What do genetic counsellors do and how can they support people with CF?
We spoke with Ana Rakonjac, a genetic counsellor for Australian Genomics at the Sydney Children’s Hospital Network to find answers to those questions and more.
What is a genetic counsellor?
A genetic counsellor is an allied health professional with training in human genetics, counselling, and health communication. We work in a range of areas, including hospitals, research institutions, and specialist clinics. We can help people understand more about an inherited condition that runs in their family, such as what causes it, how it is passed on, and how to adjust to a genetic diagnosis and plan for the future.
What does a genetic counsellor do?
Genetic counsellors provide individuals and their families with information about genetic conditions and support them in adjusting to diagnoses. We often begin a genetic counselling appointment by taking a family history to better understand a person’s family and any conditions that are common in their family.
When somebody has a condition that runs in their family, we will talk about that specific condition and how it is inherited and managed. We can help people to find out how likely it is that they have a genetic condition that runs in their family. We can find out what tests are available and organise genetic testing for people, explain their genetic testing results, and provide people with support and refer them to specific support organisations.
Why might someone living with CF need to see a genetic counsellor?
As you probably know, CF is a genetic condition. CF is caused by variations or spelling changes in the CFTR gene, which can be passed on in families. To have CF, a child has to inherit 1 copy of the CFTR gene variant from each parent. People with 1 CFTR gene variant are known as carriers of CF. People with a CFTR gene variant on both CFTR genes will have CF.
If you have a child who has recently been diagnosed with CF, or if you or a family member live with CF, and you are thinking about starting a family or are pregnant, you may wish to speak with a genetic counsellor. Genetic counsellors can provide people living with CF and their families with information about CF, including how it is inherited, the genetic mechanisms behind CF, their chance of being a carrier or of having a child with CF, and testing options that are available to find out whether a person is a carrier or whether a pregnancy is affected. We also provide emotional support for families who are adjusting to a diagnosis.
”Don’t be afraid to ask questions! Sometimes, people worry that their question is a silly question but trust me, there is no such thing as a silly question.
Ana, genetic counsellor
How can genetic counsellors help people living with CF?
Genetic counsellors are trained in health communication, and we can help people to understand CF, what causes it, how it is inherited, and what it means for the individual and their family. We provide support and information while taking into account an individual’s personal and family circumstances, culture, beliefs, and values.
How can people with CF get the most out of working with a genetic counsellor?
Don’t be afraid to ask questions! Sometimes, people worry that their question is a silly question but trust me, there is no such thing as a silly question.
What would you like people with CF to know about genetic counselling?
Genetic counsellors are not here to push an agenda or convince people to have genetic testing. Our goal is to empower our patients to consider their values and needs and make the best choices for themselves and their families. You are the expert in your own life!
How does someone find a genetic counsellor or get an appointment?
To have an appointment with a genetic counsellor, ask your GP to refer you to a genetic counselling service near you.
Ana Rakonjac is a genetic counsellor who has worked for Australian Genomics at the Sydney Children’s Hospital Network since November 2021. She has a Master of Genetic Counselling degree from the University of Technology Sydney. Her primary interests are paediatric genetic counselling and acute care.
This story was published in April, 2022.
