Lauren Thomas recently completed her Masters of Genetic Counselling, a professionally accredited program required for entry into the field of genetic counselling. As part of her Masters course, Lauren investigated the views of parents of children with genetic conditions about which types of conditions they thought should be screened through reproductive genetic carrier screening. The paper presents the views of 150 parents, highlighting the considerations and complexities associated with deciding which conditions to include in carrier screening panels.
Doctors and scientists at Victorian Clinical Genetic Services (VCGS) are working towards better carrier screening and rapid genomic testing programs, to give Australian families tools to understand the cause of an unknown condition or make informed choices when planning a family.
Reproductive carrier screening
Our 'reproductive genetic carrier screen' (RGCS) has changed names and is now known as prepairTM.
The prepairTM genetic carrier screen gives individuals and couples information about their chance of having a child with cystic fibrosis (CF), fragile X syndrome (FXS) or spinal muscular atrophy (SMA). Regardless of family history, couples should be offered information about carrier screening before pregnancy. Awareness of carrier status prior to conception gives couples greater reproductive choice.