Student Resource Guide
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
Please notify us of broken links at kccgeducation@garvan.org.au
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
Resources
Quicklinks
Direct-to-consumer genetic testing
Genetic and genomic medicine
Genomics
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
Carrier
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