In human health, the study of genetics explores how the function and composition of single genes can affect growth and development. Rapid advancements in genetics and related technologies are creating enormous opportunities for understanding, preventing, treating and curing human diseases. 

NHMRC has produced a range of resources on genetics or genomics and human health for consumers, health professionals, researchers and policy makers which can be accessed via the links below.

Genetics is a broad field of study that is concerned with heredity and how particular qualities or traits are passed on from parents to offspring. In the context of human health, genetics examines single genes and how their function and composition can affect growth and development.  

With technological advancement, the traditional focus on genetics and single genes is shifting towards study of the whole genome, including:

  • genomics: the study of multiple genes and their relationships with one another, and
  • epigenetics: the relationships between genes and the environment.   


Rapid advancements in genetics, genomics and related technologies are creating enormous opportunities for the understanding, prevention, treatment and cure of human diseases.

Resources for consumers

We have developed fact sheets about genetics and human health, including information about the human genome, genome sequencing, epigenetics, personalised medicine, genetic discrimination and the use of genetic information in sport. 

We also provide resources about the important issues to consider in relation to medical or direct-to-consumer genetic DNA testing.

Resources for clinicians and researchers

We have developed information and guidance for clinicians and researchers about issues such as medical and direct-to-consumer genetic DNA testing, biobanks and the translation of ‘omics’-based tests from discovery to healthcare.