Student Resource Guide

A collection of links for student research into medical applications of genetic technologies including social and ethical issues

These links have been compiled to support student inquiry into the HSC Biology syllabus points below. However they may be helpful for anyone interested the benefits, limitations and ethical considerations surrounding genomics or genetic medicine. 

First compiled October 2018. Last updated November 2018.

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For links relating to specific genetic disorders, please see the 'Genetic Disease Resource Guide' in our Research Matrix for Genetic Disease activity

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HSC Biology Syllabus Connections

Inheritance Patterns in a Population

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

Genetic Technologies

Does artificial manipulation of DNA have the potential to change populations forever?

  • investigate the uses and advantages of current genetic technologies that induce genetic change
  • describe techniques and applications used in recombinant DNA technology, for example:
    • the development of transgenic organisms in agricultural and medical applications
  • 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



Genetic and genomic medicine

Genetic Testing

Genetic Screening

Gene editing and gene therapy

Ethics-focussed resources

Direct-to-consumer genetic testing

Genetic and genomic medicine

A set of consumer health advice documents from Australia's National Health and Medical Research Council  (NHMRC)

Genetic Technologies and Human Health
An interactive infographic from the Royal Society including information on technologies and ethics

Richard Resnick: Welcome to the genomic revolution
11min TedX talk 

What is Genomic Medicine?
Comprehensive point-form article from the National Human Genome Research Institute

Potential and risks of recent developments in biotechnology
A speech by Venki Ramakrishnan,
President of the Royal Society
AAAS annual meeting 2017 (includes human genetic technologies)

Genes and Disease
14min video from Nowgen about how genes affect health.

What is genomic medicine?
Video from the Kinghorn Centre for Clinical Genomics

Genetic Testing

Genetic Testing
Section from Genetics Home Reference genetics primer. Includes information on the validity and usefulness of genetic tests

Genetic and Genomic Testing
Fact sheet from the Centre for Genetics Education

Alan's Story
Multimedia presentation about a young boy helped by whole genome sequencing (click on each block to see the story). 

The Ultimate Selfie
"What healthy people can learn from getting their genome sequenced"
Article from Genome Magazine

Cracks in the Code
A long-read about the limitations of genetic testing from The Globe and Mail.
(note- No need to read it all- the first few paragraphs are really interesting)

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
This academic paper reviews many studies to evaluate the effectiveness of genomic sequencing for diagnosis in children (advanced) 

Genetic Screening

Genetic carrier screening should be recommended to all prospective parents, experts say
Article from ABC Health & Wellbeing

Why we should be worried about gene-carrier screening
Article from The Conversation 

Population Genetic Screening
Report from the Australian Law Reform Commission

Cardiovascular Cascade Genetic Testing: Exploring the Role of Direct Contact and Technology
An academic opinion paper about the ethics of contacting family members who may have a harmful variant

Newborn Screening: Adapting to Advancements in Whole-Genome Sequencing
A short (academic) opinion paper from the journal Genetic Testing and Molecular Biomarkers

Gene editing and gene therapy

Genome Editing with CRISPR-Cas9
4min video from McGovern Institute for Brain Research at MIT 

New Scientist CRISPR articles
A list of articles about gene editing technology

They Thought Hemophilia Was a ‘Lifelong Thing.’ They May Be Wrong.
Article about gene therapy from the NY Times

CRISPR/Cas9 gene editing scissors are less accurate than we thought, but there are fixes
Article from The Conversation

Gene-Therapy Trials for Inherited Form of Blindness Could Start Soon
Article from Frontline Genomics

Genes as Medicine
17min documentary about gene therapy for inherited blindness

Gene therapy: advances, challenges and perspectives
Academic review article about gene therapy

Ethics-focussed resources

Thinking Ethically About Human Biotechnology
Article about ethical reasoning from Markkula Center for Applied Ethics

Ethics of genetic testing
Article from Markkula Center for Applied Ethics

Ethical, Legal and Social Issues
A book excerpt from Genetic Alliance with summaries of many ethical issues

Ethical Issues in Human Genetics and Genomics
Fact sheet from the Center for Genetics Education

It’s time to talk about who can access your digital genomic data
Article from The Conversation about privacy of genetic information

A webcomic that gives insights into carrier screening

Insurers discriminating against people who get genetic test results could hobble research, bioethicists warn
Article from the Sydney Morning Herald about genetic tests and insurance

We are all mutants now: The trouble with genetic testing
Long read about limitations and legal issues associated with genetic testing. (note- No need to read it all- the first few paragraphs are really interesting)

Genetics has learned a ton — mostly about white people. That’s a problem
Article from Vox about lack of equity in genetics research

Ethics of embryo editing divides scientists
Article from Nature News

Designer babies aren’t futuristic. They’re already here.

This article about preimplantation genetic diagnosis asks the question "Are we designing inequality into our genes?"

Gene testing exposes us all to discrimination
Article from the Sydney Morning Herald (2010)

Research Ethics Recommendations for Whole-Genome Research: Consensus Statement
Paper from journal PLOS Biology

Two articles from The Guardian that highlight opposing views on embryo editing
Genetically modified babies given go ahead by UK ethics body
Genetically modifying future children isn’t just wrong. It would harm all of us

Briefing Note: Whole genome sequencing of babies
PDF from the Nuffield Council of Bioethics

Should you edit your children’s genes?
Article from Nature News asks people with genetic diseases what they think about embryo editing.

Direct-to-consumer genetic testing

DNA Testing and Privacy (Behind the scenes at the 23andMe Lab) - Smarter Every Day 176
14min episode of Smarter Every Day covering how online genetic tests work and how samples are handled.

Online DNA Tests
Infographic from Genioz- an Australian Research Project into consumer expectations of genetic testing

False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care
A scientific research paper that shows that 40% of harmful variants reported by direct-to-consumer genetic tests were false positives

Reader: DNA testing could save lives; it did for me
A Letter to the Editor of USA Today from a DTC genetic testing customer

Take it from a genetic counselor: 23andMe's health reports are dangerously incomplete
Opinion piece from the LA Times

What consumer DNA data can and can’t tell you about your risk for certain diseases
Feature article from Science News

DNA ancestry tests may look cheap. But your data is the price
Opinion piece from The Guardian