Implementation considerations for a national program for expanded reproductive carrier screening

Summary The PhD student will take responsibility for a mixed-methods, longitudinal analysis of the Mackenzie's Mission reproductive genetic carrier screening program with a focus on implementation from the perspective of couples. This will include intrinsic and extrinsic influences on couples’ decision-making about screening and about future reproductive choices. 

Project Details

Publicly-funded genetic carrier screening in Australia is currently limited to individuals with a family history of a genetic condition, and particular ethnic groups. Most Australian couples who have children affected by severe recessive genetic conditions are not aware of their high chance of having an affected child. In May 2018, Federal Health Minister Greg Hunt announced $20M funding from the Medical Research Future Fund (MRFF) for Mackenzie’s Mission (MM), a research study to investigate how best to deliver a free, easily accessible RGCS program in Australia for all couples who wish to use it. MM will screen 10,000 couples for their chance of having a child with a condition due to mutation(s) in about 1300 genes.  
The aims of the MM carrier screening project are to:

• Develop and test processes for RGCS as provided by MM
• Evaluate the uptake of RGCS, frequency of increased-risk couples and their reproductive decisions
• Evaluate the implementation of RGCS
• Evaluate the screening experience of couples including
  • psychosocial impacts,
  • implementation challenges,
  • ethical issues and
  • health economic implications

PhD project design

The PhD student will take responsibility for a mixed-methods, longitudinal analysis of the MM program with a focus on implementation from the perspective of couples who participate in the study. This will include intrinsic and extrinsic influences on couples’ decision-making about screening and about future reproductive choices. The candidate will work collaboratively across the MM research streams gathering data to support their PhD.  Quantitative data (drawing on implementation and evaluation frameworks and existing scales including the multi-dimensional measure of informed choice, deliberation, decisional conflict and regret) will be collected and analysed to assess congruence of knowledge, attitude and behaviour to evaluate informed decision-making. The student will analyse relevant quantitative data collected in surveys from couples completed before and after screening provided through the MM program. The student will collect and analyse qualitative data in interviews with purposively selected individuals before and after screening to explore and explain decision-making.

The outcomes of this PhD will include an evaluation of the MM program from the perspective of participating couples, recommendations to address barriers and enablers identified and participation in development of an implementation plan for a nationwide screening program. The project may include an evaluation of a delivered implementation plan.

Stipend

The candidate will be expected to apply for competitive PhD scholarships (NHMRC, University, etc.) although a 3-year PhD stipend is available for an excellent candidate.

Location

The research will be undertaken at the Murdoch Children’s Research Institute and MM is coordinated through the Australian Genomics Health Alliance. The PhD candidate will enrol with the Department of Paediatrics, University of Melbourne.