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How DNA Sequencing Unlocks Clues About Disease

For more information on #YaleMedicine or to enroll in the Generations Project, call 203-605-6884 or email [email protected]. The Generations Project plans to enroll at least 100,000 people in a project that promotes precision medicine by taking a sample of all the volunteers' DNA and then creating a genomic data set that can be used for both their health, as well as improving our understanding of genomics and genetics. The DNA sequence that The Generations Project focuses on is called your germline DNA, t's the DNA that we're born with. Once we're born with that, that's distributed through all our cells and then changes can occur in any one of our trillion cells. There are changes in our genes that might predispose us to serious disease that something could be done about. DNA is the building blocks for our entire genetic code. We have over three billion letters of code and in that code is 20,000 genes and each one of those genes encodes a protein that can be used to do a job within the body. When the code changes over a lifetime, then we refer to that as pathogenic variations and non-pathogenic variations (also known as mutations) and that just means variations that can cause disease and those that can't. When we think about variations that don't cause disease, some of them don't even cause any change, but there are other changes that can change our traits and then there are some changes in the code that cause the cells to act in a unregulated way that drive our risk for disease. We've had a long tradition in medicine of screening people for things that they might not know about, but that if they did, they could do something about it. So the leading causes of death in the United States is heart disease and cancer. And we're not very good at predicting who's going to get heart disease or cancer, but some of the answer is in your genetic code. Right now, we have a very limited list of genes that the project is looking at and delivering back risk results when we find them. So about one to two people out of every hundred will have one of these risks. They probably don't know about it and so through the project, we hope to identify that and give it back to them and their doctors so that they can do something about it. We start now with 10 genes that we give results back on. Each of us have 20,000 genes, so the project has no end in sight. We'll keep adding to the list, so as this grows over time, it'll be a whole new area of preventative medicine.