Types of Genetic Screening: A Guide

Genetic screening is the process of testing someone's genes to detect which genetic diseases they may be at risk for. The information obtained through this genetic screening can then be used to provide preventative measures and treatments. There are many different types of genetic tests. This article explores some of the different types of genetic testing.

Single-Gene Sequencing

Single-gene sequencing is a test in which only one gene is sequenced. This can be done to analyse someone's risk for a specific disease. It is used to predict the risk of ovarian and breast cancer

Site-Specific Mutation Testing

In site-specific mutation testing, many different mutations are analysed and compared.  A patient will often have this type of test done to compare the levels of mutated genes from one specific family member versus another family member. This testing can be used to check for mutations that lead to conditions like cystic fibrosis, sickle cell anaemia, and Huntington's disease. Mutations in genes that cause Alzheimer's disease and heart disease are typically studied through this type of genetic screening.

Tumour Molecular Testing

This test allows the possibility of a person's tumour to be discovered earlier, thereby allowing for earlier and more effective treatments. This test is used to detect cancers early, and for those with a low risk for the disease, it can be used as a preventive measure. In certain gene panels, this test can be used in combination with other types of genetic screening to locate the most likely site of a tumour.

Gene Panels

A gene panel is the grouping of genes that are tested to provide a more accurate picture of an individual's risks. These panels can change depending on when testing was done so the patient does not have to go through the same testing process all over again. To help determine whether a person has cancer in the body, they will undergo a biopsy. This can be followed up with one or more gene panels depending on the type of cancer they have. Gene panels will help identify specific mutations in specific genes. The results from the gene panels will then be used to help determine whether the tumour is slow-growing or fast-growing.

There is also a growing number of private companies that offer genetic testing services for both clinical and personal use. If would like to find out more, you should contact a local healthcare provider which offers genetic screening.