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Our publications

Publications, reports & submissions

Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?

Horton AE, Lunke S, Sadedin S, Fennell AP, Stark Z. European Journal of Human Genetics. 2023.

Protection of genomic data and the Australian Privacy Act: when are genomic data ‘personal information’?

Minna Paltiel, Mark Taylor, Ainsley Newson. International Data Privacy Law. 2023.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Byrne A.B, Arts P, Ha T.T, Kassahn K, Pais L, et al. Nature Medicine. 2023.

Australian public perspectives on genomic data storage and sharing: Benefits, concerns and access preferences

Lynch F, Meng Y, Best S, Goranitis I, Savulescu J, Gyngell C, et al. European Journal of Medical Genetics. 2023.

Balancing the safeguarding of privacy and data sharing: perceptions of genomic professionals on patient genomic data ownership in Australia

Malakar Y, Lacey J, Twine N.A, McCrea R, Bauer D. European Journal of Human Genetics. 2023.

Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices

Tudini E, Haas MA, Mattiske T, Spurdle AB. Journal of Medical Genetics. 2023.

Mitochondrial Donation Supplementary Section to the “Ethical guidelines on the use of assisted reproductive technology in clinical practice and research”

The National Health and Medical Research Council consulted on a draft Supplementary Section to the Ethical guidelines on the use of assisted reproductive technology in clinical practice and research (ART Guidelines), which is designed to support the legislation in relation to the conduct of mitochondrial donation. The Australian Genomics submission highlighted areas where clarification of…

Newborn Bloodspot Screening (NBS) Expansion

Australian Government is reviewing the NBS with the intention to expand the program to include more conditions and ensure consistency across Australia. Another objective is to review the time it takes to add new conditions to the screening test. In the submission, Australian Genomics communicated its support for the Genomics Health Futures Mission genomic newborn…

Role and Functions of an Australian Centre for Disease Control

As part of its election commitment to establish a Centre for Disease Control (CDC), the Australian Government consulted on roles and functions of an Australian CDC. Australian Genomics participated in a consultation workshop and submitted a written consultation response. The submission encouraged government to carefully consider the CDC scope and immediate priorities, to establish partnerships…

Considerations for the implementation of reproductive genetic carrier screening

Delatycki M, Kirk E, Laing N (August 2022).
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