This document is a quick and concise evidence-based summary to provide additional information, instruction, or guidance to complement a treatment protocol or clinical resource document.
The genetic testing protocols developed by the eviQ cancer genetics reference committees (RCs) are primarily designed for use by clinical genetics services or familial cancer centres, where the focus is familial risk.
Genetic testing is recommended when there is a 10% or greater probability of identifying a clinically actionable germline class 4 or 5 variant in a cancer and/or tumour predisposition gene.*
There needs to be sufficient available published peer-reviewed evidence to:
- Establish the probability of identifying a class 4/5 variant
- Quantify associated health risks
- Inform management recommendations for the patient and/or family.
“Clinically actionable” includes one or more of the following:
- Broad management implications for the patient
- Presymptomatic testing of relatives would change management (surveillance and/or risk reducing surgery)
- Family planning implications.
Genetic testing for genes which fulfil the criteria above can be considered as part of a panel which includes additional genes with a less than 10% probability when the findings in those genes would be clinically actionable.
The eviQ cancer genetics RCs do not usually provide guidelines for testing of genes when:
- the probability of identifying a class 4 or 5 variant is less than 10%, and/or
- the value of identifying a variant is for determining systemic therapy options for an individual patient.
The development of genetic testing protocols that are primarily to inform therapy (i.e. treatment focused genetic testing) is the responsibility of other RCs with cancer treatment expertise (e.g. medical oncology RC, haematology RC). Support from the eviQ cancer genetics RCs can be sought for the development of treatment focused genetic testing protocols.
The development of genetic testing and risk management protocols for familial haematological malignancy predisposition conditions is beyond the scope of the cancer genetics RC, as is the development of risk management protocols for complex hereditary syndromes predominantly associated with non-cancer health issues. Members of the eviQ paediatric cancer genetics RC have contributed to a list of resources for some of these rare syndromes but emphasise that this list is incomplete and inclusion in the list does not indicate endorsement of the resource as accurate.
eviQ cancer genetics protocols and resources are guides only.
* In some cases, a combined probability of identifying a clinically actionable pathogenic variant in two or more genes using panel testing will be considered.