The genetic testing protocols developed by the eviQ cancer genetics reference committees (RCs) are primarily designed for use by familial cancer and cancer genetics clinics, where the focus is familial risk.
Genetic testing is recommended when there is a ≥10% 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 <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 <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.
eviQ cancer genetics protocols are guides only.
*for BRCA1 and BRCA2 a combined probability is used.