Q?rius Presentation - Know your family history - Improve your health

Michelle Snyder: Well, welcome to Know Your Family History, Improve Your Health. My name is Michelle Snyder, and today I'm going to be presenting with Sarah Von Shook [spelled phonetically] and Janine Lewis. And we're both -- we're all genetic counselors from the Genetic and Rare Disease Information Center, and that's funded by the National Center for Advancing Translational Sciences, Office of Rare Disease Research, and also the National Human Genome Research Institute, both of which are at the National Institutes of Health. So today, our presentation is going to be very interactive, so if you have any questions along the way, feel free to raise your hand. And we're also going to be using the clickers that you were given to answer questions throughout. And we'll see the responses on the screen, how many of you picked each response. So we're going to get started today with a pretty easy question. Have you ever created a family tree? So use your clicker and press 1 for yes or 2 for no. I'll give you a few minutes. Okay, did everyone get a chance to respond? Maybe a few more? Okay, let's -- everybody in? Here, let's see what our responses were. Oh, look at that, 80 percent yes. That's really great. So today we're going to be talking about how you can use your family history to help improve your health. We have another question here. How many chromosomes do we have? We're going to do a little basics of genetics first. So press 1 for 23, 2 for 46, 3 for 48, or 4 for 92. And as you go along, if you want to change your answer, just press the other answer and it'll override what you pressed before. Okay. Almost all in? Let's see what we got. Sixty-one percent chose 2. Now, the correct answer is 2. You're right. It's 46 chromosomes. Good job. [laughter] So, humans have 46 chromosomes. Our DNA is packaged into chromosomes. Here on the left you can see what the chromosomes look like when you look at -- under a microscope. And if we, on the right, then, sort of order them all up and pair them up, we'll see from biggest to smallest. We have 23 pairs, and one from each pair comes from our mother and one from our father. Really, a chromosome is just one long string of DNA. It's tightly packed together. So if we unwind that string of DNA, we'll see that a gene is just a segment of DNA, and the genes provide our instructions for our traits. We have 20,000 genes in our genome. Here's another question for you. True or false: There are two versions for each gene. Okay, all right. Let's see what we got. Fifty-fifty. [laughter] This is a bit of a tricky question. The correct answer is actually false. We do have two copies in our cells of each gene, but there are more than two possible versions of a gene. And I like to think of it like flavors of a gene. Somebody might have chocolate and vanilla, another person might have vanilla and strawberry. So each person only has two copies of a gene, but there are lots of copies -- potential copies available. And so some of our traits are determined entirely by genetics, things like our blood type, and things that are genetic traits might be determined by one or more genes. And then there are other traits that are a combination of our genes, our environment, and our lifestyle, too. So, for example of that would be height. So we know many genes play a role in height, but also things like your diet can really make a big difference in how tall you'll end up growing. We have another question here. Is it possible for two blue-eyed parents to have a child with brown eyes? Press 1 for yes or 2 for no. You guys are quick on this one. [laughter] Okay. I think we're all in. Let's see what the answers are. Okay, most people chose yes. The correct answer is yes. You were right. It is possible because eye color is not a simple genetic trait. It's actually determined by multiple genes. So, it's possible for two blue-eyed parents to have a child with brown eyes. So we know that we inherit physical traits from our parents and determine what we look like. But we also inherit traits that help determine our risk for medical conditions. So we know that as families, we share a lot in common. We share our genes, we share the environment that we live in, and we also share our lifestyle. So, by noticing the patterns of disorders among families, our healthcare professionals can help determine our risk and also help us take steps to reduce our risk. Now just because you have someone in your family with a condition doesn't necessarily mean you'll develop it. And the same -- the opposite, actually, is true. If you don't have a family history of a condition, you still might be at risk. So, now we're going to actually do an interactive activity. So I need my volunteers to come up front and stand here in a line. So this activity is going to be -- help us to understand risk for common diseases like type 2 diabetes. Now is this mic working? Can you still hear me? Okay. Okay, so what we're going to represent here is a continuum based on your genetic risk. So people here on the far left, they have a high risk for type 2 diabetes because they have two or more close relatives who have diabetes. In the middle here -- slide down a little bit, there in the middle. You guys are going to -- are we missing anyone? We have enough for everybody? We need one more person? Where's -- was there one more -- can we have one more volunteer from over here? I think we're missing somebody. [laughter] Somebody volunteered and then didn't come up. [laughs] Okay, so, and then in the medium risk, we have people who have one close relative. And then here on the far end, we have people who are at low risk because they don't have any family history of type 2 diabetes. So now we're going to see how your lifestyle that you choose influences -- either raises or lowers your risk. So everyone's going to choose a lifestyle from one of these cards. You can either have a positive lifestyle, a neutral lifestyle, or a negative lifestyle. Okay, so, Rosanne, you're first. What is your -- what did you choose? Rosanne Skirble: Positive. Michelle Snyder: Positive lifestyle. So that's very good. So, this is going to actually reduce her risk. She has a healthy diet and she's very active. So you're going to actually move down two spaces and stand right in between these two right here. So -- her risk is lower. She's moving down the continuum. Okay, now it's your turn. What did you pick? Female Speaker: Negative. Michelle Snyder: Negative lifestyle. She's -- Female Speaker: [laughs] Michelle Snyder: She does a lot of smoking and sitting on the couch. [laughter] So your risk is actually increasing. So you're sort of moving in this direction. [laughter] So she's already at high risk, and now her risk is even higher. Okay. Neutral. A neutral lifestyle. She has a balanced diet, she has moderate activity, so she's not going to change her risk. You're going to stay right where you are. Okay? You already picked. Negative lifestyle. [laughter] You have to have better habits. So you're going to move two spaces down. So, now her risk, she's jumped over those two. Okay, now you're next. Female Speaker: Positive. Michelle Snyder: Positive lifestyle. Okay. Let's slide down here two spaces. Next. Negative lifestyle. Okay, so now you're going to also move two spaces here. Okay. Neutral lifestyle. So you stay where you are. So, again, you have that balanced diet and you have moderate activity. So -- oh, you did yours already? This is why we have the cards. Remember who picked. Positive lifestyle. Very good. You made good choices. No, this way, this way. You're lowering your risk. [laughter] Yep, right there. Female Speaker: Negative lifestyle. Michelle Snyder: Negative lifestyle. Okay, no, this way. Two spaces here, yep. Okay. Neutral. So you stay where you are. So you're at a low risk and you're still here at the low risk category. Female Speaker: Neutral. Michelle Snyder: Another neutral. One more. Female Speaker: Positive. Michelle Snyder: Positive lifestyle. So you're already in the low-risk category. Look, you've kind of moved all the way down there. [laughter] Okay, so let's reform here. We're going to say you four are now in the low-risk category, so slide this way just so you guys can see. And then you four here are in the medium-risk category. Now just sort of bunch together. And then you four now are at the high-risk category. Okay, so now we've seen a little bit how our lifestyle influences our risk. Now we're actually going to determine who ends up developing type 2 diabetes. So, in this risk, you three are going to either sit or kneel down, okay? Can you do it for me? Thank you. [laughs] Now you two here, you're going to either sit or kneel down on the floor. And then you are going to sit down on the floor. Okay, so for those of you who are standing, unfortunately, I've got some bad news. You developed type 2 diabetes. And you can see that most of the people who develop type 2 diabetes were in the high-risk category, but that there were some people from all risk categories, even in the low risk there was one person [laughs] who developed... [laughter] And so who was -- who's sitting and who had a negative lifestyle? Did anyone pick a negative lifestyle, for those of you who are sitting? Female Speaker: No. Michelle Snyder: No. But if you had, there are some instances where someone might have a very negative lifestyle, but they still don't end up developing type 2 diabetes. And then for those who are standing, did anyone have a positive lifestyle? Rosanne, she did. So, she, you know, she made good choices, but it still -- it wasn't enough to prevent her from developing type 2 diabetes. So we just have a few things here. So, just so that you know here, this sort of demonstration -- [laughs] it's okay. [laughter] Your family history can be used to determine your risk for complex common diseases like diabetes. And your lifestyle can help make choices to either raise or lower your risk. So, not everyone at high risk developed the condition. There was one person who didn't. And I like to say low risk doesn't equal no risk. So you still do have a chance, it's just less of a chance than if you were in the higher risk categories. So thank you for all my volunteers. I really appreciate it. Oh, yes, here, take off your cards. Collect them. Yeah, just put it down. It's fine. Okay. Sarah is going to take over. Sarah Von Shook: Hi, I'm Sarah. So what might we expect to find when we do our family health history? Some of you may already know because many of you have already done them. But it wouldn't be a surprise if, when you do your family health history, you find conditions such as these. These are common disorders, things like heart disease, asthma, diabetes, cancer, kidney disease, autoimmune conditions. We also call these conditions complex. And just like our risk continuum activity demonstrated, we know that there are many factors that come to play in causing these conditions. So we know enough to know a little bit about risk. We know that for stroke, that diet, exercise, and behaviors like smoking are risk factors, as well as our genetic information. But when it comes to really explaining or understanding exactly how our genes are contributing to risk, it's a very difficult problem to solve. And there's a lot of bright people that do clever studies to sort this out. And if you follow the biomedical literature or even pay attention to the news, you often hear little bits about knowledge that we glean about exactly how our genetic information is contributing to these diseases. But when we're talking about family health history, what we hope to gain from doing it is to get a general sense of risk -- low, medium, or high -- for when we find a common complex disorder in our family. And one way we can do that is -- one thing we've done in our studies and observations is we recognize that there are some families that are at a particularly increased risk based upon their genetic information. And so we can study these families, we can observe certain characteristics, and use our knowledge of these families to help identify other families that may be at a similarly increased risk. So, not thinking of you specifically but collectively, what might we find if we do our family health history? So there's been a few studies that looked into this. And I want you guys to give me your best guess, so grab your clickers. How many people who complete a family health history have a moderately increased risk for a common condition? Is it 1) 50 percent; 2) 25 percent; 3) 5 to 15 percent; or 4) less than 5 percent? All right, let's see. So, most people guessed 50 percent. In fact -- so, estimates suggest that as high as 3 in 20 people who complete a family health history are identified as being at a moderate increased risk. So 3 is the correct answer. All right, similar question. Best guess. How many people who complete a family health history are found to be at a high risk for a common condition? Is it 1) 25 percent; 2) 15 percent; 3) 1 to 5 percent; or 4) less than 1 percent? You guys are much quicker this time. Over -- all over the place here. So, again, based on studies, it's estimated that about 1 in 20 people, or around 1 to 5 percent, who complete a family health history are identified as being at a high risk for a common condition. By moderate risk, we're talking about a two- to five-fold increased risk. High risk, we're talking about up to 50-fold increased risk for a condition. So by doing nothing more than taking the time to collect information on your family, a substantial amount of people are going to identify information about their family health history that they can now discuss with their doctors, that they can do research, explore more about what that might mean for them in their health. Okay, so we do a family health history. Unless we're lucky, we're probably going to find conditions like we saw on the slide, some common complex disorders. But what about genetic conditions? And, of course, there's the argument that all conditions are genetic. But I'm talking about single-gene disorders, things like cystic fibrosis or Huntington's disease. So, family health history, for ages, has been used by health professionals and by genetic professionals to assess specific risk, defined risks for families that have a history of genetic conditions. Maybe we can refer to these as single-gene disorders. So we -- unlike complex conditions, single-gene conditions, we may know the gene. These single-gene disorders often run in families in one of several specific patterns. So we can use our information of the genes, our understanding of the cause, and understanding of the patterns to make specific, more defined risk estimates for family members. But, of course, and you probably are all thinking this, single-gene disorders are rare. So maybe, you know, if we do a family health history, you know, many of us are not -- possibly not going to find a single-gene disorder in their family. But this isn't always the case. And some good examples: There's 2 million Americans -- mostly African Americans -- that are carriers of a mutation in a beta globin gene. We call them to be sickle cell trait -- have sickle cell trait. And you may ask why is that so common, and why are so many people that are carriers have African ancestry? And perhaps you've heard that the reason is having the trait actually can offer some protection against death by malaria disease. And we also know that Africa has been hard hit by malarial disease. So you can imagine, if you're, you know, if you are born with this trait, and you are exposed to malaria and you become sick, you have the trait, you're more likely to survive, so you're more likely to grow up, you're more likely to have your own children. And every one of your children would have a one in two chance of inheriting that trait, and we can see that pattern again and again. And over a population and over an amount of time, then you start the -- this trait becomes more prevalent. Of course in the United States, you're not going to find out you're a sickle cell -- you have sickle cell trait because you survived malaria, but probably we -- because perhaps you are tested or you have a family health -- a family history of sickle cell disease. We know that one gene change in this beta globin gene can improve survival and is actually an advantage. But having two changes can cause a condition called sickle cell disease where the sickled cells, or the crescent-shaped cells, can become trapped in blood vessels that go to your limbs and organs and can actually cause significant pain and damage to the body. So this -- when we're thinking about family health history, sickle cell trait is a good reminder that when we're collecting our history, to think also about our ancestry, about our ethnicity because sharing that information with your doctor, we know that can -- may lead to discussions about additional testing that you may -- may be available to you because we know that some single-gene disorders are more common in people of certain ethnicities and races. Okay, so you guys may recognize this face. This is one of my favorite stay-at-home moms. This is Claire Dunphy from the popular television show "Modern Family." And we're going to talk a little bit about how you go about collecting a family health history. And we're going to do a very simple family history using Claire. We won't go into -- there -- I hope to just glean some highlights and some things to think about as you're collecting your family health history, but I want to point out that there are some wonderful resources that will go in much, you know, in great depth. And, in fact, we have some pamphlets here today on our table that discusses in-depth some of the thoughts and things that might come up as you think about approaching your relatives about talking about their health history. If you have relatives that aren't here today and you want to introduce them to the concept of family health history, these are great tools for doing that, too. You'll also know, as we go along, that I'm going to put Claire's family health history in a classical format called a pedigree. We're not to get hung up on how we do these, where to use circles and squares and lines and dashes because, again, there's a great resource online that can do it all for you. So My Family Health Portrait is a website by the U.S. surgeon general. You plug your family health history information in. You can choose to have that sent to a pedigree and they'll display it for you. You can print that and share that with your family and physician. And then a slightly different resource, this is just -- there's a number of great resources out there where you -- this is a -- this is Family Healthware, and this was developed by the Centers for Disease Control and Prevention. The -- what it does is it'll collect your family health history information. You answer a few little questions, and it's going to generate your risk for six common complex disorders -- low, medium, high -- and give you some concrete suggestions about how you might address that risk. Okay, so, back to Claire. Who should Claire be thinking about? Well, she should be thinking about her first-degree relatives: her children, parents, siblings. Unless Claire has a clone or identical twin, these are going to be the most genetically similar people on the planet to her. They share half of their genetic information with her. She's going to also want to be thinking about her second-degree relatives: her grandparents, aunts, and uncles, any half siblings -- so Claire has a half-brother, Joe -- nieces and nephews. So if you've watched the show, you know she has a niece, Lily. And this brings up a good point. So we know that Lily is adopted. And a lot of us finds ourselves in a position where we may not know our biologic relatives', you know, health history. Maybe we also are adopted. And true, you can sometimes talk to your parents and learn a little bit, or you can contact your adoption agency and learn a little bit. But what you can also do is you can use a family health history to collect information about some of these factors that we know affect risk. So we know that in families, things like diet and behaviors and environment, these are all factors that can affect risk. And these are things that she could document in her family as well. I'm going to just mention cousins. Sometimes people -- sometimes it's recommended to include cousins as well. Cousins are actually third-degree relatives. They share one-eighth of their genetic information with you. But you can get a full, like three-generation image or picture when you include cousins. So that can sometimes be helpful as well. Well, for the same reason about shared environment and let's -- I want to throw all of our other favorite characters in here. So now what? What are some things that Claire needs to be thinking about when she's collecting her family health history? So she's going to want to be thinking about and asking about common, you know, complex disorders that may be in her family, like the ones we saw in the slide earlier. She's going to be watching for anyone in her family that may have been diagnosed at a early age. So, for cancers, a lot of times that's younger than 50. She's going to look for unusual presentations. So, a relative that's had multiple cancers or maybe -- like, for example, bilateral breast cancers, or unusual presentations, like a male relative with breast cancer. She's going to be thinking -- she's going to want to document any cases of early death in her family. And also when we're thinking about common complex disorders, and you, you know, recognize there are relatives in your family with these conditions, think about is there any other risk factors in that -- that that person has that might account for that disease. So if you're finding a relative that has high cholesterol but yet they exercise and they eat healthy, that's something to be watching for as well. It's easy to forget about pregnancy difficulties, but you would want to know has anyone had trouble becoming pregnant or staying pregnant, any conditions diagnosed in newborns, infants, or children, and consanguinity, which is just a big word. It's the reminder to ask your mom and dad, ask your grandma and grandpa if they were in any way related. Were they first cousins, second cousins? When we think about consanguinity, we're not so much thinking about risk for complex disorders, but we're thinking about risk to, you know, future offspring. And the thought is that we all carry some recessive gene mutations, but you don't -- we don't always know it. But if you had a child with someone that carried the same recessive gene mutation, then you would -- your children would be at risk for developing that rare single-gene disorder. And so, as you can imagine, if you share a relative, then it's more likely that you might share some of these recessive gene mutations. So, grab your clickers. Parents who are first cousins are roughly how many times more likely to have a child with a significant birth defect than parents who are unrelated? Is it 1) more than 50 times; 2) 10 times; 3) 5 times; or 4) 2 times? Looks like we got most of our responses in. So, for all of us, for couples that are unrelated, the chance that you might have a baby with a significant birth defect is around 2 percent, so 2 in 100. If you're first cousins -- let's see. Our guess -- it looks like our largest guess is 10 times and then also at 2 times. So if you guessed twice as likely, you are right. So some people find this kind of surprising. So if you are first cousins, your chance is about 4 percent, so about 4 in 100. Okay, here's another question for you. So I have no family history of breast cancer or ovarian cancer on my mother's side, so I'm at a low genetic risk for these cancers. True or false? All right. Let's see what we guessed. False. That's right. And do you guys know why? Well, that's because you have to consider also the father's side. Even though a particular condition might occur in one gender or sex, you have to -- you can still inherit risk for that condition. So, for example, if you had breast -- in the example of breast cancer, you have to consider both your mother and father's side of the family. Okay, so back to Claire. What are some of the information that she needs to be sure to document if she's doing her family history? She wants to write the name of the condition. She wants to write the age that the condition was diagnosed, and this can be an estimate. Was it 50s or 80s? The age -- if a relative has passed away, the age of death. And you also want to be sure to include people that are healthy. So if you have an aunt that's lived to 110, that's helpful information as well. And as we discussed before, ethnicity or ancestry is also important to include. So, where should Claire start? All of this in mind, what might she be thinking about? Well, a great place to start is just to ask yourself if you think about your family, is there something that comes to mind that you're already concerned about? Maybe you think there seems to be a lot of, you know, this in my family, or maybe you have a relative close or distant that's been diagnosed with something particularly challenging and you're worried that -- you know, you wonder about your and your family members' risk. So if Claire would start here -- and if you were watching season four last year around this time, around Valentine's Day -- Claire was -- Claire and -- Claire was -- had this evening of fun planned but she kept having these dizzy spells. And by the end of the evening, she passes out and she ends up in the hospital, and she's diagnosed with Wolf-Parkinson-White syndrome. So prior to this day, Claire probably had never given much thought to this condition. She learns it's a heart disorder. Now when she's thinking about her family health history, she decides to ask other relatives, and she learns that her mother, in fact, actually has this as well. And so what does Claire do with this information? How does she make sense of her family health history? And with that, I'm going to turn it over to Janine. Janine Lewis: How's everybody doing? All right, well let's see. Now Claire has collected this amazing family tree. She's got some really good information, and so now what? What do you do with all that information? So, one thing that's come up for Claire is that there is a condition, Wolf-Parkinson-White. She probably doesn't know very much about that. So probably her family members don't know much about that. It's probably one of those conditions that nobody's ever heard of. So where would Claire go to look for some information about Wolf-Parkinson-White syndrome? Well, the good news is there's a lot -- it's a lot easier to find good health information, thanks to the Internet. Of course there's also -- it's not too hard to find bad information as well. So one place to start that we know is trustworthy is MedlinePlus. I don't know if everybody's been to MedlinePlus or familiar with MedlinePlus, but it is a tremendous resource for information about health conditions, categorized in health topics, and also disease specific information. They have very cool videos and tools that you can really use to understand health conditions better. So Claire might want to go here first to look up information about Wolf-Parkinson-White syndrome. Also, the institutes: The National Institutes of Health are made up of 27 institutes and centers. And each one of those often are focused on a particular disease or a particular organ system. So, if I were Claire, I probably would go to the National Heart, Lung and Blood Institute to see what information they have on this condition. And then advocacy organizations are also a great resource for learning more. Here's the American Heart Association -- I think I would check out that -- as well as the Heart Rhythm Society. And probably after going through those resources, which is really the tip of the iceberg, I will learn that Wolf-Parkinson-White syndrome is a form of arrhythmia, or it's an irregular heartbeat. It's caused by an abnormal electrical pathway that causes a dysfunction in the way the heart is beating, makes it beat faster than it should. And that can put someone at risk for a heart attack or sudden death. Most of the time Wolf-Parkinson-White does not run in families. Most of the time there's no concern about that, but it can be associated with other conditions. So she would be evaluated by a cardiologist. They'd do a full cardiac workout for her that might include an echocardiogram, an EKG, and maybe a monitor on her heart to see how her heart does over a period of time. And they might find something else going on that's contributing to the Wolf-Parkinson-White syndrome. And if that's the case, and the fact that her mom also has Wolf-Parkinson-White syndrome, she may be -- their family may be one of the few where Wolf Wolf-Parkinson-White is actually running in the family. And there is genetic testing, when you fall in that category, for some genes that contribute to Wolf-Parkinson-White syndrome. And if they -- if Claire has testing, and she would probably be offered that by her doctor, and if they find a mutation in a gene associated with this condition, then they would have a better idea of how the condition might progress for her and her mom. And they would also have a better idea how to monitor her. And it would also give other family members the opportunity to have a genetic test for this condition if they happen to be at risk. We know that it can run in a dominant way, so it's caused by a single gene. So, you usually, in familial Wolf-Parkinson-White syndrome, you inherit it from one of your parents. So if there's someone who's at risk, even if they haven't had any symptoms, they could go and have a genetic test. And then they would have more information about whether they're going to develop this condition, their cardiologist would be involved, and then they would probably monitor things differently. So in this case, it's really helpful, you know, to have your family history, to know that you might be at risk for a familial form of a condition, and to find out, you know, what you might do to learn more about that. Another test for you. So, speaking of genetic testing, here's one. Genetic testing can identify all potential genetic conditions. Test me for everything, Doc. What do you think? 1 is true; 2 is false. All right. Let's see. How did we do? Ah, most people got that one right. And genetic testing is available for lots of conditions, just not everything. And thanks to the Human Genome Project that finished in 2003 and some follow-up projects that -- through the National Institutes of Health, scientists have a lot of great tools that helps them find new genes that are associated with diseases. We're now up to about 5,000 genes that are known to contribute to disease. And that number is probably going to continue to grow and grow. So we've talked a lot about -- we've talked about genetic conditions that are caused by single genes. And we've also talked about conditions that are complex and that are related to multiple genes. And how we live our life and what we eat and what we do can contribute to better health. So, some kind of interesting tools have -- are developed now for -- one of them was the Healthware -- CDC Healthware that Sarah mentioned earlier. There are some other tools that are also out there that you can plug in all this family history information that you have, and as well as how you, you know, what you like to eat and, you know, some -- just how you live your life, that using this tool you can find out what your risk might be for type 2 diabetes. Here's another one from the Washington University School of Medicine, who takes all of that information. And you can get more information about what your risk might be for a number of things: emphysema, heart disease, osteoporosis. And then the National Cancer Institute has a breast cancer risk tool that you can plug in this information. Typically, this is used by doctors, healthcare providers, but it is available. And they just suggest that you bring any result back and talk to your healthcare provider about what you learned. And so when you talk to your healthcare provider, they, you know, if you have a concern or that you've used one of these tools and it looks like you may be at an increased risk for one of these conditions, you know, your healthcare provider can help you know if there's other tests that they might be able to do to further categorize your risk. Maybe there's more screening that you might want to do. If it's something like osteoporosis that you have an increased risk for, you might have more bone scans or an x-ray. Maybe there are -- you want to take a good look at your diet. Make sure you're including enough vitamin D if it's osteoporosis, or green leafy vegetables, so, lots of vitamin K. And almost on every list of what to do to stay healthy is getting lots of good exercise. For osteoporosis, for example, you want to get weight-bearing exercise so you build up your bone mass. And never smoke. [laughs] So, other things just to know about. So there's a single gene in the family, a genetic condition. There are a number of genetic conditions that are tested for in every state through -- whenever a baby is born, they are screened through newborn screening for a handful of genetic conditions. And that -- the list is growing. And so sometimes conditions that are in the family -- check your newborn screen to see if it's already been tested for. And the treatments. There are a lot of good treatments for common conditions. Rare conditions, maybe not so much. So get involved in research. If there aren't good treatment options, there are some places to go to find out what clinical studies are going on and how you might get involved to understand a condition better and to help in the development of new treatments. And finally, share all this information that you have with your family. Some families don't like to talk so much, and some families like to talk a lot. So, every family's different, so you do what you can with what you got. And save your family history in a good place, in a safe place, so that you can go back to it. And you want to keep it up to date. You know, we always learn new things about how we're -- how our health is. So we want to, you know, ask our families maybe Thanksgiving, Valentine's Day, phone calls, you know, just check and see how everybody's doing. And mark it down; this is important information. So that is the end of our formal presentation. I think we have some time for discussion and if you guys want to come on up and we can field any questions you might have. We have 15 minutes or so. I also want to let you know that we have some good materials here on the table that -- some of them that we mentioned. We have -- the resource sheet has a lot of the websites that we've mentioned in the talk. So if you want to grab one of those to see -- to take that home with you so you have that as a resource. And the other thing I want to let you know is we will all be upstairs at 3:30 in the genome zone, and we will be available to talk to people one on one if you have questions. We also have other genetic counselors here who are from the Genetic and Rare Disease Information Center, who will be at tables. So we can draw your family tree if you want us to so you have that to take with you. And you can ask any questions that you have. So I'll open it up for any questions that people have. Male Speaker: This is a little bit of a curve ball, but is there any disease that [inaudible] mitochondrial DNA? a great advocacy group that is all for mitochondrial diseases where you can learn a lot about different good lifestyle and still get it, isn't that [inaudible] interesting because, I mean, you're kind of eliminating a lot of uncertainty, you can zero in right on what is causing that disease. Sarah von Shook: That's a good point. And if -- that's actually something that -- Female Speaker: Could you repeat the question? Sarah von Shook: Oh, I'm sorry. So you're saying that if you're at low risk and you have a healthy lifestyle, and you can still get the condition, sort of how is that possible? Is that what you're saying? Female Speaker: I think that that is something of interest. And even -- so if that would happen to you or a relative, I mean, just not -- there's certainly two elements to that. It's like, you know, science there to figure it out, what's going on. And then there's where we are saying, well, if my relative -- if that's my relative's case, like, what does that mean for me? And that's absolutely something that your healthcare provider, if they were going to do a family health history, would be looking for relatives just like that. If you're having -- if you have relatives that are diagnosed with a condition that have no other risk factors for it, that's one thing that they're looking for in assessing your own risk, and certainly if that was you as well. But in the context -- but in sorting out -- certainly any time a research study is done, I mean, there's different criteria and things that they would be looking for. Female Speaker: And some families have, in that case, genetics was playing more of a role in developing that condition, whereas in others, you know, genetics may be playing less, then your lifestyle is playing more of a role. So it varies. Female Speaker: Yeah, or environment. Female Speaker: Yep. Female Speaker: Any other questions? Male Speaker: This is unrelated to the other -- my mother, my uncle, and my grandmother -- my mother's mother -- all ended up with -- had Parkinson's disease. And I took molecular biology a while ago, and at that -- when I took that, there didn't seem to be any heritable traits for Parkinson's. So, it was probably environment. They all grew up on the same -- they were all in the same house. So that's what I just always assumed but we never really had a link to that. So, I mean -- Female Speaker: Possible environment or you always have to look at the tests too and what is it that they're testing for. May there be -- might there be something unique in your family that isn't being captured by the tests that are there? And so it's true. I find it -- one thing that drew me to the genetic -- field of genetics or biomedical sciences, the pace of discovery. And I can tell you, and, you know, if I had gotten a question seven years ago about a particular disease, and I looked it up and tried to figure out what, you know, about risk factors and testing, I would get one answer. I go back there today, on that same condition, and I do the same research and see what's out there. It's completely different. And this is for myself, too. So I just -- so when I'm thinking about my family history, I think about the conditions in my family. And I don't close the book when I've done one assessment. I kind of keep it open. And I don't take that for -- I don't take my knowledge for granted when people call in at the information center and ask me about risk because I always do a fresh search, because if there's one thing I know, the information changes. The tests change. Female Speaker: And they're learning more and more every day. Goes very fast. Male Speaker: Are there some reputable companies that one can get DNA testing and find out if they're predispositioned to diseases? Female Speaker: There are -- oh, are there reputable companies where you can go and have a genetic test? Male Speaker: Yeah, a lot of this been drive by -- the 23andMe, the Genographic Project. The FDA just put in a junction against 23andMe for their -- saying they could bring back this type of information. So, where do we get this information, if we could get the genetic test. Female Speaker: Well, and how do you make sense of what you get? And that's the challenge. So there are tests that offer -- that offer something that -- this blanket screen. And actually I think we'll see more of it. And, like, there are some hospitals. Cedar Sinai now has a expanded newborn -- I mean, screen that they can offer a couple prior -- you know, preconception counseling, 100 conditions. You know, when I was in school five years ago, that was -- that did not exist, right? So it kind of gets to -- but you still have to -- you -- the danger is taking -- is making sure you have a full understanding of what the information is that you're getting, because if you don't know anything about genetics, and they give you information, you -- like me, living in the field, I can -- I'm kind of skeptical because I see how information changes and our knowledge changes. And one minute we think this. Ten years later, it's -- the paradigm has shifted. And so I think part of it is you -- yes, there are tests that -- it's hard to predict how your result is going to help you individually. Is it going to confuse you? Is there information that your doctor can really use? And so it's not always even about what companies offer the best test. It's kind of what information is available to you as a patient, consumer, to make sense of what you find and making sure that there's systems in place that you don't misinterpret it because you might make different decisions. I mean, it may change how you, you know, you may be assuming your risk is much higher than it is, given a test result or vice versa, that you're safe and yet, you know, you're still -- Female Speaker: And the other piece of that is this is very new. They're learning. It's very early in the game terms of determining genetic susceptibility based on your genetic makeup. So they're learning more and more. They're getting a lot more information about it, but it's still very, very new. So the question is, is the information that you're getting back really accurate? Is it really reliable? Is it something you can really say, "Yeah, I do have an increased risk"? Because, you know, there -- it depend -- I'm -- there are studies where you've gone to one company and then another company and another company and they tested you for the same disease, and you get three different risks. So, you know, it's still early in the game. So I think that's in the future, probably something that will be available to people. And the costs of doing those kinds of tests continue to go down. So used to be something you'd have to pay, you know, a Ferrari price tag for. And now it's more like, you know, a Nintendo. [laughs] So -- and then, you know, it's probably going to be soon, you know, a pack of gum. [laughs] Maybe not that low. But, you know, so it's definitely coming. I think it's a little early in the game at this point, which is why 23andMe, you know, FDA, you know, wanted to take -- step back a bit, take a look and see, is this really giving us reliable information? Male Speaker: Now, is the genetic information that you get back concerning ancestry for the same test, is that more accurate than the medical information you glean from it? Female Speaker: I'm not -- I don't know for sure how reliable your ancestry data is. I'd say it's, you know, I'd say you have to look at what they're telling you in the company's documentation and make that judgment yourself on how reliable it might be. Any other questions burning? And of course we will be available afterwards if you have one-on-one questions you'd rather ask at around 3:30. Female Speaker: Thank you for coming. And thank you for taking part with your clickers. Female Speaker: Oh, give the clickers. Oh, we have a couple more questions before you go, before you turn in your clicker. Gene therapy is available for and can cure many genetic disorders. What do you think? Oops. Oh, sorry. [laughs] Jumped the gun. Fifty-three percent said false. All right. I think that is right. There are -- gene therapy is really new. Talk about new. And there are some diseases that can be -- gene therapy is used for, but it's only a handful at this point. Let's see what else we have. Female Speaker: This is my favorite question. Female Speaker: Okay. This is one near and dear to your heart, too. Female Speaker: This one is -- does having twins run in the family? Is it either no, identical but not fraternal twins; fraternal but not identical twins; or both? And my husband is an identical twin so I really need to know the answer to this because I need to know whether we're going to have twins or not. I hope not. I had to do my research on this one. And I think almost everybody has responded. Couple more? Punch them in? See what you said. Most people said no, a few people said both. The answer is actually 3) fraternal but not identical. So, we know that fraternal twins is caused by when a woman releases two eggs at the time of her ovulation. So that can actually be inherited. It's a genetic trait for releasing multiple eggs, so it can run in families. So it -- and remember it's coming -- it's obviously expressed in women but it can be inherited from both men and women. So it sometimes may appear to skip a generation if there was a father, and then who had a daughter, and then she had twins. So, identical twins is caused by after conception when the embryo splits in two. And that's not thought to be inherited, although there might be some -- there are some families who do have a, you know, a slight risk. But right now they think that it's just really more of a chance to have that happen. So, the jury is still a little bit out. Bur for now, we are under the impression that it's fraternal but not identical twins. So, phew, I'm safe. [laughter] So I'm happy about that answer. Female Speaker: Okay. I think that's it. Then also just -- here's just the slide that lets you know that if you need more information, there's a lot of great booklets here. But if you want to order more for some reason -- you think they're useful for something that's coming up for you. I know some of you are classroom -- are in the classroom. These may be useful for you to -- these are -- these booklets: the Guide to Family Health History and A Guide to Genetics and Health. These are both really informative and helpful and useful books. So... Female Speaker: Yeah, and we also want to say in our handout here too, we do have information about the center that we work for, the Genetic and Rare Disease Information Center. We call it GARD for short. And we're all available every, you know, day. We can -- you can call and ask us questions. You can write in -- Female Speaker: Yeah, I think it's stuck out there. Female Speaker: Yeah, and we give individual answers to every question that comes in. So we're more than happy to help. Thank you for coming. Appreciate it. Female Speaker: Thank you. Don't forget your clickers. [applause] Female Speaker: Yes, hand in your clickers, too.