“Mackenzie’s Mission is a study providing reproductive genetic carrier screening to 10,000 Australian couples who are either planning to have children or are in early pregnancy.
The screening will give couples information about their likelihood of having a child with a severely debilitating and/or life-limiting genetic condition occurring in childhood.
Couples who take part in the study will be offered information and support to help them make informed choices about whether or not to have screening.
If couples choose to have the test, they will be screened for about 750 severe, childhood-onset genetic conditions, including conditions where early diagnosis and treatment can improve a child’s health.
Couples who have an increased chance of having a child with any of these genetic conditions will be supported and informed about their reproductive options, enabling them to make choices according to their own values.”
Tay-Sachs and Sandhoff diseases are amongst the genetic conditions screened for.
Importantly, the study will inform the future of pre-conception and prenatal screening for severely debilitating and/or life-limiting genetic conditions in Australia.
For further information on Mackenzie’s Mission, visit their website.