Sequencing your DNA involves a series of complicated laboratory processes that read your genetic information and identify differences, known as variants. Each person's DNA contains millions of variants – scientists don't know what all these variants mean yet, but a lot is known about certain variants that can make a big difference to your health.
Sometimes, variants can affect a specific protein or molecule that your body needs to function. Inherited high cholesterol, known as familial hypercholesterolaemia (FH), is caused by variants that affect proteins involved in regulating cholesterol levels. Because these proteins cannot work as well as they should, people with FH have very high levels of cholesterol in the blood. When the body has too much cholesterol, clumps of fat begin to form in the arteries that supply blood to the heart. These plaques can narrow and harden the artery walls, restricting blood flow to the heart and increasing risk of a heart attack.
Knowing about what genetic variants you have could help you and your doctor assess your risk of developing disease, and give you information that could be used at different times throughout your life.
In this video, learn more about variants and the types of information you can gain from having your genome sequenced.
Tags: video, DNA, genome, genome sequencing, genetic disease, pharmacogenomics, clinical application
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