Choose appropriate test

The best test depends on what you’re looking for. A test that looks at the whole genome (or even the exome) is not automatically the best test. There isn’t one test that will identify all types of disease-causing genetic variants. Knowing the type of variant you’re looking for (i.e., triplet repeat, single nucleotide variant, copy number variant, mitochondrial variant) and the benefits/limitations of the various test options, will help you choose the right test for your patient.

Genomic testing is indicated for patients presenting with a broad, non-specific phenotype, where a monogenic cause is likely, and where there is high genetic heterogeneity (i.e., many candidate genes). In contrast, single gene or targeted panel testing is more suitable for a patient presenting with a reasonably well-defined phenotype suggestive of a genetic condition, especially when there is only one, or a small number of genes, associated with the condition.

If you have questions about your patient, their suitability for genomic testing or the best type of test, contacting your local genetics service is always advised.

To learn more about evaluating patients for genomics, watch the video with A/Professor Sue White, in the resources below.