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Our publications

Publications, reports & submissions

It Is in Our DNA: Bringing Electronic Health Records and Genomic Data Together for Precision Medicine

Robertson AJ, Mallett AJ, Stark Z, Sullivan C. JMIR Bioinformatics and Biotechnology. 2024.

Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services

Best S, Fehlberg Z, Richards C, Quinn MCJ, Lunke S, Spurdle AB, et al. European Journal of Human Genetics. 2024. 

Australian public perspectives on genomic newborn screening: which conditions should be included?

Lynch F, Best S, Gaff C, Downie L, Archibald AD, Gyngell C, et al. Human Genomics. 2024.

Paving the path for implementation of clinical genomic sequencing globally: Are we ready?

Marshall DA, Hua N, Buchanan J, Christensen KD, Frederix GWJ, Goranitis I, et al. Health Affairs Scholar. 2024.

“Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life

Muller C, Gallacher L, Keogh L, McInerney-Leo A, Boughtwood T, Gleeson P, et al. European Journal of Human Genetics. 2024.

Implementation of reimbursement for genomic testing in Australia: early successes and the pathway ahead

Mallett AJ, Ingles J, Goranitis I, Stark Z. Internal Medicine Journal. 2024.

More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?

Saunders CJ, Brunelli L, Deem MJ, Farrow EG, Hegde M, Stark Z. Clinical Chemistry. 2024.

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

Lunke S, Bouffler SE, Downie L, Caruana J, Amor DJ, Archibald A, et al. BMJ Open. 2024.

Aligning organisational priorities and implementation science for cancer research

Best S, Thursky K, Buzza M, Klaic M, Peters S, Guccione L, et al. BMC Health Services Research. 2024. 

Determining priority indicators of utility for genomic testing in rare disease: a Delphi study

Fehlberg Z, Goranitis I, Mallett AJ, Stark Z, Best S. Genetics in Medicine. 2024.
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