The beauty of advances in science means we can know a lot more about what's going on inside our bodies. Genetic testing is available to those who want answers on whether they have a hereditary risk of cancer, adult cardiac disease, kidney and immune disorders or neurological conditions. But along with that advanced knowledge comes possible distress and anxiety. This is where our new genetic counsellor Associate Professor Adrienne Sexton steps in.
Earlier this year, Adrienne began counselling Epworth patients two days a week, working alongside Professor Ingrid Winship AO, our Group Director of Research and Chief Research Officer, who leads this genetics service at Epworth.
"Everyone has a unique combination of variants in their genes," Ingrid explained.
"Some represent a normal variation, such as the genes that determine height, but a significant variant in a gene which has the normal function is to protect against cancer for example, can increase the risk of developing certain cancers over a lifetime.
"Genetics is only part of the picture, but knowing you have an inherited predisposition to developing a medical condition can be very useful, as you can introduce health interventions to manage that risk, such as regular colonoscopies for bowel cancer."
Genetic counselling is provided before genetic testing is done and again with the results, and demand is high for this emotional and practical support.
"People with a diagnosis may raise questions around what does it mean for their future chances of another cancer," Adrienne said.
"When we look at family history and add in genetic testing, we have a more accurate assessment of their likelihood of disease. This information can help them make decisions and outline what it means for them and for their family members."
Many of Adrienne's patients coming in for genetic counselling are under 50 years old.
"With something like neurological conditions like dementia or Huntington's disease, there is value of having an answer, even if there is not current treatment," she said.
"It gives people an opportunity to think about their choices, their values and motivations and how a result affects family; all those things are really important.
"Genetic counselling can help people to weigh up whether they want to know about genetic results, or prefer just to have counselling and advice about screening and prevention, and it's different for each person.
"Before they go down that path, we help them prepare for the results, what it might mean for them and/or their families. We see people after their results too, to help them understand them and refer them on for other support, if needed."
Adrienne says genetic counselling has been around for about 25 years.
"It is always changing with new technology and new, more complicated tests so we have to keep up to date with what is happening around the world.
"The cost is reducing because the technology is rapidly improving. There is a lot of very technical information available and we have to translate what that means in context for someone's health."
Ingrid describes the genetic service as "putting science around speculation".
"When we understand genes better, we can better manage the patient and know whether to do more surveillance in certain conditions, preferably before health problems develop.
"Some people want to know the bare minimum, others want to know everything possible. There is no one right or wrong answer and it's up to the counsellor to help people make sense of it."
