ireland: There is a set process by which the Department of Health in Northern Ireland review NICE guidelines and assess whether they are appropriate to implement. You can read more about this process here.

Scotland: NICE guidelines have no formal status in Scotland, though they are considered in the absence of specific Scottish guidance from the Scottish Intercollegiate Guidelines Network (SIGN). In the case of the familial link to ovarian cancer, SIGN have guidance included in the guidance found here.

We have been in contact with SIGN, and there are no current plans to update this guidance.

To learn more about hereditary ovarian cancer and the options available to people at higher risk, visit our Hereditary Hub.