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Explore Genomic Medicine

Have you ever wondered where your eye color comes from, or why a certain disease runs in your family? As DNA sequencing becomes more common, you may soon have the opportunity to learn how your genomic makeup contributes to your traits and to your health.

Because the human species evolved so recently, the genomes of any two humans today are about 99.9 percent alike. The 0.1 percent genomic differences that we observe are called genetic variants. Most genetic variants do not affect your overall health. However, over the last 20 years, researchers have identified thousands of genetic variants that cause or contribute to common and rare diseases and also some that can protect you from disease. 

Not only our genes, but also how we live our lives, contribute to disease risk.

Scientists have identified over 4,000 diseases that are caused by a single variant in a specific gene. For example, sickle cell anemia is caused by a single change or mutation in the hemoglobin gene. DNA sequencing can also identify genetic variants that influence a person’s risk of developing a certain disease. However, it is hard to predict who will actually develop common diseases such as diabetes, hypertension, and many cancers just from looking at our genes. When a doctor wants to estimate your risk of developing a disorder, they first ask lots of questions about your family health history and your lifestyle. This is because not only our genes, but also how we live our lives, contribute to disease risk.

Footprints on the Genome

If your risk for a certain disease seems higher than average, the doctor may suggest genetic testing to discover the health information written in your genetic code, as well as lifestyle changes that can increase your chances for a healthy life. Why does lifestyle matter so much?

Researchers have found that some environmental factors can add permanent footprints on the genome, changing genes’ activity and affecting health. For example, aging identical twins – who were initially born with identical genomes – often have large differences in their genome’s environmental footprints, which contribute to significant differences in their medical condition (for example, very often one twin is healthier or lives longer than the other).

A new time is upon us for understanding the genome’s role in health and disease. Hardly a week goes by without a medical breakthrough helped by genomics. Scientists who study how genes and the environment interact are excited about using this knowledge to improve our healthcare. 

Researchers are already developing ways to prevent and treat genetic illnesses. 

With a greater understanding of how genomes work, researchers are already developing ways to prevent and treat genetic illnesses, understand your microbiome, personalize healthcare, and stop deadly epidemics. As you explore the exhibit, you will learn how knowledge about a person’s genome might contribute to improving their health.