Define the clinical question
Order a genomic test to answer a defined question: diagnosis, inherited risk, treatment selection, reproductive risk, prenatal screening, embryo selection or biological relationship.
Ordering and referral essentials
Choose germline versus somatic testing
Germline testing evaluates inherited susceptibility; somatic testing evaluates tumour-acquired alterations. Tumour profiling can raise suspicion for a germline finding but does not automatically replace dedicated germline testing.
Variant interpretation
For Mendelian germline testing, use standardized classifications: pathogenic, likely pathogenic, uncertain significance, likely benign and benign. A VUS should not be used as though it were a confirmed disease-causing result.
Referral triggers
Consider genetics referral for suspected hereditary cancer, a known familial pathogenic variant, complex reproductive risk, PGT-M, unusual or syndromic presentations, uncertain results with major implications, or results affecting multiple relatives.
Clinical integration
Interpret molecular findings alongside phenotype, pathology, imaging, pedigree and current evidence. Genomic data should support, not replace, clinical judgement.
Clinical use note: This resource supports professional decision making but does not replace current specialty guidelines, multidisciplinary review, the validated scope of the exact laboratory assay, or patient-specific clinical judgement.
Considering a genetics referral?
Our clinical genomics team can help you decide on the right test, counselling or specialist pathway.