Human genetics

Alternate Term Label:
Genetic testing
NARROWER TERMS
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...
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.
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...
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...
Report

Cancer biomarkers in Australia

This report reviews the evidence for the efficacy of biomarkers and examines overseas precedents for their regulation and the Australian context. It also reports on the opinions of the end-users of biomarkers who are ultimately responsible for their measurement being translated into improved patient care...
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...
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...