Southampton researchers have found patients would like more support when sharing the results of their genetic test with at-risk relatives.
New research by Dr Lisa Ballard, Senior Research Fellow at the University of Southampton, has revealed these patients may struggle to pass on what is often seen as bad news.
Her work forms part of the Data, Health and Society theme within the NIHR Southampton Biomedical Research Centre.
Bearer of bad news
Genetic tests are offered to patients if their health condition could be caused by changes in their genes. A sample of blood, saliva or body tissue is sent to a genetic testing laboratory to be analysed. They are mainly used to diagnose rare and inherited health conditions, and some cancers.
Yet when patients receive their results, they not only have to come to terms with these themselves. They are also expected to share them with any members of their close family who may also be at risk.
“It’s a very hard thing to have to do,” Dr Ballard explains. “As a patient, you might have cancer yourself and have undergone genetic testing to find out the reason. You are coping with your diagnosis and your condition… and then you’ve got to go and tell your relatives.”
Dr Ballard’s research has found many people struggle to do this. 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.
“Being burdened with having to pass that information on, and wondering how your relative’s going to react,” she says. “It’s not the best news to have to tell someone.”
Why do relatives need to know?
When relatives are told about genetic test results, and how it might affect them, it can be empowering. They can choose to contact their doctor to get the information they need to decide whether to go ahead with genetic testing themselves.
If they decide to go ahead with it and discover they do have an increased risk of a condition, they can then go for additional checks or reduce their risk through medication or surgery.
Sometimes patients are not sure exactly what information they should share. This may lead to relatives not realising the importance of the information, therefore, not making an appointment to speak to their GP about what this information means for them.
Others will decide certain relatives do not need to know, when actually they do. For example, if the change (variant) is in BRCA1 or BRCA2 gene, which raises the risk of breast and ovarian cancer, they may not think it relevant to inform their male relatives. But these genetic changes put men at higher risk of other cancers, like prostate cancer, and can be passed on to their children.
All this points towards a need for greater support for patients, to help ensure relatives find out all they need to know to be able to act.
“Many patients would like to be the ones informing their relatives,” said Dr Ballard. “They don’t think an out of the blue call from a health professional is appropriate. But they would like support doing it.”
Developing online support
As part of her research, Dr Ballard reviewed support currently provided to help patients share their genetic test results with relatives. This was published in the European Journal of Human Genetics.
She found that only one study provided an apparently effective intervention, however that intervention was in a small number of patients, so the effectiveness was not proven.
None of the studies were based in the UK and none used online support. Based on this observation, she is now developing online tools to support patients with this difficult task.
“My next step is to design a digital intervention that patients can be directed to,” said Dr Ballard. “It shouldn’t add to the health professional’s workload, and a patient can work through it in their own time.”
She hopes this will provide patients with the support they need to inform their relatives.
“It’s a unique situation, because we go through our healthcare having lots of test results, like blood tests, and they’re just about us and that’s easier to manage,” explains Dr Ballard.
“But as soon as you enter into the world of genetics, a result may not just tell you something about yourself - it may tell you something about your relatives too.”