Genetic testing looks for is changes to the code within genes, called variants (or mutations). When interpreted by experts, variants in genes can tell you whether or not you are at higher risk for disease. Sometimes, a genetic test successfully identifies a variant, but an official interpretation has not been made because there is not enough information about that variant. This result is often called a “variant of uncertain significance,” or deemed inconclusive.
To give an example, everybody has a BRCA-1 and BRCA-2 gene, but certain variants in these genes are known to cause a higher risk of breast and ovarian cancers. Many BRCA-1 and BRCA-2 variants are known to be benign, meaning they do not increase your chance of getting cancer. A genetic test can identify what variants are contained in your BRCA-1 and BRCA-2 genes. Because risk is associated with specific variants, genetic tests can help people better understand their risks of cancer.
Regardless of what kind of result you get, you are entitled to an understanding of the scientific meaning behind your clinical report and the information provided in public variant databases, such as BRCA Exchange. The following pages will help give some basic biological background: