 Hello, I'm Barbara Beesecker, a genetic counselor from the National Human Genome Research Institute at the NIH. I'm here today to talk to you about genomics and how it can help you lead to a healthier you. I wonder what you imagine when you hear the word genomics. Is it a DNA double helix? Or is it people working in the laboratory, using their education to analyze complicated genetic information? Where do you picture new robotics, do undergoing DNA sequencing? Our forensics lab trying to get to the bottom of a crime. In fact, all of these venues are a way to use genetic information. But today I'm going to ask you to do something different. I'm going to ask you to hold up a mirror and think about how genetic information, genomic information can be relevant to you today. In particular, how it can help you lead to a healthier lifestyle. This affects all people. It's estimated that there are 3 billion DNA letters, or base pairs, in our genome. And all of us have a complete genome inside the nucleus of most of our blood cells. Scientists refer to something human genetic variation as the difference between one individual and another. In fact, between any two individuals on this planet, we share 99.9 percent of our DNA in common. That leaves only 0.1 percent to attribute all the differences between two individuals, both in how they look and whether or not they're ill or healthy. In addition to human genome information occurring in the population, we like to think about how it occurs in the family. And we use pedigrees, diagrams of family history information in order to put that information together. This diagram in front of you indicates men using a square, this is the father, and circles for the women. This is the mother and grandmother. Family history information can help answer questions like, did I inherit my mother's brown eyes, or my father's hands? Providers like to use pedigrees or family history information to try to determine whether or not individuals who are affected with certain diseases predict disease risk. In this pedigree, you can see that the young lady at the bottom has a brother with diabetes, a mother with diabetes, and a paternal grandmother with diabetes. All of those things taken together suggest that she's at increased risk for developing diabetes herself. In addition to using family history information to predict disease risk, health providers hope that eventually there'll be new technologies such as this microchip being held in this hand that will contain all of our genetic information. In the future, one imagines that you would go to your health care provider and he would look at that information on that gene chip and make predictions about future health risk. But right now, this is not yet possible. So why should we think about or study genomics if this is part of the future and not yet available? Well, let's talk about a particular example. Perhaps you've heard of T-baz, a famous R&B performer. You might think that her life is a breeze. She's a famous performer. She's gorgeous. She's an excellent singer and dancer. But in addition to all these qualities, she has sickle cell anemia. Hi, I'm T-baz and I have sickle cell disease. It can be painful and frustrating, but please don't give up. Talk to your doctor about effectively managing sickle cell disease and the potential complications related to treatment. She shares this diagnosis with as many as 80,000 Americans who also have sickle cell disease. And it's common enough in our country that 2 million Americans are estimated to be carriers of the condition. This means that they're not affected themselves, but that they could pass that risk onto their children. Sickle cell disease is what we call a single gene disorder. This means that it only takes abnormalities in one gene to cause the disease. We call it Mendelian inheritance when it's only a single gene. And we can study and understand how that inheritance occurs. When sickle cell anemia occurs, it causes the blood cells to become sickled or curved and that can lead to crisis, painful crisis, and disease. This is a pedigree that illustrates autosomal recessive inheritance. This is the way that sickle cell anemia is inherited and you may remember from your studies other autosomal recessive diseases like cystic fibrosis. When we talk about autosomal recessive inheritance, both parents are carriers of the condition. They're not affected themselves, but each one of them carries a non-working copy of the gene so that each time that they have children, there's a 25% chance that they'll pass on the non-working copy of the gene, a 25% chance that they'll pass on the working copy of the gene, and then a 50% chance that they'll pass on one copy so that that individual is a carrier like them. If you look at this particular family, one of their girls is a carrier, one inherited both non-working copies and is affected with sickle cell anemia and the other, their son, is not a carrier, he cannot pass it on to his children nor is he affected himself. Unfortunately, single gene inheritance is something that we understand very well, but common disease or what scientists call complex disease is literally more complicated than single gene inheritance. These are the conditions that you might know about, things that occur in your family, common diseases, cancer, high blood pressure, heart disease, even depression. In complex diseases, genetics still play a role, but there's also a large environmental component that we're just beginning to understand that contribute to the risk for these diseases. So when we give people estimates of how much their risk is increased, they're much smaller than they are for single genes and they're much more complicated. Tests are being developed now so that we can offer people predictive information about common disease, that is whether or not their risk is higher or perhaps lower as a result of the genes that they inherited. But whether or not people want that information, whether they want to have a genetic test is something that's largely hard to decide and very uncertain. Let's take the story of Russ. Russ is in his 20s and he had a routine blood test that indicated that he had a very high cholesterol level for someone his age. He began to do a little digging into his own family history and he soon learned that there was a significant family history that might predispose him for the early development of heart disease. He had already known that his father had died of heart disease in his early 60s, but after he did a little bit more digging in his family history, he learned that his father's brother and two sisters, his uncle and two aunts, were also affected with heart disease, placing him at increased risk. He decided to share this information with other family members so that they could discuss it with their health care providers and so that they might be able to find out whether or not they themselves had high cholesterol and might want to take action. In Russ's case, he was able to reduce his cholesterol level by increasing his exercise and by taking medications and changing his diet. When he thought about what this information might mean for his new son, Russ, Jr., he investigated his wife's family history and learned that her mother as well has high cholesterol. So his family is planning early that his son Russ gets started early on a healthy diet for his heart. You too can look at your own family history and think about what it might mean for your own health. There's a new tool available through the U.S. Surgeon General's Office and the Department of Health and Human Services called My Family Health Portrait. This tool is available to you on a website, https, forward slash familyhistory.hhs.gov. You can enter your family history information, but that information will only be entered into your own computer. It will not be available to the government, so it's private. You can then use that information to share your health risk information with family members or with your health care provider who might want to use it to make some recommendations. Remember, the first part of building a family history is talking to relatives. Find out what's going on in your own family history, and the best way to begin is to start with a family gathering, a family picnic, a reunion, or perhaps a holiday dinner. In addition to gathering family history information to predict disease risk, there are also new genetic tests that are available. But new genetic tests are filled with uncertainty, and it's never clear whether or not one ought to pursue a genetic test or not. Let's consider some of the reasons why somebody might choose to undergo genetic testing, and then contrast that with some of the reasons that somebody might choose otherwise. Perhaps the most important reason is that somebody might want genetic risk information. They might want a prediction about their health risk so that they can make lifestyle changes or get treatment in order to reduce that risk. In addition, for diseases more like sickle cell anemia or cystic fibrosis that we mentioned earlier, people may want to get information in order to learn more precisely about the risk of passing on a disease to their children. And genetic test information can help with that. In addition, if you have a strong family history, such as Russes, you might want to undergo genetic testing in order to reduce your anxiety about developing a condition in the family. Let's contrast those compelling reasons for having genetic testing with those reasons you might choose not to have a genetic test. For a lot of conditions today, even though we can make predictions using genetic test information, there's no good treatment or prevention strategies available. Two of the most common examples are very rare disorders, Huntington's disease, and very rare inherited forms of Alzheimer's, where we can predict risk more accurately, but there's nothing that we can do in order to help people prevent the disease from happening. That may be a reason you would choose not to have a test. There's also concern that a test result might result in false reassurance. And by this, we mean that just because you get a reassuring test result does not mean you have no disease risk. In other words, you might choose to have a test that would predict a risk for developing breast cancer. Even if that test result is negative, you don't have the increased risk factor. It doesn't mean that you won't ever develop breast cancer. It just means that your risk is lower. In addition, people may want to consider the potential risk for genetic discrimination. By this, we mean, in particular, the risk for genetic discrimination related to health insurance. Right now, there's no federal legislation that protects all individuals from being discriminated against as a result of their genetic makeup. We hope that there will be in the near future. Further, genetic information is transmitted in families. So even though you, somebody like Russ, might decide that you want your family history information in order to predict your risk, somebody else in the family might decide that they don't want to undergo genetic testing. They don't want to know their risk information more precisely. It's not going to change their health-related behavior. They're not going to do anything any differently, and it might, in fact, only cause them to be more anxious. So in a certain family, some people may want information, and others may not. And in one family, it's very hard to keep information from one another. And so if one person undergoes testing, it often provides information about others. So if decisions about genetic testing are so complicated, who is available to help us? Well, there is a group of genetic healthcare providers called genetic counselors. I'm one of them. And we're, in fact, trained to help people make informed choices about genetic tests and about other aspects of genetics and genomics that can be complicated and leave you with a great deal of uncertainty. Genetic counselors primarily work in a clinic setting. They might help people make decisions about whether or not they want a predictive genetic test in order to get a better idea of what their risks are. They may also take a family history and use that pedigree to make risk predictions about the chances for having an affected child and talk through with people what their reproductive options are. Further today, genetic counseling students are learning research methods, not just laboratory research methods so that they can interpret tests, but research about how people make decisions and how they live with the outcomes of those decisions so that we can improve the ways that we help people to make informed choices. We think that this type of evidence is valuable and important in helping to ensure that people make the best possible decisions for themselves. Recently, genetic counselors have also had an opportunity to play a role in society at large. A number of genetic counselors were involved in responding after the 9-11 events in New York City. They were involved in helping to collect family history information in order for families to be able to identify missing relatives. Colleagues at the National Human Genome Research Institute were instrumental in putting together a brochure for these families that helped them understand how the DNA identification worked and what its intent was. Similarly, our international colleagues were involved in follow-up to the disastrous tsunami in Asia. These international colleagues similarly helped to identify the remain of missing victims. I myself was fortunate enough, along with colleagues and genetic counseling students, to recently travel to Louisiana. Originally, there were 11,000 missing persons following the floods that followed down the heels of Katrina. There are currently about 2,000 individuals still at large. We were there to help families deal with the uncertainty of whether or not their relative had died and to understand the DNA sampling efforts that were undergoing in order to try and help identify remains. This was a very important role for genetic counselors in helping people recover from this disaster. In addition to these variety of different settings that genetic counselors work in, in the clinic and research and in society at large, there's a number of new ways that genetic counselors are needed in this new genomic era as additional technologies develop. I hope that you'll actually consider becoming a genetic counselor. In fact, we need more men and more minorities. So consider looking into it. It's very hard work, but it's also very rewarding. And it's rewarding because we get to help people, people like you, understand and use genetic information, genomic information, in a way that will improve your health and your quality of life. Thank you.