This is a list of resources that could be helpful for people and families who have been offered genomic testing under MBS Items 73358-73363 for-whole exome sequencing (WES) or whole genome sequencing (WGS) to identify childhood syndromes in affected individuals.

To submit a correction or other content, please contact [email protected].

Consumer Resources

(last updated: 15 July 2021)

Australian Health Minister's Advisory Council (AHMAC) Project Reference Group on Health Genomics

A fact sheet and video to help people decide whether to have a genomic test if offered one by a health professional.

https://www.health.nsw.gov.au/services/Pages/genomic-testing-patient-factsheet.aspx

https://www.health.nsw.gov.au/services/Pages/genomic-testing-patient-material.aspx#video

>ANU National Centre for Indigenous Genomics

NCIG: an introduction (video). General video about genomics research.

https://ncig.anu.edu.au/about

https://youtu.be/wftujBV2LPs

Australian Genomics

https://www.genomicsinfo.org.au/

Centre for Genetics Education

Listing of Genetic Services

https://www.genetics.edu.au/SitePages/Genetic-Services.aspx

Genomic Testing for Childhood Syndromes and Intellectual Disability

https://www.genetics.edu.au/SitePages/Genomic-testing-Intellectual-disability-childhood-syndromes.aspx

General genomic testing fact sheets

https://www.genetics.edu.au/SitePages/Genetic-and-genomic.aspx

Pathology Tests Explained

Whole Genome or Whole Exome Testing for Childhood Syndromes

https://pathologytestsexplained.org.au/learning/test-index/whole-genome-or-whole-exome-testing-for-childhood

Learn Genomics
(Melbourne Genomics)

http://learn-genomics.org.au/

Paediatric Epilepsy Network New South Wales (PENNSW)

Web content for families about types of genetic testing (including exomes) and things to consider. http://www.pennsw.org.au/families/epilepsy/genetic-epilepsies

QIMR-Berghofer Indigenous Genomics Health Literacy Project

General video/brochures about genomics research, specific to QLD.

https://www.qimrberghofer.edu.au/ig-help/

Victorian Clinical Genetics Services (VCGS), Murdoch Children’s Research Institute (MCRI), at Royal Children's Hospital Melbourne

Information and resources about genomic sequencing for families and doctors, with links to other reliable resources.

https://www.vcgs.org.au/tests/genomics

 

Contributing members (alphabetical):

  • Alan Ma (CG, NSW)
  • Amy Pearn (WA)-Project Officer
  • Amy Nisselle (Melbourne Genomics)
  • Ben Lundie (ASDG rep to HGSA Council, QLD)
  • Cliff Meldrum (NSW Health Pathology)
  • Corinna Cliffe (NSW)
  • Drago Bratkovic (SA, HOD/CG)
  • Edwin Kirk (NSW Health Pathology)
  • Gareth Baynam (AACG, WA)
  • Gayathri Parasivam (Centre for Genetics Education, NSW)
  • Ivan Macciocca (ASGC ex-Officio Chair, VIC)
  • Janice Fletcher (NSW Health Pathology)
  • John Bielby (PathWest HOD, WA)
  • Julie McGaughran (GHQ, QLD)
  • Justine Elliot (VCGS)
  • Kevin Carpenter (NSW)- HGSA CEO
  • Krista Recsei (RACP)
  • Lesley McGregor (AACG, SA)
  • Mary Louise Freckman (CG, ACT)
  • Matthew Wallis (CG, TAS)
  • Meg Wall (VCGS)
  • Mike Field (CG, NSW)
  • Monica Armstrong (ASDG, ACT, HGSA Council)
  • Natalie Grainger (Project Officer, CGE)
  • Rani Sachdev (CG, NSW)
  • Rebecca Macintosh (ASGC Secretary, NSW)
  • Sebastian Lunke (VCGS)
  • Sue White (AACG, VIC)
  • Tiffany Boughtwood (Australian Genomics, VIC)
  • Vanessa Fitzgerald (NSW Ministry of Health)
  • Vanessa Tyrrell (HGSA President, NSW)
  • Yemima Berman (NSW)-Chair