One of the most important and rewarding aspects of my job as an obstetrician-gynaecologist and genetic pathologist is providing support to patients whose child has a genetic condition.
Many parents feel frustrated when they realise it didn't necessarily have to be this way - if only they had known about genetic carrier screening. Harder still is seeing those dealing with the loss of their child and wondering what they can do to reduce the chance of it happening again.
For decades people could screen for single genetic conditions if they knew a family member had been affected or they came from a specific population. More recently the "three-gene test", focusing on the most common genetic conditions of cystic fibrosis, spinal muscular atrophy and Fragile X syndrome, has become commonplace. These three conditions alone cover about half of positive cases.
But there are hundreds of other genetic conditions and, while individually rare, they are collectively common. One in every 200 babies born in Australia will have a rare genetic condition. These conditions account for 10 per cent of paediatric hospital admissions and 20 per cent of infant mortality.
The Royal Australian and New Zealand College of Obstetricians and Gynaecologists recommends everyone planning pregnancy be offered genetic carrier screening.
Genetics experts, GPs, even government organisations, are urging more people to undergo screening before pregnancy or in the early stages of pregnancy.
Carrier screening needs to become essential. The facts are simple - one in 20 couples have an increased chance of having a child with a significant genetic condition.
For 19 couples, there's nothing else to do.
For the one, genetic screening opens new doors. Plans can be made to ensure the baby will be born in a place with access to the support they may need. Therapy can be organised in advance, reducing the time it can usually take.
Others may screen their embryos to select those with the best chance of avoiding a genetic condition. Genetic testing of embryos now attracts a Medicare subsidy, reducing the once prohibitive cost.
Genetic screening is not about designer babies and the conflation of the two is deeply offensive to those who undertake the test and learn they have a serious chance of passing on a genetic condition to their children. It's about choice - an improved choice backed by having as much information as possible.
Find out more about genetic carrier screening here.
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