The terms ‘genetics’ and ‘genomics’ are often used interchangeably, but they are different. Genetic tests usually look at just a single gene, while genomic tests sequence the whole genome (all the DNA), the exome (the part of the genome that codes for proteins) or a panel of genes related to a person’s condition.

Our ability to sequence multiple genes at the same time comes via next generation sequencing (NGS) technology. This technology is changing the conventionally slow, ‘serial’ process of testing for Mendelian (genetic) disorders.

Identifying patients likely to benefit from genetic/genomic testing is important. Choosing the right test for each patient requires a clear understanding of their phenotype and relevant family history.

Genomic testing, in particular, is expensive and time-consuming and results can potentially have far reaching consequences. Managing your patient’s expectations of testing is an important aspect of pre-test counselling and informed consent.

Identify Patient

Genetic and genomic testing can help provide a definite diagnosis for many patients. For others, it can inform treatment or management.

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Choose appropriate test

There are a range of genetic and genomic tests. The right test depends on the type of gene or genetic variant you are trying to find. Tests also vary in terms of cost, turn-around time and complexity of interpretation.

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Pre-test counselling and informed consent

Genetic and genomic testing can generate uncertain or unanticipated information; therefore, informed consent is essential.

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