Can you describe what you do day-to-day?
I help coordinate genetic testing for patients with inherited conditions and their family members. Working across the heart and lung divisions, I see patients with a wide range of different conditions, from cystic fibrosis to heart rhythm disorders.
Usually, I will start by meeting the patient via the video call software, Attend Anywhere, to explain the process of genetic testing and take down their family history, drawing out a family tree. Next, I will arrange for a blood or saliva sample to be taken for testing.
Once we have the results of the genetics test, I will meet the patient to explain what we have found and put together a treatment plan going forward. Often, we will need to bring in other family members to be checked. We may also talk about the risk of passing on the condition to their children and potential options for planning a pregnancy.
What do you like most about your job?
I love being a detective: gathering information to get answers for families. By understanding the genetic cause of a condition, we can tailor the treatment we are giving to patients and clarify the risk to their family members.
An example would be families where someone has died suddenly. They are in the dark about what caused their loved one to pass away, and they will naturally be concerned that the same may happen to them or other relatives. I will attempt to locate a stored tissue sample for the deceased so we can do a genetic test, called a ‘molecular autopsy’, to find out why they died. If we find the genetic cause, we can then offer testing to family members.
Being a support for families during this difficult time and hopefully providing them with answers is a huge motivation for me.
Why did you decide to work in healthcare?
I come from a family of nurses and social workers so I suppose this could be an inherited profession! Growing up, my favourite show was “Child of our Time” so I’ve always been interested in other people, nature vs nurture and what makes us who we are. Working in healthcare allows me to meet a huge range of people, all with their own unique stories.
What did you want to be when you were younger?
A lollipop lady. My ambitions have changed since then!