Autosomal recessive and X-linked diseases cause significant paediatric morbidity and mortality. Carrier-screening can inform couples of their risk of having an affected child. However, carrier-screening was traditionally offered only to specific populations. To investigate whether carrier-screening could be implemented using existing components of the West Australian (WA) public health system, I surveyed the community and health professionals; designed a protocol and ran the pilot study recruiting and testing 225 WA couples. My study showed that carrier-screening can be provided through existing components of the WA public health system and suggests high-risk carrier couples might be more common than previously appreciated.
|Qualification||Doctor of Philosophy|
|Award date||8 Sep 2021|
|Publication status||Unpublished - 2021|