New Zealand now recommends pre-conception testing for all couples. Until now, these expensive genetic tests were only offered to so-called “high-risk” women, i.e. those with a family history of serious or fatal genetic disease. But as Martin Delatycki, clinical director of Victorian Clinical Genetics Services and a member of the New Zealand genomics advisory working group, explained, “more than 95% of babies with cystic fibrosis are born to parents with no family history of this disease. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) has therefore decided to issue radical new national guidelines: genetic screening must henceforth be offered to all future parents “planning a pregnancy or during their first trimester”. This is to detect the risk of genetic diseases such as cystic fibrosis and spinal muscular atrophy (SMA).
These recommendations fall within the ongoing ‘Mackenzie’s Mission’ [1], which is screening some 10,000 couples in Australia for 500 serious and fatal genetic diseases. This $20-million project is named after a little girl who died of SMA at the age of 7 months. The results of the trials will determine whether or not these genetic tests, which cost $350-900 per person and twice as much for a couple, are reimbursed by Medicare.
Informing parents about these tests will be the responsibility of general practitioners, who will have to “improve their skills to feel comfortable discussing screening with couples,” explained Martin Delatycki.
Wendy Burton, chair of the Royal Australian and New Zealand College of GPs’ Specific Interests Antenatal Group, believes this measure is “reasonable” but tempers any enthusiasm that may follow the announcement: “the simple fact of blindly testing for everything can create more problems than it solves. It’s a case of ‘Don’t ask questions if you don’t want the answers’,” she explained. Martin Delatycki added: “if you’re not planning to take action if you discover your risk of having a child with a genetic disease is higher, it may not be the best thing for you to do”.
The Sydney Morning Herald, Kate Aubusson (04/04/2019)