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Laboratory Considerations for Reproductive Genetic Carrier Screening: Experiences from Mackenzie's Mission
Corrina C Cliffe1, Richard J N Allcock2, Nigel G Laing3
1Genetics Laboratory, NSW Health Pathology, Randwick, NSW, Australia; Genetics Laboratory, Douglass Hanly Moir Pathology, Sydney, NSW, Australia.
The Journal of Molecular Diagnostics : JMD
|July 30, 2026
Summary
Mackenzie's Mission screened nearly 10,000 couples for genetic disorders, finding 1 in 50 had an increased risk. This large-scale reproductive genetic carrier screening is feasible across diverse populations.
Area of Science:
- Genetics
- Reproductive Health
- Genomic Medicine
Background:
- Reproductive genetic carrier screening identifies couples at increased risk of passing on severe genetic disorders.
- Large-scale implementation is essential for population-level impact.
Purpose of the Study:
- To describe the laboratory processes, successes, and challenges of Mackenzie's Mission, a large-scale reproductive genetic carrier screening project.
- To evaluate the feasibility of pan-ancestral screening in a diverse population.
Main Methods:
- Couple-based screening of 9107 couples for over 1280 genes using exome sequencing or targeted gene panels.
- Self-collected mouth swabs processed by three laboratories.
- Variant Review Committee established for consistent variant classification.
Main Results:
- Identified approximately 1 in 50 couples with an unknown increased risk for screened conditions.
- Exome sequencing and targeted gene panels showed equal effectiveness for small sequence variants.
- Pan-ancestral screening was suitable across diverse ancestries, though analysis time increased.
- Consanguineous couples had a higher rate of increased risk reports.
Conclusions:
- Large-scale, pan-ancestral reproductive genetic carrier screening is feasible in Australia's diverse population.
- Standardized variant review and classification are crucial for consistent reporting.
- The project successfully identified couples with increased genetic risk, informing reproductive choices.
