Genes are amazing things – they make us who we are and they also make our future children who they are. Genetic research is advancing so rapidly and we are now able to find out more about our own genes than ever before.
We each have two sets of genes – one from each parent – so if a genetic disease is ‘recessive’, this means it doesn’t usually cause any problems as we have another gene that isn’t affected. A person with a abrnomal ‘recessive’ gene and a normal gene is a called a ‘carrier’ of the disease. Recessive diseases can be really sneaky, as they can be passed on in families without anybody knowing, as carriers may not have symptoms. The problem happens when two carriers, who do not know they are carriers, have a baby together. If both parents pass on their affected gene, meaning the child has two affected genes, the child is likely to have symptoms. Most children with a genetic disorder are born to parents without symptoms and without a history in the family.
Genetic conditions, like other diseases, can be quite variable in their severity. Some are very mild but others like Cystic Fibrosis and Spinal Muscular Atrophy can cause severe health problems and even be fatal. Rachael and Jonathon Casella lost their daughter Mackenzie to Spinal Muscular Atrophy and have started an organisation called Mackenzie’s Mission aiming to make genetic carrier screening accessible and free to all Australians, but at this point is unfortunately not covered by Medicare.
The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) recommends all people considering having a child be offered Genetic Carrier Screening. Their patient information is available here. Most Genetic Carrier Screening products will test for Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome, as these are some of the most common and severe conditions. Extended Genetic Carrier screening is now also available and can test for hundreds of potential conditions.
At Embrace Fertility Adelaide we are now able to offer basic screening (three conditions) via Australian Clinical Labs or Extended Carrier Screening (288 conditions) through Invitae to enable our patients to classify their risks prior to conception. This will then allow for tailored counselling if a risk is identified. While not all genetic conditions can be excluded this is a huge step forward. We believe we can offer our patients a simple, accurate method of testing with lower associated costs than other products available on the Australian market.
By Dr Nicole Edge Gynaecologist / Fertility Specialist / Obstetrician MBBS FRANZCOG GCertBiostat MRMed