Depth Study- Genetic Technologies, DNA & Disease

Guidance for teachers for using medical genetics as a context for a secondary-sourced investigation for HSC Biology


Medical applications of genetic technology are increasingly important in twenty-first century healthcare. DNA sequencing is becoming an affordable tool for doctors, and gene-based therapies continue to emerge.

During this depth study, students become expert in a genetic disease of their choosing. In this context they:

  • explore the biology of genetic disease;
  • investigate the uses and applications of DNA sequencing and other genetic technologies; and
  • evaluate social and ethical implications of medical genetics.

The investigation takes the form of an evidence-based evaluation of a genetic technology, looking at risks and benefits including the limitations and social/ethical issues involved. Findings could be assessed as a structured report.

Stimulus materials, resources and activities are also provided that cover the background and develop the necessary skills. Activities align to a wide range of syllabus outcomes from modules 5, 6 and 8 as well as Working Scientifically skills.

A full teacher guide is available below.
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Syllabus mapping

This unit of work has links to many content and skills outcomes. A full list is provided in the syllabus mapping document below. 

The primary outcomes addressed are:

Module 5: Heredity

  • investigate the use of technologies to determine inheritance patterns in a population using, for example:
    • DNA sequencing and profiling

Module 6: Genetic Change

  • evaluate the benefits of using genetic technologies in agricultural, medical and industrial applications  
  • interpret a range of secondary sources to assess the influence of social, economic and cultural contexts on a range of biotechnologies  

Module 8: Non-infectious Disease and Disorders

  • investigate the causes and effects of non-infectious diseases in humans, including but not limited to:
    • genetic diseases