Human genetics

ALTERNATIVE LABELS
Genetic testing
NARROWER TERMS


Briefing paper

Transforming the genomics workforce to sustain high value care

Genomics, where all a person’s genes are examined, as well as the interactions of those genes with each other, is proving a powerful tool for medicine. This report explores some of the challenges currently facing this rapidly evolving sector.
Report

Connecting to Country: an Australian Indigenous metagenomics strategy, environmental scan and research gap report

The purpose of this report is to assist the Indigenous Australian Genomics Committee of the Department of Health in identifying current research, clinical services and consumer engagement activities in the genomics field that are of relevance to Aboriginal and Torres Strait Islander peoples.
Literature review

Rapid-Review: the role COVID-19 genomics can play in contact tracing, cluster analysis and viral evolution

In the COVID-19 global pandemic over 100,000 viral genomes have now been characterised, and made accessible to the global community. In the context of Aotearoa New Zealand’s pandemic response, the genomic sequencing of positive COVID-19 samples will become an increasingly important tool that must be...
Report

Biodata and biotechnology: opportunity and challenges for Australia

This report canvasses the extraordinary recent developments in genome sequencing and genetic engineering, which will transform all biological enterprises, including healthcare, among the most important parts of the global economy. It argues that there is a opportunity for Australia to play a leading role in...
Report

Genomic data policy framework and ethical tensions

Policy should reflect a society’s ethical positions on issues, and too often the two are divorced until a conflict arises. As such, the tools in this document are presented as a starting point to develop or refine a set of guiding principles and ethical standards...
Guide

Shaping the future of health and healthcare: leapfrogging with precision medicine

This guidance document offers a collection of case studies and set of questions to prompt deeper discussions about ethical tensions pertinent to the collection and use of genomic data.
Working paper

Modelling the possible returns to the NHS from private sector use of the 100K genomes database

This paper discusses why this is a particular moment for the NHS and Genomics England (GE), as they structure the commercial relationships with companies accessing the 100K Genomes database.
Journal article

What does Australia’s investment in genomics mean for public health?

This article argues that while some genetically targeted tests and interventions have demonstrated potential for population‐scale health benefits, more evidence of the cost‐effectiveness is needed.
Report

The future of precision medicine in Australia

This report sets out the status of precision medicine, where it is likely to go over the next five to ten years, opportunities on which to capitalise, challenges for which to prepare and the considerable potential of precision medicine to enhance medical practice and transform...
Journal article

Genetic feedback to reduce alcohol consumption in hospital outpatients with risky drinking: feasibility and acceptability

Abstract There have been no trials in healthcare settings of genetic susceptibility feedback in relation to alcohol consumption. The purpose of this study was to determine the feasibility and acceptability of conducting a full-scale randomised trial estimating the effect of personalised genetic susceptibility feedback on...
Thesis

Investigation of the Genetic Link Between the Metabolic Diseases Gout and Type 2 Diabetes

Gout is associated with various co-morbidities including insulin resistance and type 2 diabetes. Gout and type 2 diabetes are strongly linked to the individual components of metabolic syndrome. There may be shared pathogenic pathways between gout and type 2 diabetes in which insulin resistance, obesity...
Thesis

Testing the Vitamin D3 metabolic gene variants for association with gout in the New Zealand case-control sample-sets

Gout is a common disease caused by immune response to monosodium urate (MSU) crystal deposition in articular or periarticular tissues and in the renal tract after chronic hyperuricemia (uric acid levels exceeding 7mg/dL). Gout generally progresses in three clinical stages: asymptomatic hyperuricemia (elevated serum urate...
Report

Report of the independent review of the Prohibition of Human Cloning for Reproduction Act 2002 and Research Involving Human Embryos Act 2002

The independent Review Committee, chaired by the Hon Peter Heerey QC takes the view that the basic structure of the legislation should remain, while making recommendations about the framework for human embryo research. The 33 recommendations that were produced relate largely to updating and clarifying...
Discussion paper

Non-consensual genetic testing

Non-consensual genetic testing occurs when bodily samples are taken and genetically tested without the consent of the individual to whom they relate. Biomedical technology enables genetic testing to be performed on minute bodily samples. Genetic information may be derived from samples such as hair follicles...
Report

Government response to recommendations of the report Essentially yours: the protection of human genetic information in Australia

The inquiry into the legal and ethical issues surrounding the protection of human genetic information was conducted by the Australian Law Reform Commission and the Australian Health Ethics Committee of the National Health and Medical Research Council. In this publication the government responds to the...