Resources for health professionals

Genetic testing & genomics

Genetics/Genomics Education Modules

Genetics/genomics foundation modules (hosted at CSDS):

• Accessible by QH and non-QH individuals
• Free to all
• Take ~20-30mins to complete
• A resource for those who want further education, and as background reading prior to any formal teaching presentations

The topics are:

• Foundational Science
• Genetic Variation
• Pedigree Drawing and Inheritance Patterns
• Clinical Genetics Services and Mainstreaming of Genomics
• Requesting Genomic Testing
• Interpreting Genomic Testing Results
• Consent and Legal Implications in Genomic Testing
• Discussing Diagnoses and Results with Patients

Guides and fact sheets

• Pathology QLD Genomic testing fact sheet 
  This fact sheet is for patients undergoing diagnostic genomic testing (i.e. gene panel, whole exome sequencing, whole genome sequencing).  It will also help you discuss the consent form for genomic testing with your patient.

• GHQ Requesting diagnostic genomic testing guide 
  This document has been created by Genetic Health Queensland for Queensland Health clinicians as a guide for requesting diagnostic genomic testing for patients with a suspected genetic condition.
• GHQ Interpreting genomic testing results guide
  This document has been created by Genetic Health Queensland for Queensland Health clinicians as a guide for interpreting clinical diagnostic genomic testing results for patients with a suspected genetic condition.

Pathology QLD request forms

• Pathology request form for genetic testing ordered via Pathology Queensland
  This request form should be used for any public patient undergoing genetic testing at Pathology Queensland, or if the sample is being sent to an interstate/overseas laboratory via Pathology Queensland.
• Private Pathology request form for genetic testing ordered via Pathology Queensland
  Medicare funding is available for a limited number of genetic tests. Please ensure your patients meet the MBS-eligibility criteria. If yes, then this request form should be used for any MBS-eligible patient undergoing genetic testing at Pathology Queensland, or if the sample is being sent to an interstate laboratory via Pathology Queensland.

Pathology QLD consent forms

• Consent form for genomic testing (adult) (QH Access Only)
  This consent form needs to be signed by any adult undergoing diagnostic genomic testing (i.e. gene panel, whole exome sequencing, whole genome sequencing).  It should then be filed in the patient’s medical records.
• Consent form for genomic testing (child/person under care) (QH Access Only)
  This consent form needs to be signed by the parent/guardian of any child/person under care undergoing diagnostic genomic testing (i.e. gene panel, whole exome sequencing, whole genome sequencing).  It should then be filed in the patient’s medical records.
• Consent form for other molecular genetic testing (QH Access Only)
  This consent form needs to be signed by any adult or parent/guardian of any child/person under care undergoing other molecular genetic testing (e.g. single gene, targeted variants, tissue testing). It should then be filed in the patient’s medical records.

General Genetics

• NHMRC Genetics in Family Medicine Handbook (for GPs)
• RACGP: Genomics in General Practice
• RACP: Clinical Genomics for Physicians (eLearning)
• RACP: College Learning Series (Adults)
• RACP: College Learning Series (Paediatrics)
• Human Genetics Society of Australasia (education & consumer resources)
• Melbourne Genomics: Learn Genomics
• NSW Centre for Genetics Education
• Genetics Service Finder (public & private)
• OMIM (catalog of human genes & genetic conditions)
• GeneReviews (guidelines & information about many genetic conditions)
• PanelApp Australia (compiles list of genes appropriate for genetic testing)
• Genetic Kidney Disease Decision Aids
• GHQ: Common autosomal recessive genetic conditions

Cancer Genetics

• eviQ (genetic testing, referral and risk management guidelines)
• iPrevent (breast cancer risk assessment & decision aid)
• Cancer Australia: Clinical Best Practice
• Cancer Council Queensland
• GHQ: Information for non-genetic specialists considering ordering diagnostic BRCA1 and BRCA2 gene testing 
• GHQ: Screening investigations for Lynch Syndrome

Prenatal Genetics

• GHQ: Information for Referrers
• RACGP: Non-invasive prenatal testing
• RACGP: Preconception and antenatal carrier screening for genetic conditions
• RANZCOG: Reproductive carrier screening
• RANZCOG: Prenatal screening / testing for chromosome and genetic conditions

Renal Genetics

• Genetic Kidney Disease Decision Aids