The current estimate for the number of genes in the human body is in the range of 20,000 – 25,000. A mutation in one, single gene can cause a genetic condition or disease – making for thousands of possible conditions. Helping patients navigate those conditions is the role of genetic counsellors, like Erika Aberg.
“Our role is to help interpret genetic information for patients and families and help them understand what might be going on with a diagnosis or genetic test result,” says Aberg. “We help them adapt to the medical, psychological and familial implications of a genetic disease and have discussions with them about the implications of their own test results.”
Aberg joined the IWK as a genetic counsellor in 2007 and works primarily with prenatal and pediatric patients as part of the Maritime Medical Genetics Service (MMGS). The MMGS program at the IWK is the only one of its kind in the Maritimes and serves patients of all ages, both men and women – a unique population for the IWK.
“If something is genetic, you’re born with it but that doesn’t always mean it presents at birth,” Aberg says. “Genetic conditions’ symptoms can have delayed onset until childhood, teenage years, adulthood or even late adulthood. For example, we might get referred a 45 year old who is having recent onset muscle weakness and their neurologist is thinking it might be some type of genetic issue. That patient would be seen here at the IWK for possible genetic testing and counselling.”
Aberg works closely with her patients and although conversations can be hard, even devastating at times, she knows there is value in the service.
“We provide a lot support to families going through difficult times. All of my patients have my direct phone number and can call me at any time and I’m glad to be able to do that for them,” says Aberg. “Receiving a new diagnosis, and then beginning decision making after can take a toll on people but it’s very rewarding to be able to support these families through those tough times.”
Looking to the future of genetics, Aberg is excited about all the possibilities with new technology and sees the service as more valuable than ever because of that.
“Genetics is a very technology-driven specialty, so I’m excited about what the future will bring. Even in the last 12 years of my practice, the types and extent of the tests we can offer has blown up,” says Aberg. “But we’re in the information age so people have incredible access to information online. Some of that information is high quality but some of it isn’t. If people don’t get good access to genetics care, they may have misconceptions about their genetic condition and the implications of that condition for other family members. I think we have a huge role to play in genetics education and getting to the truth of things with accurate information.”