Supporting families navigating inherited disease risk

New research will develop an online tool to support how genetic risk is shared with at-risk relatives.

Dr Lisa Ballard has been awarded funding from the NIHR to help with sharing this kind of health information.

Some diseases, like certain types of cancer, can be passed down through families. This means if someone has an inherited disease, their close relatives (like parents, siblings, or children) might also be at risk.

But nearly half of these relatives never find out, which means they miss the chance to get tested, screened or take steps to stay healthy.

The NIHR Doctoral Award will also enable Dr Ballard to complete a PhD over the next three years.

It will form part of the NIHR Southampton Biomedical Research Centre’s Data, Health and Society theme.

With this new award, Dr Ballard plans to use Lynch Syndrome – a condition that increases the risk of developing some cancers – as a case study.

Lack of awareness

Up to 200,000 people in the UK are estimated to have Lynch syndrome. The condition increases the risk of bowel cancer, womb (endometrial) cancer and some other cancer types.

It is usually diagnosed by genetic testing. However, fewer than 10% of the estimated cases in the UK have been identified. This means that most people living with Lynch syndrome are unaware they have it.

Delayed diagnosis limits access to screening programmes and preventative treatments. This has the potential to impact survival rates.

Need for more support

Patients who are diagnosed with rare and inherited health conditions are expected to share their results with family members who may also be at risk.

However, Dr Ballard’s previous research has found that many people struggle with this responsibility. This may be because they are coping with their own diagnosis, they don’t feel like it’s a good time to share bad news, or they are worried about how their relative will react. These findings highlight the need for greater support.

The digital tool will guide individuals diagnosed with Lynch syndrome through the process of sharing inherited risk information with relatives. It will offer tailored content, emotional support and practical tools. These will help users identify who to inform, what to say and how to approach these conversations with confidence.

The hope is that this will lay the foundation for similar tools to support families facing other inherited conditions. In fact, Dr Ballard is working with colleagues at the University of Sheffield on a complementary project. This is funded by the Motor Neurone Disease Association and aims to bring the same support to families living with inherited motor neurone disease.

Dr Ballard, a Senior Research Fellow and Health Psychologist at the University of Southampton, said:

“This research has the potential to make a significant impact on families living with Lynch syndrome. By increasing the likelihood that individuals with a hereditary cancer diagnosis share this information with at-risk relatives, the tool could help extend health spans, save lives, and reduce costs for the NHS.”