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Our publications

Publications, reports & submissions

MSAC Applications for Genetic, Genomic and Screening Tests

This log is a summary of the genetic, genomic and screening tests submitted to MSAC closed or currently in the pipeline of approval. The log is updated quarterly with details of each application including the current status, associated MBS item number/s, outcome, and involvement of Australian Genomics.

Equity, diversity, and inclusion at the Global Alliance for Genomics and Health

Skantharajah N, Baichoo S, Boughtwood T, Casas-Silva E, Chandrasekharan S, Dave S, et al. Cell Genomics. 2023.

Determining the utility of diagnostic genomics: a conceptual framework

Mallett A, Stark Z, Fehlberg Z, Best S, Goranitis I. Human Genomics. 2023.

The application of long-read sequencing in clinical settings

Oehler JB, Wright H, Stark Z, Mallett AJ, Schmitz U. Human Genomics. 2023.

Eliciting Societal Preferences for Non-Health Outcomes: A Person Trade-Off Study in the Context of Genomics

Sheen D, Peasgood T, Goranitis I. Clinical Therapeutics. 2023.

Genomic testing for suspected monogenic kidney disease in children and adults: a health economic evaluation

Wu Y, Jayasinghe K, Stark Z, Quinlan C, Patel C, McCarthy H, et al. Genetics in Medicine. 2023.

Genomics and inclusion of Indigenous peoples in high income countries

Gwynne K, Jiang S, Venema R, Christie V, Boughtwood T, Ritha M, et al. Human Genetics. 2023.

Aligning intuition and theory: a novel approach to identifying the determinants of behaviours necessary to support implementation of evidence into practice

Taylor N, McKay S, Long JC, Gaff C, North K, Braithwaite J, et al. Implementation Science. 2023.

What’s in a name? Justifying terminology for genomic findings beyond the initial test indication: A scoping review

White S, Haas M, Laginha KJ, Laurendet K, Gaff C, Vears D, et al. Genetics in Medicine. 2023.

Quality of life in caregivers of a child with a developmental and epileptic encephalopathy

Robertson EG, Kelada L, Best S, Goranitis I, Pierce K; CoGENeS Group, et al. Developmental Medicine & Child Neurology. 2023.
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