Publications

Reports

Submission to the FSC Consultation on FSC Draft Code of Practice 2.0 including Moratorium on Genetics Tests in Life Insurance

GPrepared by Belcher A, Boughtwood T, Newson A, North K on behalf of Australian Genomics. (2019).

A national clinical genomic consent process: Development of standardised consent materials for clinical genomic testing in Australia.

Prepared by Boughtwood T on behalf of the National Clinical Genomic Consent Working Group, Australian Genomics. (2018).

Australian Genomics Position Statement: Use of Genomic Information in Life Insurance and related policies.

Belcher A, Boughtwood T, Pearce M and Newson A, on behalf of Australian Genomics (2018).

Australian Genomics and Partners

A federated ecosystem for sharing genomic, clinical data

Global Alliance for Genomics and Health. A federated ecosystem for sharing genomic, clinical data. Science. 2016. 352 (6291) : 1278-80.

Known unknowns: building an ethics of uncertainty into genomic medicine

Newson A.J, Leonard S.J, Hall A, Gaff C.L. Known unknowns: building an ethics of uncertainty into genomic medicine. BMC Medical Genomics. 2016. 9 (1) : 57.

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Stark Z, Tan T.Y, Chong B, Brett G.R, Yap P, Walsh M, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genetics in Medicine. 2016. 18 (11) : 1090—96.

Genomics articles of interest

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Amendola L.M, Jarvik G.P, Leo M.C, McLaughlin H.M, Akkari Y, Amaral M.D, et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. American Journal of Human Genetics. 2016. 99 (1) : 247.

Accessory subunits are integral for assembly and function of human mitochondrial complex I

Stroud D.A, Surgenor E.E, Formosa L.E, Reljic B, Frazier A.E, Dibley M.G, et al. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Nature. 2016. 538 (7623) : 123—26.

Precision oncology for acute myeloid leukemia using a knowledge bank approach

Gerstung M, Papaemmanuil E, Martincorena I, Bullinger L, Gaidzik V.I, Paschka P, et al.. Precision oncology for acute myeloid leukemia using a knowledge bank approach. Nature Genetics. 2017. [ePub ahead of print]