Study based at King Edward Memorial Hospital is recruiting couples for a research study that will give prospective parents information about the potential of having a child with serious genetic conditions.
Perth is part of a $20 million national study that will perform genetic carrier screening on 10,000 couples across Australia, with the goal of estimating their chances of having a child with a serious genetic condition. Carrier screening is a type of genetic test that aims to identify if a person is a carrier of a recessive or X-linked genetic condition, which could be passed on to their child.
The study, called Mackenzie’s Mission, will screen for about 750 recessive and X-linked genetic condition, such as spinal muscular atrophy, fragile X syndrome (FXS), cystic fibrosis (CF) and around 1300 other genes associated with severe, life-limiting conditions.
“So far, nearly 40 different diseases have been identified across the country. It’s not just the big three, cystic fibrosis, fragile X and spinal muscular atrophy, but all sorts of other things that we would never really have expected to find,” says Prof Nigel Laing AO, a geneticist from Harry Perkins Institute of Medical Research, who co-leads the study.
The study is named after Mackenzie Casella, who passed away from a rare genetic condition called spinal muscular atrophy, at just seven month and 11 days of age.
About the study
The three-year research study aims to gather evidence in support for making free reproductive genetic carrier screening accessible to anyone wanting to have a child in Australia.
In this first stage of the study, King Edward Memorial Hospital is recruiting couples from targeted regions in WA, with the goal of accurately reflecting the distribution of the Australian population and current medical practice for pre-pregnancy and pregnancy care. “…we are still recruiting and really keen to target GPs in northeast metro Perth and rural and remote areas,” says Jillian Kennedy, Associate Genetic Counsellor for this project.
Couples that choose to participate in this study should consult with a health professional involved with the study. Currently, 650 WA couples have already chosen to participate in the study and about 650 more couples can still register. A total of 1,300 spots have been assigned for WA, out of the 10,000 nationwide target.
If you are interested in being involved and recruiting your patients to take part in Mackenzie’s Mission, please contact the study team on 1800 466 466 or via email: mackenziesmissionwa@perkins.edu.au.
For more detailed information about Mackenzie’s Mission, visit Australian Genomics website for the study and the study official website.