Ellie Quinn is one of three genetic counsellors working with patients at Royal Brompton and Harefield hospitals. Her role is a key part of the process of being diagnosed and then receiving treatment for an inherited heart or lung condition. We caught up with Ellie to find out more about how she helps patients.

Ellie said: “My work focuses on supporting patients going through genetic testing, and also families as well, helping share information and make sure other family members are kept safe.”

Patients usually come to Ellie after they have been diagnosed, but her work goes beyond the implications of a diagnosis. “My role isn't always about testing, it can be other things that people have questions about in terms of screening for family members, or family planning. We need to think about the whole picture,” Ellie said.

Ellie also talks to relatives who need testing after a family member has been diagnosed with a genetic heart or lung condition. Ellie explained: “Testing can spread because once we find a genetic cause in that person, then we start bringing in their family members for testing. So, then we might start seeing people who haven't got a diagnosis, but they're coming to me to talk through testing.”

It can be hard for a patient to tell their relatives that they also need to be tested, which is something that Ellie can help with. She said: “Patients sometimes have to be the bearer of bad news and we're there to support them with that, which can also be quite complicated and there’s a lot of information to take on board. I help family members receive that information in a way that they can understand.”

After being diagnosed with an inherited heart or lung condition, a patient might need help working through the impact of a diagnosis on the rest of their life. Some patients are particularly concerned about family planning and what they may pass onto their children. Ellie said:

We all have some things that we may pass on. No one is perfect and we all have changes in our DNA that we don't even know about.

Ellie can also help patients connect with other patients who have the same inherited condition. “I'm always there to signpost to the relevant support organizations as well, if they need it,” Ellie said.

When asked what her favourite part of her job was, Ellie said: “I really enjoy getting to know a family, so not just a patient, but to find out the history of what's happened and meeting other members of the family and doing a bit of digging to better understand what's gone on.”

There are many benefits of genetic testing for patients. As well as a diagnosis helping plan a course of treatment, it can reassure patients to know what condition they have. “Waiting for results can give you anxiety. It can be really stressful,” Ellie said. However once someone has been diagnosed, this is only the beginning of a patient understanding their genes and how they could affect their life.

Ellie emphasised the importance of getting a genetic test done quickly.

This is important information for the patient’s care and we want to know the results as soon as possible.

This is why we are raising funds to equip the hospitals’ Genetics and Genomics Team with a brand new sequencer, so that they can test more patients’ DNA. Ellie said: “If we're able to offer these tests at a quick speed it would make everything better for patients and staff.” This appeal will help patients know that they have a genetic condition so that Ellie can help them on the next stage of understanding how their genes affect their life.

Help us bring the certainty of a diagnosis to patients quicker by donating to the Next Generation Genetics appeal.

Donate to buy a new sequencer now