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Genomic Testing

Childhood Syndromes and Intellectual Disability

Medicare now covers a number of genetic and genomic tests for undiagnosed childhood syndromes and intellectual disability

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Genetic & Genomic Testing Fact Sheet
Personalised Medicine
Gaining Informed Consent 

How is informed consent in genomics different?
Answer: There are wider implications beyond the health of the individual tested and the possibility of complex, uncertain or unexpected findings such as VUS and incidental findings.


These pages provide information and guidance on several of the challenging aspects of gaining informed consent in genomics. These include, setting realistic expectations, the implications for relatives, impact on life insurance, the possibility of identifying unexpected family relationships, and testing for relatives.

NSW Genetic Testing (& Genomic Testing) Consent Form 

National Consent Form (Australian Genomics Health Alliance). 

Ordering Genomic Testing

From any Genetic or Genomic Test, the following possible outcomes exist:

1.  Genetic cause identified - Also known as a 'Positive Result'. Pathogenic/likely pathogenic variant in a known gene.

2.  Genetic cause NOT identified - Also known as an 'Uninformative Result'.  No relevant pathogenic variant is identified.

This may be because - 

a)  the gene causing the condition was not tested   OR

b)  the gene causing the condition is not yet known   OR

c)  the variant causing the condition cannot be found by the test.

3.  Unclear/Uncertain result - Also known as a 'Variant of uncertain significance (VUS)'.  A variant (or variants) has been identified for which pathogenicity is uncertain.

Clarity may be sought by:  liaison with genetics health professionals - may require testing in other family members, may require review in the future.

4. Incidental findingIn rare cases (ranges from less than 1% to 3% depending on the test) a gene variant is identified that is not related to the reason for testing (patient's clinical features & medical history) but still has relevance for the patient or their relative's current or future health or reproductive implications.  This may include susceptibility to a later onset health problem.

Other Terms to describe variants that you may hear (or read on a genetics report):

Splicing Variant -  this is a term used to describe a variant that is thought to affect a process called Splicing.  Splicing is an important step when cells are making proteins. 

Catalogue for Online Education and Training

There are a number of Australian resources available.  These include:

New: Genomic Testing for ID & Childhood Syndromes - Resources for Paediatricians

Genomic Testing Consent Resources for Medical Specialists (includes videos and information).  Genomic Testing Consent is a unique (and important) type of medical consent.  With genomic testing there are wider implications beyond the health of the individual tested and the possibility arises for complex, uncertain or unexpected findings such as VUS and incidental findings.  These resources provide information and guidance on several of the challenging aspects of gaining informed consent in genomics.

CGE & RACGP First Trimester Screening in General Practice Online Learning

Clinical Genomics Research Resource.  An online resource covering key topics areas in current Clinical Genomics Research.

RACP & Garvan Institute of Medical Research Clinical Genomics for Physicians online module

Genomic Testing 101.  A brief introduction to genomics in clinical practice written by a clinical geneticist in NSW Health.  Health professionals and students will learn about how genomics may be applied in clinical care and some of the considerations.

Cancer Mainstreaming Genetic Testing by Oncology Teams - learning activity.  Developed by the Australian Mainstreaming Working Party for the COSA Familial Cancer Group

RACGP Genomics in General Practice online guide 

UTS Genomics in Healthcare Online Module 

Garvan Institute of Medical Research Genomic Report Quiz to learn how to interpret genomic testing reports

Human Genetics Society of Australasia- information about training in Clinical Genetics, Diagnostic Genomics & Genetic Counselling

Direct-to-Consumer (Online DNA) Testing

Human Genetics Society of Australasia 2018- position statement for online DNA testing 

RACP Genomics in General Practice guide- see sections on Personal Genomic Testing & Pharmacogenomics. The Centre for Genetics Education contributed to the development of this resource.  

Brief Background on Online DNA Tests and TOP 10 Things to Consider- Genioz 

Genioz Study- views of 3000 Australians regarding online DNA tests 

NHMRC Guidelines

Direct-to-Consumer genetic testing - statement

Understanding Direct-to-Consumer genetic DNA testing: An information resource for Consumers 

Discussing Direct-to-Consumer Genetic DNA Testing with patients 

Please note that in 2019 there were changes to the life insurance industry guidelines that are not reflected in the pre-dated NHMRC documents above. Specifically, the Financial Services Council Moratorium on the use of Genetic Testing Information in Life Insurance Applications. See Fact Sheet 20 Life Insurance Products and Genetic Testing in Australia and the Financial Services Council information including a Key Facts sheet (under heading “Standard No. 11: Moratorium on Genetic Tests”).


Resource for Researchers

The Clinical Genomics Research Resource is an online resource covering key topics areas in current Clinical Genomics Research. The purpose of this resource is to introduce clinicians and clinician-researchers to genomics research and to familiarise researchers and reviewers with key considerations for conducting clinical genomics research.  

Click here to begin →

Australian Genomics

The largest research collaboration in Australia is Australian Genomics. It is a national collaboration of over 80 organisations, including both clinical and diagnostic genetics services, along with major research and academic institutions. Other national collaborations have been formed with new groups increasing/steadily growing in number.  Several State Collaborations also exist within Australia.


For Information on Pharmacogenomics Click here

RACGP Genomics in General Practice guidelines: short practical summaries with key information that a GP might need to manage common genetic conditions and issues of testing in primary care

Fact Sheet 21 Pharmacogenomics/Pharmacogenetics

Clinical Pharmacogenetics Implementation Consortium (CPIC) - International consortium guidelines

Genomics Strategies & Policies                  

National Strategies & Policies:

National Health Genomics Policy Framework & Implementation Plan  2018-2021 

State Strategies & Policies:

The NSW Health Genomics Strategy  articulates a shared vision for clinical genomics in NSW, promoting collaboration to avoid fragmentation and duplication of resources. 

The NSW Health Genomics Strategy Implementation Plan 2021-2025  was developed with consumers, clinicians, researchers and health managers using a co-design approach. NSW will continue to work towards realising the vision of the NSW Health Genomics Strategy, through delivering key initiatives in clinical genomics focused to enhance disease management and prevention across the NSW Health system. 

Global Strategies & Policies:



Fact Sheets and Resources

Fact Sheets and Resources


Genomic Testing

About Genomics






Cancer in the family


Intellectual Disability

Intellectual Disability Genomic Testing