Background: Autosomal recessive (AR) and X-linked (XL) conditions are collectively common and place physical, psychological, and financial burden on patients and their families, as well as financial burden on society. Many conditions have no specific treatments available and can only be managed through supportive care. Gene therapies for treating a small number of these conditions are available, but these treatments can cost millions of dollars and the cost effectiveness is largely unknown. Reproductive carrier screening is a strategy to identify the carrier status of couples for AR and/or XL conditions, which can give couples the autonomy to make informed reproductive decisions. In 2018, the Australian government launched a national project named Mackenzie’s Mission (AU$20 million), to determine the evidence for making reproductive carrier screening free for all pregnant or preconception couples in Australia.

Aim & objectives: The overall aim of this thesis is to investigate the economic evidence for implementing reproductive carrier screening in Australia. To achieve this aim, the six objectives are as follow: Objective 1: To develop a cost-effectiveness analysis of AVXS-101 and nusinersen for treating spinal muscular atrophy (SMA). Objective 2: To investigate the economic burden of AR and XL conditions in Australia.
Objective 3: To develop an overview of existing carrier screening panels for AR and XL conditions. Objective 4: To conduct a systematic review of the clinical utility of reproductive carrier screening program. Objective 5: To conduct a systematic review of economic evaluations of reproductive carrier screening program. Objective 6: To explore if reproductive carrier screening is cost-effective for AR and XL conditions for preconception and pregnant couples.