Every year, babies are born with serious recessive genetic diseases to parents who have no idea that they might be silent carriers.
The 2018 Australia Budget has announced a $500 million dollar investment in preconception genetic screening. This is an area of reproductive medicine that I am passionate about and which was the subject of my PhD, which I completed through the University of Sydney with a year of study conducted overseas at the famous and beautiful University town of Cambridge in the UK.
Recessive genetic conditions often run silently in families for generations and it is not uncommon for carrier couples to be unaware of any family history of affected children.
One such baby was Mackenzie Casella who was born with the condition Spinal Muscular Atrophy or SMA. Like all babies with this condition, Mackenzie was born healthy and appeared to be completely normal, but over the next seven months, her development stalled and went backwards and at 7 months and 11 days of age she passed away.
While doctors in the field of reproductive medicine like myself have for years offered preconception screening testing for a series of genetic conditions to our patients, a serious barrier has been that the cost of the test has been entirely patient funded and costs approximately $400 per person tested.
While the most common genetic conditions include cystic fibrosis, spinal muscular atrophy, fragile X and thalassaemias, my practice is to recommend expanded panel preconception genetic screening to all my patients.
Dr Raelia Lew is an expert in preconception genetic screening and reproductive medicine. She has extensive experience in helping couples at risk of genetic illness to have healthy families through the use of IVF with genetic testing of embryos prior to implantation (Preimplantation Genetic Diagnosis, PGD)
