Genomics and genomic testing

 

What is genomics?

Genomics is the study of the structure and function of the genome – a person’s complete set of genetic material, including all of their genes.

The use of genetic information in medicine involves specific health assessments of an individual to determine whether their presentation could be due to, or influenced by, a genetic condition. Genomics is a genome-wide approach, often using advanced technologies, which assesses genetic alterations across the whole genome that may be contributing to the genetic condition.

 

What is genomic testing?

Genetic testing usually involves requesting a pathology test on a single gene, or a small number of genes. Testing is usually performed in series, one step at a time, after each test rules out that specific possibility

Genomic testing involves a large number of genes, or even on an entire genome, with all the testing being performed in one investigation, and all (or nearly all) results being available in a single pathology report.

 

For more information

MedicineToday, Genomics: What it means for patients and GPs

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