Reproductive genetic carrier screening refers to a type of genetic testing that is available to prospective parents to inform the risk of recessive or x-linked disorders in their offspring. The rationale for such testing is to provide reproductive confidence for those identified to be at a low or high risk. Reproductive genetic carrier screening also aims to provide more informed reproductive choices for those identified as carriers. Such choices might include invitro fertilisation (IVF) with preimplantation genetic diagnosis (PGD), natural conception with prenatal testing of the foetus to determine affectation status, using a donor egg or sperm, or exploring other options such as adoption.
Reproductive genetic carrier screening programs have been established in high risk populations internationally for many years, including but not limited to Tay Sachs disease, cystic fibrosis, thalassaemia and other haemoglobinopathies. More recently, technological advancements have led to the development of expanded carrier screening tests, looking at hundreds to thousands of genetic conditions in a single test, and which are not based on ethnicity or prior increased risk of being identified as a carrier. This shift raises questions about the clinical and societal implications, and highlights practical challenges, such as resourcing and accessibility.
Recent recommendations from the US, Canada, and Australia are supportive of offering expanded carrier screening to all couples planning a pregnancy. These recommendations are based on expert consensus, and for the most part, the quality of the evidence referred to is graded low to moderate. The Australian government recently announced funding for a research project called “Mackenzie’s Mission” which will offer expanded carrier screening to 10,000 couples across Australia over the next 3 years, highlighting the imminent significance of research in this area for the Australian context.
There is an increase in public awareness, availability, and uptake of reproductive genetic carrier screening that is occurring in parallel with the increasing support for this type of testing from professional and government bodies. This context provides a unique opportunity to ensure that quality research is conducted as we implement this health intervention into the general population. The goal of such research is to maximise understanding of the impact, validity, and acceptability of this testing for consumers and health care professionals, taking an evidence-based approach to addressing concerns about clinical and societal implications and potential harms that may arise. Reproductive genetic carrier screening has the potential to become the most accessed type of genetic testing for the general population on an international level, and therefore ensuring the quality and comparability of research conducted in the area through definition of a core outcome set to guide researchers will ensure evidence-based approaches to policy development and inform an ethical and responsible implementation of reproductive genetic carrier screening into the future.
Principal investigator: Ebony Richardson, University of Technology Sydney
Supervisors: Dr Chris Jacobs, University of Technology Sydney
Dr Toby Newton-John, University of Technology Sydney
Dr Alison McEwen, University of Technology Sydney
- COS for clinical trials or clinical research
- COS for practice
- Consensus meeting
- Delphi process
- Focus group(s)
- Systematic review
Phase 1 will consist of a systematic review of the literature to determine which outcomes have been assessed to date
Phase 2 will consist of qualitative methods (focus groups or interviews) with consumers to identify outcomes important to this group
Phase 3 will consist of a modified Delphi method targeted at experts and other stakeholders using an online questionnaire and consensus meeting.