Should I or Shouldn't I? Wrestling with Giving Genetic Tests as Gifts
The Results Are In For My Genetics Quiz
Tackling the Cause of Cystic Fibrosis One Mutation at a Time
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The program is part of an ongoing collaboration between the \u003ca href=\"http://genetics.stanford.edu/\">Stanford Department of Genetics\u003c/a> and \u003ca href=\"http://www.thetech.org/\">The Tech Museum of Innovation\u003c/a>. 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Wrestling with Giving Genetic Tests as Gifts","publishDate":1356969608,"format":"aside","headTitle":"QUEST | KQED Science","labelTerm":{"site":"quest"},"content":"\u003cfigure id=\"attachment_48105\" class=\"wp-caption aligncenter\" style=\"max-width: 640px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/12/31/should-i-or-shouldnt-i-wrestling-with-giving-genetic-tests-as-gifts/gift/\" rel=\"attachment wp-att-48105\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/12/Gift.jpg\" alt=\"\" title=\"Gift\" width=\"640\" height=\"369\" class=\"size-full wp-image-48105\" srcset=\"https://ww2.kqed.org/app/uploads/sites/39/2012/12/Gift.jpg 640w, https://ww2.kqed.org/app/uploads/sites/39/2012/12/Gift-400x231.jpg 400w\" sizes=\"(max-width: 640px) 100vw, 640px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Giving the gift of a genetic test can be a tricky business.\u003c/figcaption>\u003c/figure>\n\u003cp>When \u003ca href=\"https://www.23andme.com/\">23andMe\u003c/a> offered their DNA test for just $99, I started to think about giving it for Christmas presents. It was an easy decision to send one to my dad (although I’ll be curious to see if he’ll do it). What was much trickier was deciding whether to give one to my 15 year old son.\u003c/p>\n\u003cp>There are a number of reasons I wanted to give away this test to my relatives. The first is that I want to see how the DNA got passed down from my dad to me. And how it got passed from me to my son.\u003c/p>\n\u003cp>You might recall that we all have 23 pairs of chromosomes. We get one of each pair from our moms and one from our dads.\u003c/p>\n\u003cp>When we pass this DNA down to our kids, the DNA in each pair goes through a process called \u003ca href=\"http://genetics.thetech.org/ask/ask435\">recombination\u003c/a>. This is where DNA is swapped between the two chromosomes in a pair. The end result is that the chromosome 1 that I got from my dad is a mix of his two chromosome 1’s. The same is true for the chromosome 2 that I got all the way through chromosome 22. (The Y I got \u003ca href=\"http://genetics.thetech.org/ask/ask450\">passed pretty much unchanged\u003c/a>.) \u003c/p>\n\u003cp>It would be so cool to see this in action with my own DNA. Seeing a concrete example of something that has largely been theoretical up to this point somehow makes it more real. Especially with my own DNA.\u003c/p>\n\u003cfigure id=\"attachment_48110\" class=\"wp-caption alignright\" style=\"max-width: 250px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/12/31/should-i-or-shouldnt-i-wrestling-with-giving-genetic-tests-as-gifts/africandna2/\" rel=\"attachment wp-att-48110\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/12/AfricanDNA2.jpg\" alt=\"\" title=\"AfricanDNA2\" width=\"250\" height=\"313\" class=\"size-full wp-image-48110\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Look ma, I'm a little bit African! The pink at the end of one of my chromosome 11's indicates an African ancestry.\u003c/figcaption>\u003c/figure>\n\u003cp>At least this was the case when I got the whole family tested for the gene responsible for most cases of red hair, MC1R. It was so satisfying to see that my wife and I were \u003ca href=\"http://genetics.thetech.org/ask/ask44\">carriers for red hair\u003c/a>, that we each passed a red version of MC1R to our red haired son, that our older son got one copy and so was a carrier like us and that our daughter didn’t get a red MC1R gene. Even though I knew my wife and I were carriers and out red haired son had two red copies, it seemed more real once I saw the genetic results.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>The test can also tell us something about our ancestry. For example, it was cool to see that the tip of one of my chromosome 11’s actually comes from an African ancestor. I am 0.1% African. How cool is that?\u003c/p>\n\u003cp>Getting my dad tested would tell me if I got that from him. Undoubtedly I did as his family is from Arkansas and my mother’s is from Berlin, Germany but still it would be nice to confirm. My dad’s DNA could also tell us whether an old family legend about us being related to the outlaw Sam Starr is true.\u003c/p>\n\u003cp>See Sam Starr was half Native American which would mean we would have some Native American DNA too. As I talked about in a couple of previous blogs \u003ca href=\"http://ww2.kqed.org/quest/2009/09/14/genetic-tests-when-no-means-maybe-part-1/\">here \u003c/a>and \u003ca href=\"http://ww2.kqed.org/quest/2009/09/28/genetic-tests-when-no-means-maybe-part-2/\">here\u003c/a>, I couldn’t see Native American in my own DNA. One reason for this might be that I am one generation too far for the test to be able to see that DNA in mine. Maybe since my dad is one generation closer, we could see the Native American DNA in his.\u003c/p>\n\u003cp>OK, that was the fun stuff. Now on to why I might be hesitant to get my son tested. It has to do with what our DNA can and can’t tell us about our future health risks. And how these findings are packaged.\u003c/p>\n\u003cp>One of the things you can quickly learn is whether you are a carrier for some deadly genetic disease like cystic fibrosis. They don’t test for every possible variant so a negative result may give a false sense of security. Still, it would be good to know about the common ones, right? I guess maybe…\u003c/p>\n\u003cp>This kind of knowledge is important for my son to know once he’s married but does he need to know about his genetic burden now? Is he ready for it?\u003c/p>\n\u003cfigure id=\"attachment_48121\" class=\"wp-caption alignright\" style=\"max-width: 182px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/12/31/should-i-or-shouldnt-i-wrestling-with-giving-genetic-tests-as-gifts/alzrisk/\" rel=\"attachment wp-att-48121\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/12/AlzRisk.jpg\" alt=\"\" title=\"AlzRisk\" width=\"182\" height=\"312\" class=\"size-full wp-image-48121\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Good news for me and my kids. I am at a lower risk for Alzheimer's and I will for sure pass at least some of that lowered risk to my kids. \u003c/figcaption>\u003c/figure>\n\u003cp>And what about straight up genetic diseases? I found out I am a carrier for something called hemochromatosis. If my wife is one too then my son has a chance of getting the disease although even if he got the \"bad\" versions from my wife and me he still only has a chance at the disease. (Hemochromatosis is incompletely penetrant.) \u003c/p>\n\u003cp>At least with this one there is an easy remedy if you end up with it. You just have to give blood often and you are OK. But what about diseases you can’t do anything about?\u003c/p>\n\u003cp>Imagine he finds he has two copies of the APOE4 version of the APOE gene. These people are much more likely to end up with Alzheimer’s later in life. Should a 15 year old be subjected to that worry for the rest of his life?\u003c/p>\n\u003cp>Now that one is only theoretical. Because \u003ca href=\"http://ww2.kqed.org/quest/2011/04/25/better-left-unknown/\">I have two copies of the “good” version\u003c/a> of APOE, APOE2, I know at worst he’d have a good and a bad version (APOE3 is the neutral version). Of course then my wife would know she probably carries at least one APOE4 and now she can start to worry. And maybe feel bad that she passed it on to her son…\u003c/p>\n\u003cp>The list of issues like this goes on and on. I haven’t even dealt with things like DNA differences that led to a 1.5 fold increase in prostate cancer or macular degeneration or who knows what else. Is he ready to get that kind of information and, more importantly, to understand the limitations of the information? \u003c/p>\n\u003cp>For example, just because he has a marker that more people who ended up with prostate cancer had, that doesn’t mean that the marker means the same thing in him. His genetics are his own and everyone will have a different risk for these sorts of multi-gene traits. And even if he is twice as likely to get brain cancer, does he know what those numbers mean? Or will his lack of understanding make him depressed because he thinks he will most likely end up with brain cancer? Yikes.\u003c/p>\n\u003cp>To test out how ready he was, I decided to share some of my results with him while my eleven year old daughter listened in. First I showed them the ancestry and traits like lactose intolerance. They thought these were very cool (and they were right). I also showed them how my DNA showed that my blood type probably was A+ and that I was a carrier for O and Rh negative blood type. We got into a nice discussion about what that means for them. Neat.\u003c/p>\n\u003cp>Then I moved onto the disease section. This is where things started to get ugly.\u003c/p>\n\u003cfigure id=\"attachment_48126\" class=\"wp-caption alignright\" style=\"max-width: 200px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/12/31/should-i-or-shouldnt-i-wrestling-with-giving-genetic-tests-as-gifts/decriskconf/\" rel=\"attachment wp-att-48126\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/12/DecRiskConf.jpg\" alt=\"\" title=\"DecRiskConf\" width=\"200\" height=\"225\" class=\"size-full wp-image-48126\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">What does it all mean?\u003c/figcaption>\u003c/figure>\n\u003cp>I learned pretty quickly that my daughter did not have the right personality for these sorts of tests (at least not yet). She focused in on the various diseases, learning all the ways I could one day die and started to get very worried. I tried to use my understanding of genetics to tell her that these are just risks, they aren’t a for sure thing but I was getting nowhere. She tends to worry a lot and this simply gave her more to worry about. Hopefully she will forget about this and move on.\u003c/p>\n\u003cp>My son was a different matter. He was very interested in things without worrying too much but he was taking some of the health things too literally. For example, my results showed a significantly increased risk for late age macular degeneration (a nasty eye problem). Scary.\u003c/p>\n\u003cp>Except that again, this is the average risk of lots of people with varying genes who share this marker. My own risk is my own and is dependent on lots of other genes (and the environment!) besides this one. So basically I take these results with a grain of salt, waiting for more data to see if it is meaningful or not. \u003c/p>\n\u003cp>But he homed in on these results and decided they were set in stone. He saw a bunch of yellow stars that indicated that 23andMe was very confident in this result and so assumed that that meant they were very confident that I had the chance for this disease they quoted. \u003c/p>\n\u003cp>I explained that this is not the case. 23andMe has a great deal of confidence in the study itself but not necessarily in its predictions as they related specifically to me. \u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>In the end I didn’t get my son the 23andMe test. I wish they offered some way to just look at some of the data and not all of it at once. Then I might have given this as a gift to my son and maybe even my daughter.\u003c/p>\n\n","blocks":[],"excerpt":"When 23andMe offered their DNA test for just $99, I started to think about giving it for Christmas presents.","status":"publish","parent":0,"modified":1360964710,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":28,"wordCount":1571},"headData":{"title":"Should I or Shouldn't I? Wrestling with Giving Genetic Tests as Gifts | KQED","description":"When 23andMe offered their DNA test for just $99, I started to think about giving it for Christmas presents.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"48104 http://science.kqed.org/quest/?p=48104","disqusUrl":"https://ww2.kqed.org/quest/2012/12/31/should-i-or-shouldnt-i-wrestling-with-giving-genetic-tests-as-gifts/","disqusTitle":"Should I or Shouldn't I? Wrestling with Giving Genetic Tests as Gifts","path":"/quest/48104/should-i-or-shouldnt-i-wrestling-with-giving-genetic-tests-as-gifts","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cfigure id=\"attachment_48105\" class=\"wp-caption aligncenter\" style=\"max-width: 640px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/12/31/should-i-or-shouldnt-i-wrestling-with-giving-genetic-tests-as-gifts/gift/\" rel=\"attachment wp-att-48105\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/12/Gift.jpg\" alt=\"\" title=\"Gift\" width=\"640\" height=\"369\" class=\"size-full wp-image-48105\" srcset=\"https://ww2.kqed.org/app/uploads/sites/39/2012/12/Gift.jpg 640w, https://ww2.kqed.org/app/uploads/sites/39/2012/12/Gift-400x231.jpg 400w\" sizes=\"(max-width: 640px) 100vw, 640px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Giving the gift of a genetic test can be a tricky business.\u003c/figcaption>\u003c/figure>\n\u003cp>When \u003ca href=\"https://www.23andme.com/\">23andMe\u003c/a> offered their DNA test for just $99, I started to think about giving it for Christmas presents. It was an easy decision to send one to my dad (although I’ll be curious to see if he’ll do it). What was much trickier was deciding whether to give one to my 15 year old son.\u003c/p>\n\u003cp>There are a number of reasons I wanted to give away this test to my relatives. The first is that I want to see how the DNA got passed down from my dad to me. And how it got passed from me to my son.\u003c/p>\n\u003cp>You might recall that we all have 23 pairs of chromosomes. We get one of each pair from our moms and one from our dads.\u003c/p>\n\u003cp>When we pass this DNA down to our kids, the DNA in each pair goes through a process called \u003ca href=\"http://genetics.thetech.org/ask/ask435\">recombination\u003c/a>. This is where DNA is swapped between the two chromosomes in a pair. The end result is that the chromosome 1 that I got from my dad is a mix of his two chromosome 1’s. The same is true for the chromosome 2 that I got all the way through chromosome 22. (The Y I got \u003ca href=\"http://genetics.thetech.org/ask/ask450\">passed pretty much unchanged\u003c/a>.) \u003c/p>\n\u003cp>It would be so cool to see this in action with my own DNA. Seeing a concrete example of something that has largely been theoretical up to this point somehow makes it more real. Especially with my own DNA.\u003c/p>\n\u003cfigure id=\"attachment_48110\" class=\"wp-caption alignright\" style=\"max-width: 250px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/12/31/should-i-or-shouldnt-i-wrestling-with-giving-genetic-tests-as-gifts/africandna2/\" rel=\"attachment wp-att-48110\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/12/AfricanDNA2.jpg\" alt=\"\" title=\"AfricanDNA2\" width=\"250\" height=\"313\" class=\"size-full wp-image-48110\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Look ma, I'm a little bit African! The pink at the end of one of my chromosome 11's indicates an African ancestry.\u003c/figcaption>\u003c/figure>\n\u003cp>At least this was the case when I got the whole family tested for the gene responsible for most cases of red hair, MC1R. It was so satisfying to see that my wife and I were \u003ca href=\"http://genetics.thetech.org/ask/ask44\">carriers for red hair\u003c/a>, that we each passed a red version of MC1R to our red haired son, that our older son got one copy and so was a carrier like us and that our daughter didn’t get a red MC1R gene. Even though I knew my wife and I were carriers and out red haired son had two red copies, it seemed more real once I saw the genetic results.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>The test can also tell us something about our ancestry. For example, it was cool to see that the tip of one of my chromosome 11’s actually comes from an African ancestor. I am 0.1% African. How cool is that?\u003c/p>\n\u003cp>Getting my dad tested would tell me if I got that from him. Undoubtedly I did as his family is from Arkansas and my mother’s is from Berlin, Germany but still it would be nice to confirm. My dad’s DNA could also tell us whether an old family legend about us being related to the outlaw Sam Starr is true.\u003c/p>\n\u003cp>See Sam Starr was half Native American which would mean we would have some Native American DNA too. As I talked about in a couple of previous blogs \u003ca href=\"http://ww2.kqed.org/quest/2009/09/14/genetic-tests-when-no-means-maybe-part-1/\">here \u003c/a>and \u003ca href=\"http://ww2.kqed.org/quest/2009/09/28/genetic-tests-when-no-means-maybe-part-2/\">here\u003c/a>, I couldn’t see Native American in my own DNA. One reason for this might be that I am one generation too far for the test to be able to see that DNA in mine. Maybe since my dad is one generation closer, we could see the Native American DNA in his.\u003c/p>\n\u003cp>OK, that was the fun stuff. Now on to why I might be hesitant to get my son tested. It has to do with what our DNA can and can’t tell us about our future health risks. And how these findings are packaged.\u003c/p>\n\u003cp>One of the things you can quickly learn is whether you are a carrier for some deadly genetic disease like cystic fibrosis. They don’t test for every possible variant so a negative result may give a false sense of security. Still, it would be good to know about the common ones, right? I guess maybe…\u003c/p>\n\u003cp>This kind of knowledge is important for my son to know once he’s married but does he need to know about his genetic burden now? Is he ready for it?\u003c/p>\n\u003cfigure id=\"attachment_48121\" class=\"wp-caption alignright\" style=\"max-width: 182px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/12/31/should-i-or-shouldnt-i-wrestling-with-giving-genetic-tests-as-gifts/alzrisk/\" rel=\"attachment wp-att-48121\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/12/AlzRisk.jpg\" alt=\"\" title=\"AlzRisk\" width=\"182\" height=\"312\" class=\"size-full wp-image-48121\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Good news for me and my kids. I am at a lower risk for Alzheimer's and I will for sure pass at least some of that lowered risk to my kids. \u003c/figcaption>\u003c/figure>\n\u003cp>And what about straight up genetic diseases? I found out I am a carrier for something called hemochromatosis. If my wife is one too then my son has a chance of getting the disease although even if he got the \"bad\" versions from my wife and me he still only has a chance at the disease. (Hemochromatosis is incompletely penetrant.) \u003c/p>\n\u003cp>At least with this one there is an easy remedy if you end up with it. You just have to give blood often and you are OK. But what about diseases you can’t do anything about?\u003c/p>\n\u003cp>Imagine he finds he has two copies of the APOE4 version of the APOE gene. These people are much more likely to end up with Alzheimer’s later in life. Should a 15 year old be subjected to that worry for the rest of his life?\u003c/p>\n\u003cp>Now that one is only theoretical. Because \u003ca href=\"http://ww2.kqed.org/quest/2011/04/25/better-left-unknown/\">I have two copies of the “good” version\u003c/a> of APOE, APOE2, I know at worst he’d have a good and a bad version (APOE3 is the neutral version). Of course then my wife would know she probably carries at least one APOE4 and now she can start to worry. And maybe feel bad that she passed it on to her son…\u003c/p>\n\u003cp>The list of issues like this goes on and on. I haven’t even dealt with things like DNA differences that led to a 1.5 fold increase in prostate cancer or macular degeneration or who knows what else. Is he ready to get that kind of information and, more importantly, to understand the limitations of the information? \u003c/p>\n\u003cp>For example, just because he has a marker that more people who ended up with prostate cancer had, that doesn’t mean that the marker means the same thing in him. His genetics are his own and everyone will have a different risk for these sorts of multi-gene traits. And even if he is twice as likely to get brain cancer, does he know what those numbers mean? Or will his lack of understanding make him depressed because he thinks he will most likely end up with brain cancer? Yikes.\u003c/p>\n\u003cp>To test out how ready he was, I decided to share some of my results with him while my eleven year old daughter listened in. First I showed them the ancestry and traits like lactose intolerance. They thought these were very cool (and they were right). I also showed them how my DNA showed that my blood type probably was A+ and that I was a carrier for O and Rh negative blood type. We got into a nice discussion about what that means for them. Neat.\u003c/p>\n\u003cp>Then I moved onto the disease section. This is where things started to get ugly.\u003c/p>\n\u003cfigure id=\"attachment_48126\" class=\"wp-caption alignright\" style=\"max-width: 200px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/12/31/should-i-or-shouldnt-i-wrestling-with-giving-genetic-tests-as-gifts/decriskconf/\" rel=\"attachment wp-att-48126\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/12/DecRiskConf.jpg\" alt=\"\" title=\"DecRiskConf\" width=\"200\" height=\"225\" class=\"size-full wp-image-48126\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">What does it all mean?\u003c/figcaption>\u003c/figure>\n\u003cp>I learned pretty quickly that my daughter did not have the right personality for these sorts of tests (at least not yet). She focused in on the various diseases, learning all the ways I could one day die and started to get very worried. I tried to use my understanding of genetics to tell her that these are just risks, they aren’t a for sure thing but I was getting nowhere. She tends to worry a lot and this simply gave her more to worry about. Hopefully she will forget about this and move on.\u003c/p>\n\u003cp>My son was a different matter. He was very interested in things without worrying too much but he was taking some of the health things too literally. For example, my results showed a significantly increased risk for late age macular degeneration (a nasty eye problem). Scary.\u003c/p>\n\u003cp>Except that again, this is the average risk of lots of people with varying genes who share this marker. My own risk is my own and is dependent on lots of other genes (and the environment!) besides this one. So basically I take these results with a grain of salt, waiting for more data to see if it is meaningful or not. \u003c/p>\n\u003cp>But he homed in on these results and decided they were set in stone. He saw a bunch of yellow stars that indicated that 23andMe was very confident in this result and so assumed that that meant they were very confident that I had the chance for this disease they quoted. \u003c/p>\n\u003cp>I explained that this is not the case. 23andMe has a great deal of confidence in the study itself but not necessarily in its predictions as they related specifically to me. \u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"floatright"},"numeric":["floatright"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>In the end I didn’t get my son the 23andMe test. I wish they offered some way to just look at some of the data and not all of it at once. Then I might have given this as a gift to my son and maybe even my daughter.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/quest/48104/should-i-or-shouldnt-i-wrestling-with-giving-genetic-tests-as-gifts","authors":["6177"],"categories":["quest_4","quest_12"],"tags":["quest_159","quest_11660","quest_3545","quest_11183","quest_11658","quest_13202","quest_3319","quest_11659"],"featImg":"quest_48105","label":"quest"},"quest_43103":{"type":"posts","id":"quest_43103","meta":{"index":"posts_1591205157","site":"quest","id":"43103","score":null,"sort":[1347289255000]},"guestAuthors":[],"slug":"the-results-are-in-for-my-genetics-qui","title":"The Results Are In For My Genetics Quiz ","publishDate":1347289255,"format":"aside","headTitle":"QUEST | KQED Science","labelTerm":{"site":"quest"},"content":"\u003cfigure id=\"attachment_43106\" class=\"wp-caption aligncenter\" style=\"max-width: 640px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/09/10/the-results-are-in-for-my-genetics-qui/quiz1image/\" rel=\"attachment wp-att-43106\">\u003cimg class=\"size-full wp-image-43106\" title=\"Quiz1Image\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/08/Quiz1Image.jpg\" alt=\"\" width=\"640\" height=\"369\" srcset=\"https://ww2.kqed.org/app/uploads/sites/39/2012/08/Quiz1Image.jpg 640w, https://ww2.kqed.org/app/uploads/sites/39/2012/08/Quiz1Image-400x231.jpg 400w\" sizes=\"(max-width: 640px) 100vw, 640px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Lots of right answers from clever QUEST respondents!\u003c/figcaption>\u003c/figure>\n\u003cp>In my \u003ca href=\"http://ww2.kqed.org/quest/2012/08/20/arm-yourselves-for-the-upcoming-genetics-revolution/\" target=\"_blank\">last blog entry\u003c/a>, I wrote a quiz that tested some basic knowledge about genetics that experts have found the public struggles with. What I found from the responses I received is that the QUEST public doesn’t struggle with them or, more likely, people only answer quizzes like this if they are pretty confident in the first place. The ten respondents did very well indeed!\u003c/p>\n\u003cp>I also learned that I need to work on my question writing skills. In my efforts to be brief and to the point, I ended up writing the occasional question that had more than one correct answer. Of course once I realized that I scored either of the correct answers as correct.\u003c/p>\n\u003cp>What I’ll do below is go over each question in a bit more detail. I’ll talk about why I asked it and what the answer is.\u003c/p>\n\u003cp>\u003cem>1) Should you necessarily be scared if you find out you are 10 times more likely to get a rare cancer?\u003c/em>\u003c/p>\n\u003cp>The answer to this one is no, you should not be scared. Everyone got this one right.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>If 1 in a million people get a certain cancer, the increase to 1 in 100,000 is pretty minimal. It is equivalent to \u003ca href=\"http://www.funny2.com/odds.htm\">the difference between\u003c/a> getting struck by lightning and dating a supermodel. Neither is at all likely!\u003c/p>\n\u003cp>The reason I included this question is that \u003ca href=\"http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945403/\">one of the studies\u003c/a> suggested that this is a pretty common problem for people getting genetic counseling. They struggle with the idea of absolute vs. relative risk. In other words, the difference between how much more likely I am to get a disease compared to you versus how likely I am to get a disease period.\u003c/p>\n\u003cfigure id=\"attachment_43125\" class=\"wp-caption alignright\" style=\"max-width: 150px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/09/10/the-results-are-in-for-my-genetics-qui/motherdaughter/\" rel=\"attachment wp-att-43125\">\u003cimg class=\"size-full wp-image-43125\" title=\"MotherDaughter\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/08/MotherDaughter.jpg\" alt=\"\" width=\"150\" height=\"141\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Just because you look like mom that doesn't mean you'll necessarily end up with her family's diseases.\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cem>2) If you look like your mom, are you more likely to get the diseases that run in her family or your dad’s family?\u003c/em>\u003c/p>\n\u003cp>The answer to this one is no as well. Nine out of ten respondents got this one right.\u003c/p>\n\u003cp>The few genes associated with looks have very little to do with disease risk. Just because you and your mom have blue eyes, this has nothing to do with whether you have your mom’s increased risk for type 2 diabetes. There are different genes associated with each and they are independent of one another.\u003c/p>\n\u003cp>Here is another example. Let’s say Huntington’s disease runs in your dad’s family and your dad has the version of the huntingtin gene that will lead to him getting the disease. Your chances of getting the disease are 50% whether or not you have mom’s blue eyes and blonde hair or dad’s brown eyes and hair. The disease and the traits are caused by different genes...they do not come as a package deal.\u003c/p>\n\u003cp>One of the exceptions would be red hair and fair skin. These traits, which are caused by certain versions of the MC1R gene, do increase a person’s risk for skin cancer.\u003c/p>\n\u003cp>I included this question because of the multitude of similar questions about this that I have received at \u003ca href=\"http://genetics.thetech.org/ask-a-geneticist\">Ask a Geneticist\u003c/a> and because it is mentioned in the \u003ca href=\"http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945403/\">genetics counseling study\u003c/a>.\u003c/p>\n\u003cp>\u003cem>3) If you have the recessive disease sickle cell anemia, should your kids be tested to see if they are carriers?\u003c/em>\u003c/p>\n\u003cp>In the way I was thinking about the question, the answer would be no. Only one out of ten people got this right but I suspect that may have to do with how I wrote the question.\u003c/p>\n\u003cp>What I was trying to get at is if you have a recessive disease, then all of your kids will almost certainly be carriers of that disease. So there isn’t really any need for genetic testing.\u003c/p>\n\u003cp>Remember, we have two copies of each of our genes and for a recessive trait to be seen, both copies have to be the recessive version. Also remember that people pass one of their two copies of each gene to their child.\u003c/p>\n\u003cp>What this means is people with sickle cell anemia have to pass a version of the hemoglobin gene that can lead to sickle cell anemia down to each of their kids. All their kids will be carriers.\u003c/p>\n\u003cp>So a genetic test probably isn’t necessary for the kids because they are undoubtedly carriers. Now that doesn’t mean the other partner shouldn’t be tested. He or she definitely should be tested to determine his or her carrier status. This will affect their chances for having a child with sickle cell anemia.\u003c/p>\n\u003cp>I included this question because both the \u003ca href=\"http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945403/\">genetic counseling\u003c/a> and the \u003ca href=\"http://www.ncbi.nlm.nih.gov/pubmed/19039252\">Australian\u003c/a> study showed that the idea of dominant and recessive traits was a confusing one. This also bears out in our list of \u003ca href=\"http://genetics.thetech.org/ask-a-geneticist\">Ask a Geneticist\u003c/a> questions.\u003c/p>\n\u003cfigure id=\"attachment_43115\" class=\"wp-caption alignright\" style=\"max-width: 250px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/09/10/the-results-are-in-for-my-genetics-qui/cuteredheadedbaby/\" rel=\"attachment wp-att-43115\">\u003cimg class=\"size-full wp-image-43115\" title=\"CuteRedheadedBaby\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/08/CuteRedheadedBaby.gif\" alt=\"\" width=\"250\" height=\"188\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Sometimes to look like one parent, you need genes from both! Red hair is one of these.\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cem>4) If you look like your dad, did you get more of his DNA?\u003c/em>\u003c/p>\n\u003cp>The answer here is a definite no. People almost always get half their DNA from their mom and half from their dad no matter who they look like. (Click \u003ca href=\"http://genetics.thetech.org/ask/ask289\">here\u003c/a>, \u003ca href=\"http://genetics.thetech.org/ask-a-geneticist/paternal-grandmothers-dna\">here \u003c/a>and \u003ca href=\"http://genetics.thetech.org/ask/ask435\">here \u003c/a>for some exceptions to this rule.) Eight out of ten people got this question right.\u003c/p>\n\u003cp>Again we have the issue where what we look like comes from only a few genes. Looking like your dad might mean you happened to get 20 or 50 of his genes related to physical appearance. This is out of the 25,000 or so genes we all have.\u003c/p>\n\u003cp>In fact, there are even some traits where you look like one parent because both parents contributed the right DNA. Let’s say you and your dad are a redhead. It is very unlikely you have red hair only because of him because red hair is a recessive trait and usually has to come from both sides of the family. In other words, mom had to pass you a red hair version of MC1R so you could look like your dad!\u003c/p>\n\u003cp>\u003cem>5) If you flip a coin and get heads ten times in a row, what are the chances that the next flip will be a head?\u003c/em>\u003c/p>\n\u003cp>The answer is 50%. Each coin flip is independent so what came before cannot affect the next flip. The coin doesn’t remember on which side it landed before. Nine out of ten got this one right.\u003c/p>\n\u003cp>It is a very common misconception that if you flip a coin and get ten heads in a row, the next flip is more likely to be a tail (it is due!). Heck, my dad plays the craps tables in Las Vegas by looking for tables where a seven hasn’t come up in a while and places his bets at that table. This is no way to win.\u003c/p>\n\u003cp>In genetics this mostly becomes an issue in predicting a child’s traits based on the children that came before. If two parents have four girls, they might think that a boy is more likely next time around. And if both parents are carriers for cystic fibrosis (CF), they might feel that if they’ve already had a child with CF, the risk is decreased for the next child. After all, that Punnett square showed that 1 in 4 of their kids would have CF, right? Well, no.\u003c/p>\n\u003cp>The Punnett square was used to calculate the risk that each child has for getting CF. If your first child has CF, your second still has a 1 in 4 chance for getting CF. Just because your first got it, that does not affect your second child’s chances.\u003c/p>\n\u003cfigure id=\"attachment_43120\" class=\"wp-caption alignright\" style=\"max-width: 100px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/09/10/the-results-are-in-for-my-genetics-qui/dna/\" rel=\"attachment wp-att-43120\">\u003cimg class=\"size-full wp-image-43120\" title=\"DNA\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/08/DNA.jpg\" alt=\"\" width=\"100\" height=\"250\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Cells look different because they use different parts of the same DNA.\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cem>6) True or false: Each cell in your body has the same DNA.\u003c/em>\u003c/p>\n\u003cp>OK, this is the question I messed up on big time. By trying to keep it short and sweet, I didn’t ask the right question. What I should have asked was:\u003c/p>\n\u003cp>\u003cem>A muscle and a brain cell have the same DNA. True or False\u003c/em>\u003c/p>\n\u003cp>The answer to that question is “True” and we could have a nice discussion about how most of the cells in our body have the exact same DNA even though they look different. And then I’d go on to talk about how the differences come from the fact that each cell uses a different subset of genes. Sort of like following a single recipe in a cookbook to make cookies instead of following every recipe.\u003c/p>\n\u003cp>But alas, I asked the wrong question and most of the respondents correctly noted the exceptions to the “every cell has the same DNA” idea. They noted that sperm and eggs have half the usual amount of DNA. And that because of mutations, various cells in our bodies have small differences from one another. They also mentioned that we are actually composed of our cells plus the trillions of bacteria that we all carry. (No one mentioned mature red blood cells which have no DNA.)\u003c/p>\n\u003cp>I hope you enjoyed the quiz and that you’ll enjoy the book, \u003ca href=\"http://genetics.thetech.org/book-titles\">When Will Broccoli Taste Like Chocolate?\u003c/a>. I am happy to do more quizzes like this in the future if people are interested. Any suggestions on genetics topics?\u003c/p>\n\u003cp>\u003cem>More scary news:\u003c/em>\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>\u003ca href=\"http://ww2.kqed.org/quest/2012/09/10/the-results-are-in-for-my-genetics-qui/yikes/\" rel=\"attachment wp-att-43256\">\u003cimg class=\"aligncenter size-full wp-image-43256\" title=\"Yikes\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/09/Yikes.jpg\" alt=\"\" width=\"434\" height=\"552\" srcset=\"https://ww2.kqed.org/app/uploads/sites/39/2012/09/Yikes.jpg 434w, https://ww2.kqed.org/app/uploads/sites/39/2012/09/Yikes-400x509.jpg 400w\" sizes=\"(max-width: 434px) 100vw, 434px\">\u003c/a> Click \u003ca href=\"http://www.facebook.com/photo.php?fbid=465671563453860&set=a.456449604376056.98921.367116489976035&type=1&theater\">here \u003c/a>for source.\u003c/p>\n\n","blocks":[],"excerpt":null,"status":"publish","parent":0,"modified":1346358464,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":39,"wordCount":1612},"headData":{"title":"The Results Are In For My Genetics Quiz | KQED","description":"In my last blog entry, I wrote a quiz that tested some basic knowledge about genetics that experts have found the public struggles with. What I found from the responses I received is that the QUEST public doesn’t struggle with them or, more likely, people only answer quizzes like this if they are pretty confident","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"43103 http://science.kqed.org/quest/?p=43103","disqusUrl":"https://ww2.kqed.org/quest/2012/09/10/the-results-are-in-for-my-genetics-qui/","disqusTitle":"The Results Are In For My Genetics Quiz ","path":"/quest/43103/the-results-are-in-for-my-genetics-qui","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cfigure id=\"attachment_43106\" class=\"wp-caption aligncenter\" style=\"max-width: 640px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/09/10/the-results-are-in-for-my-genetics-qui/quiz1image/\" rel=\"attachment wp-att-43106\">\u003cimg class=\"size-full wp-image-43106\" title=\"Quiz1Image\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/08/Quiz1Image.jpg\" alt=\"\" width=\"640\" height=\"369\" srcset=\"https://ww2.kqed.org/app/uploads/sites/39/2012/08/Quiz1Image.jpg 640w, https://ww2.kqed.org/app/uploads/sites/39/2012/08/Quiz1Image-400x231.jpg 400w\" sizes=\"(max-width: 640px) 100vw, 640px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Lots of right answers from clever QUEST respondents!\u003c/figcaption>\u003c/figure>\n\u003cp>In my \u003ca href=\"http://ww2.kqed.org/quest/2012/08/20/arm-yourselves-for-the-upcoming-genetics-revolution/\" target=\"_blank\">last blog entry\u003c/a>, I wrote a quiz that tested some basic knowledge about genetics that experts have found the public struggles with. What I found from the responses I received is that the QUEST public doesn’t struggle with them or, more likely, people only answer quizzes like this if they are pretty confident in the first place. The ten respondents did very well indeed!\u003c/p>\n\u003cp>I also learned that I need to work on my question writing skills. In my efforts to be brief and to the point, I ended up writing the occasional question that had more than one correct answer. Of course once I realized that I scored either of the correct answers as correct.\u003c/p>\n\u003cp>What I’ll do below is go over each question in a bit more detail. I’ll talk about why I asked it and what the answer is.\u003c/p>\n\u003cp>\u003cem>1) Should you necessarily be scared if you find out you are 10 times more likely to get a rare cancer?\u003c/em>\u003c/p>\n\u003cp>The answer to this one is no, you should not be scared. Everyone got this one right.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>If 1 in a million people get a certain cancer, the increase to 1 in 100,000 is pretty minimal. It is equivalent to \u003ca href=\"http://www.funny2.com/odds.htm\">the difference between\u003c/a> getting struck by lightning and dating a supermodel. Neither is at all likely!\u003c/p>\n\u003cp>The reason I included this question is that \u003ca href=\"http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945403/\">one of the studies\u003c/a> suggested that this is a pretty common problem for people getting genetic counseling. They struggle with the idea of absolute vs. relative risk. In other words, the difference between how much more likely I am to get a disease compared to you versus how likely I am to get a disease period.\u003c/p>\n\u003cfigure id=\"attachment_43125\" class=\"wp-caption alignright\" style=\"max-width: 150px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/09/10/the-results-are-in-for-my-genetics-qui/motherdaughter/\" rel=\"attachment wp-att-43125\">\u003cimg class=\"size-full wp-image-43125\" title=\"MotherDaughter\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/08/MotherDaughter.jpg\" alt=\"\" width=\"150\" height=\"141\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Just because you look like mom that doesn't mean you'll necessarily end up with her family's diseases.\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cem>2) If you look like your mom, are you more likely to get the diseases that run in her family or your dad’s family?\u003c/em>\u003c/p>\n\u003cp>The answer to this one is no as well. Nine out of ten respondents got this one right.\u003c/p>\n\u003cp>The few genes associated with looks have very little to do with disease risk. Just because you and your mom have blue eyes, this has nothing to do with whether you have your mom’s increased risk for type 2 diabetes. There are different genes associated with each and they are independent of one another.\u003c/p>\n\u003cp>Here is another example. Let’s say Huntington’s disease runs in your dad’s family and your dad has the version of the huntingtin gene that will lead to him getting the disease. Your chances of getting the disease are 50% whether or not you have mom’s blue eyes and blonde hair or dad’s brown eyes and hair. The disease and the traits are caused by different genes...they do not come as a package deal.\u003c/p>\n\u003cp>One of the exceptions would be red hair and fair skin. These traits, which are caused by certain versions of the MC1R gene, do increase a person’s risk for skin cancer.\u003c/p>\n\u003cp>I included this question because of the multitude of similar questions about this that I have received at \u003ca href=\"http://genetics.thetech.org/ask-a-geneticist\">Ask a Geneticist\u003c/a> and because it is mentioned in the \u003ca href=\"http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945403/\">genetics counseling study\u003c/a>.\u003c/p>\n\u003cp>\u003cem>3) If you have the recessive disease sickle cell anemia, should your kids be tested to see if they are carriers?\u003c/em>\u003c/p>\n\u003cp>In the way I was thinking about the question, the answer would be no. Only one out of ten people got this right but I suspect that may have to do with how I wrote the question.\u003c/p>\n\u003cp>What I was trying to get at is if you have a recessive disease, then all of your kids will almost certainly be carriers of that disease. So there isn’t really any need for genetic testing.\u003c/p>\n\u003cp>Remember, we have two copies of each of our genes and for a recessive trait to be seen, both copies have to be the recessive version. Also remember that people pass one of their two copies of each gene to their child.\u003c/p>\n\u003cp>What this means is people with sickle cell anemia have to pass a version of the hemoglobin gene that can lead to sickle cell anemia down to each of their kids. All their kids will be carriers.\u003c/p>\n\u003cp>So a genetic test probably isn’t necessary for the kids because they are undoubtedly carriers. Now that doesn’t mean the other partner shouldn’t be tested. He or she definitely should be tested to determine his or her carrier status. This will affect their chances for having a child with sickle cell anemia.\u003c/p>\n\u003cp>I included this question because both the \u003ca href=\"http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945403/\">genetic counseling\u003c/a> and the \u003ca href=\"http://www.ncbi.nlm.nih.gov/pubmed/19039252\">Australian\u003c/a> study showed that the idea of dominant and recessive traits was a confusing one. This also bears out in our list of \u003ca href=\"http://genetics.thetech.org/ask-a-geneticist\">Ask a Geneticist\u003c/a> questions.\u003c/p>\n\u003cfigure id=\"attachment_43115\" class=\"wp-caption alignright\" style=\"max-width: 250px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/09/10/the-results-are-in-for-my-genetics-qui/cuteredheadedbaby/\" rel=\"attachment wp-att-43115\">\u003cimg class=\"size-full wp-image-43115\" title=\"CuteRedheadedBaby\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/08/CuteRedheadedBaby.gif\" alt=\"\" width=\"250\" height=\"188\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Sometimes to look like one parent, you need genes from both! Red hair is one of these.\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cem>4) If you look like your dad, did you get more of his DNA?\u003c/em>\u003c/p>\n\u003cp>The answer here is a definite no. People almost always get half their DNA from their mom and half from their dad no matter who they look like. (Click \u003ca href=\"http://genetics.thetech.org/ask/ask289\">here\u003c/a>, \u003ca href=\"http://genetics.thetech.org/ask-a-geneticist/paternal-grandmothers-dna\">here \u003c/a>and \u003ca href=\"http://genetics.thetech.org/ask/ask435\">here \u003c/a>for some exceptions to this rule.) Eight out of ten people got this question right.\u003c/p>\n\u003cp>Again we have the issue where what we look like comes from only a few genes. Looking like your dad might mean you happened to get 20 or 50 of his genes related to physical appearance. This is out of the 25,000 or so genes we all have.\u003c/p>\n\u003cp>In fact, there are even some traits where you look like one parent because both parents contributed the right DNA. Let’s say you and your dad are a redhead. It is very unlikely you have red hair only because of him because red hair is a recessive trait and usually has to come from both sides of the family. In other words, mom had to pass you a red hair version of MC1R so you could look like your dad!\u003c/p>\n\u003cp>\u003cem>5) If you flip a coin and get heads ten times in a row, what are the chances that the next flip will be a head?\u003c/em>\u003c/p>\n\u003cp>The answer is 50%. Each coin flip is independent so what came before cannot affect the next flip. The coin doesn’t remember on which side it landed before. Nine out of ten got this one right.\u003c/p>\n\u003cp>It is a very common misconception that if you flip a coin and get ten heads in a row, the next flip is more likely to be a tail (it is due!). Heck, my dad plays the craps tables in Las Vegas by looking for tables where a seven hasn’t come up in a while and places his bets at that table. This is no way to win.\u003c/p>\n\u003cp>In genetics this mostly becomes an issue in predicting a child’s traits based on the children that came before. If two parents have four girls, they might think that a boy is more likely next time around. And if both parents are carriers for cystic fibrosis (CF), they might feel that if they’ve already had a child with CF, the risk is decreased for the next child. After all, that Punnett square showed that 1 in 4 of their kids would have CF, right? Well, no.\u003c/p>\n\u003cp>The Punnett square was used to calculate the risk that each child has for getting CF. If your first child has CF, your second still has a 1 in 4 chance for getting CF. Just because your first got it, that does not affect your second child’s chances.\u003c/p>\n\u003cfigure id=\"attachment_43120\" class=\"wp-caption alignright\" style=\"max-width: 100px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/09/10/the-results-are-in-for-my-genetics-qui/dna/\" rel=\"attachment wp-att-43120\">\u003cimg class=\"size-full wp-image-43120\" title=\"DNA\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/08/DNA.jpg\" alt=\"\" width=\"100\" height=\"250\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Cells look different because they use different parts of the same DNA.\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cem>6) True or false: Each cell in your body has the same DNA.\u003c/em>\u003c/p>\n\u003cp>OK, this is the question I messed up on big time. By trying to keep it short and sweet, I didn’t ask the right question. What I should have asked was:\u003c/p>\n\u003cp>\u003cem>A muscle and a brain cell have the same DNA. True or False\u003c/em>\u003c/p>\n\u003cp>The answer to that question is “True” and we could have a nice discussion about how most of the cells in our body have the exact same DNA even though they look different. And then I’d go on to talk about how the differences come from the fact that each cell uses a different subset of genes. Sort of like following a single recipe in a cookbook to make cookies instead of following every recipe.\u003c/p>\n\u003cp>But alas, I asked the wrong question and most of the respondents correctly noted the exceptions to the “every cell has the same DNA” idea. They noted that sperm and eggs have half the usual amount of DNA. And that because of mutations, various cells in our bodies have small differences from one another. They also mentioned that we are actually composed of our cells plus the trillions of bacteria that we all carry. (No one mentioned mature red blood cells which have no DNA.)\u003c/p>\n\u003cp>I hope you enjoyed the quiz and that you’ll enjoy the book, \u003ca href=\"http://genetics.thetech.org/book-titles\">When Will Broccoli Taste Like Chocolate?\u003c/a>. I am happy to do more quizzes like this in the future if people are interested. Any suggestions on genetics topics?\u003c/p>\n\u003cp>\u003cem>More scary news:\u003c/em>\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"floatright"},"numeric":["floatright"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>\u003ca href=\"http://ww2.kqed.org/quest/2012/09/10/the-results-are-in-for-my-genetics-qui/yikes/\" rel=\"attachment wp-att-43256\">\u003cimg class=\"aligncenter size-full wp-image-43256\" title=\"Yikes\" src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/09/Yikes.jpg\" alt=\"\" width=\"434\" height=\"552\" srcset=\"https://ww2.kqed.org/app/uploads/sites/39/2012/09/Yikes.jpg 434w, https://ww2.kqed.org/app/uploads/sites/39/2012/09/Yikes-400x509.jpg 400w\" sizes=\"(max-width: 434px) 100vw, 434px\">\u003c/a> Click \u003ca href=\"http://www.facebook.com/photo.php?fbid=465671563453860&set=a.456449604376056.98921.367116489976035&type=1&theater\">here \u003c/a>for source.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/quest/43103/the-results-are-in-for-my-genetics-qui","authors":["6177"],"categories":["quest_4","quest_12"],"tags":["quest_11395","quest_3549","quest_11183","quest_1197","quest_11397","quest_13202","quest_3733","quest_11396","quest_3319"],"featImg":"quest_43106","label":"quest"},"quest_39182":{"type":"posts","id":"quest_39182","meta":{"index":"posts_1591205157","site":"quest","id":"39182","score":null,"sort":[1339426811000]},"guestAuthors":[],"slug":"tackling-the-cause-of-cystic-fibrosis-one-mutation-at-a-time","title":"Tackling the Cause of Cystic Fibrosis One Mutation at a Time","publishDate":1339426811,"format":"standard","headTitle":"QUEST | KQED Science","labelTerm":{"site":"quest"},"content":"\u003cfigure id=\"attachment_39185\" class=\"wp-caption aligncenter\" style=\"max-width: 640px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/06/11/tackling-the-cause-of-cystic-fibrosis-one-mutation-at-a-time/ivacaftor/\" rel=\"attachment wp-att-39185\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/06/Ivacaftor.jpg\" alt=\"\" title=\"Ivacaftor\" width=\"640\" height=\"365\" class=\"size-full wp-image-39185\" srcset=\"https://ww2.kqed.org/app/uploads/sites/39/2012/06/Ivacaftor.jpg 640w, https://ww2.kqed.org/app/uploads/sites/39/2012/06/Ivacaftor-400x228.jpg 400w\" sizes=\"(max-width: 640px) 100vw, 640px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">This little molecule is changing how some cystic fibrosis patients are treated. And how new drugs may be made in the future.\u003c/figcaption>\u003c/figure>\n\u003cp>There was big news in the cystic fibrosis (CF) field recently: a new CF drug called ivacaftor (or VX-770 or Kalydeco) has been approved that does more than target the symptoms of CF. It actually works to get the broken gene working again. \u003c/p>\n\u003cp>The good news is that this is the first treatment that has the potential to cure this genetic disease (as long as the patients keep taking their medicine). The bad news is that it is only approved for around 4-5% of people with CF. This last bit of news may get a lot better in the near future but ivacaftor will never help every CF sufferer.\u003c/p>\n\u003cp>The reason for this has to do with the fact that there is more than one way to break the main gene involved in CF -- the CFTR gene -- and that there is more than one class of CFTR break.\u003c/p>\n\u003cp>The CFTR gene has the instructions for making the CFTR protein. This protein needs to get made and sent to the membrane so it can do its job of shuttling chloride ions back and forth. If you have a slight difference* in the gene that disrupts any step, then you can end up with CF. (Although not every slight difference leads to CF -- not by a long shot!)\u003c/p>\n\u003cfigure id=\"attachment_39190\" class=\"wp-caption alignright\" style=\"max-width: 250px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/06/11/tackling-the-cause-of-cystic-fibrosis-one-mutation-at-a-time/cftr/\" rel=\"attachment wp-att-39190\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/06/CFTR.jpg\" alt=\"\" title=\"CFTR\" width=\"250\" height=\"230\" class=\"size-full wp-image-39190\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">There are many ways to keep this protein from working. Each way may need a different medicine.\u003c/figcaption>\u003c/figure>\n\u003cp>So some CF-causing differences in the CFTR gene will keep the protein from being made while others will keep it from making it to the membrane. Still others will keep the channel from opening wide enough to let the chloride ions pass through. Ivacaftor helps people in this last category.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>These folks have a mutation in their gene called G551D. As you might recall, genes are written in a simple language that just has four letters—A, G, C, and T. These letters are all grouped together in a gene to form three letter words. \u003c/p>\n\u003cp>With the exception of three words that act like a period at the end of a sentence, each of these words corresponds to one of twenty different amino acids. So a gene is really just the instructions for stringing together certain amino acids in a certain order.\u003c/p>\n\u003cp>The CFTR protein is made up of 1470 of these three letter words. The people helped by ivacaftor have a letter change that causes the cell to read the 551st word as a D instead of a G. This is enough to cause the protein to have trouble letting the chloride ions through.\u003c/p>\n\u003cp>Ivacaftor enhances CFTR’s ability to open up. So it makes sense that it would help people with the G551D variation. But it also makes sense why it won’t help for other CF patients.\u003c/p>\n\u003cp>For example, around 10% of people with CF have what is called a nonsense mutation in their CFTR gene. What happens in these cases is that a word that normally corresponds to an amino acid is mutated so that it now codes for a period. The cell stops reading the gene too soon and so you end up with only a part of the protein. Usually these “truncated” proteins can’t do much of anything. \u003c/p>\n\u003cp>Giving one of these patients a drug that helps the full length protein open wider isn’t going to be of much help. No, you need a drug that will ignore the period and make at least some functional CFTR. And there is a drug in the pipeline called PTC-124 that just might be able to pull this off. Of course PTC-124 will be of little use for people with the G551D variant!\u003c/p>\n\u003cp>Now having said this, ivacaftor may be more than a one trick pony. In fact, it may be able to help the majority of people with CF in the near future. \u003c/p>\n\u003cfigure id=\"attachment_39195\" class=\"wp-caption alignright\" style=\"max-width: 150px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/06/11/tackling-the-cause-of-cystic-fibrosis-one-mutation-at-a-time/atcgpeople/\" rel=\"attachment wp-att-39195\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/06/atcgPeople.jpg\" alt=\"\" title=\"atcgPeople\" width=\"150\" height=\"184\" class=\"size-full wp-image-39195\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Our genetic uniqueness will make finding cures more difficult.\u003c/figcaption>\u003c/figure>\n\u003cp>Most people with CF have a certain mutation called delta508. Basically the 508th word has gone missing in their CFTR gene.\u003c/p>\n\u003cp>What happens in these cases is that most of the CFTR protein gets lost on its way to the membrane. But a tiny bit does make it to the right place and ivacaftor might be able to boost that little bit enough to help these patients. \u003c/p>\n\u003cp>Ivacaftor is currently in Phase 2 clinical trials to see if it can help patients with the delta508 variant. The results are promising so far.\u003c/p>\n\u003cp>These treatments for CF are showing how we may have to deal with genetic diseases in the future. As I talked about in my last \u003ca href=\"http://ww2.kqed.org/quest/2012/05/28/why-your-newfound-uniqueness-a-nightmare-for-your-doctor/\">blog\u003c/a>, we are all unique genetically. This means that even simple genetic diseases are going to be like CF and come in many different classes that will all have to be treated differently. It also means that new drugs may only help a relatively small number of patients.\u003c/p>\n\u003cp>This last point will require a paradigm shift in how drugs are developed too. Most big pharma companies won’t touch drugs that treat so few people. Ivacaftor is showing us the way here too.\u003c/p>\n\u003cp>The Cystic Fibrosis Foundation provided big pharma with a sizeable chunk of change to get this drug through clinical trials and to the market. The new paradigm may be that interested patient groups collaborate with big pharma to get these “boutique” drugs to market. \u003c/p>\n\u003cp>It’ll be interesting to see if this is a viable business model. But at least for now a minority of CF patients can have real hope.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\u003cem>*These DNA differences go by lots of different names: variant, SNP, mutation, mistake, etc.\u003c/em>\u003c/p>\n\n","blocks":[],"excerpt":null,"status":"publish","parent":0,"modified":1340306642,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":22,"wordCount":976},"headData":{"title":"Tackling the Cause of Cystic Fibrosis One Mutation at a Time | KQED","description":"There was big news in the cystic fibrosis (CF) field recently: a new CF drug called ivacaftor (or VX-770 or Kalydeco) has been approved that does more than target the symptoms of CF. It actually works to get the broken gene working again. The good news is that this is the first treatment that has","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"39182 http://science.kqed.org/quest/?p=39182","disqusUrl":"https://ww2.kqed.org/quest/2012/06/11/tackling-the-cause-of-cystic-fibrosis-one-mutation-at-a-time/","disqusTitle":"Tackling the Cause of Cystic Fibrosis One Mutation at a Time","path":"/quest/39182/tackling-the-cause-of-cystic-fibrosis-one-mutation-at-a-time","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cfigure id=\"attachment_39185\" class=\"wp-caption aligncenter\" style=\"max-width: 640px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/06/11/tackling-the-cause-of-cystic-fibrosis-one-mutation-at-a-time/ivacaftor/\" rel=\"attachment wp-att-39185\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/06/Ivacaftor.jpg\" alt=\"\" title=\"Ivacaftor\" width=\"640\" height=\"365\" class=\"size-full wp-image-39185\" srcset=\"https://ww2.kqed.org/app/uploads/sites/39/2012/06/Ivacaftor.jpg 640w, https://ww2.kqed.org/app/uploads/sites/39/2012/06/Ivacaftor-400x228.jpg 400w\" sizes=\"(max-width: 640px) 100vw, 640px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">This little molecule is changing how some cystic fibrosis patients are treated. And how new drugs may be made in the future.\u003c/figcaption>\u003c/figure>\n\u003cp>There was big news in the cystic fibrosis (CF) field recently: a new CF drug called ivacaftor (or VX-770 or Kalydeco) has been approved that does more than target the symptoms of CF. It actually works to get the broken gene working again. \u003c/p>\n\u003cp>The good news is that this is the first treatment that has the potential to cure this genetic disease (as long as the patients keep taking their medicine). The bad news is that it is only approved for around 4-5% of people with CF. This last bit of news may get a lot better in the near future but ivacaftor will never help every CF sufferer.\u003c/p>\n\u003cp>The reason for this has to do with the fact that there is more than one way to break the main gene involved in CF -- the CFTR gene -- and that there is more than one class of CFTR break.\u003c/p>\n\u003cp>The CFTR gene has the instructions for making the CFTR protein. This protein needs to get made and sent to the membrane so it can do its job of shuttling chloride ions back and forth. If you have a slight difference* in the gene that disrupts any step, then you can end up with CF. (Although not every slight difference leads to CF -- not by a long shot!)\u003c/p>\n\u003cfigure id=\"attachment_39190\" class=\"wp-caption alignright\" style=\"max-width: 250px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/06/11/tackling-the-cause-of-cystic-fibrosis-one-mutation-at-a-time/cftr/\" rel=\"attachment wp-att-39190\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/06/CFTR.jpg\" alt=\"\" title=\"CFTR\" width=\"250\" height=\"230\" class=\"size-full wp-image-39190\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">There are many ways to keep this protein from working. Each way may need a different medicine.\u003c/figcaption>\u003c/figure>\n\u003cp>So some CF-causing differences in the CFTR gene will keep the protein from being made while others will keep it from making it to the membrane. Still others will keep the channel from opening wide enough to let the chloride ions pass through. Ivacaftor helps people in this last category.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>These folks have a mutation in their gene called G551D. As you might recall, genes are written in a simple language that just has four letters—A, G, C, and T. These letters are all grouped together in a gene to form three letter words. \u003c/p>\n\u003cp>With the exception of three words that act like a period at the end of a sentence, each of these words corresponds to one of twenty different amino acids. So a gene is really just the instructions for stringing together certain amino acids in a certain order.\u003c/p>\n\u003cp>The CFTR protein is made up of 1470 of these three letter words. The people helped by ivacaftor have a letter change that causes the cell to read the 551st word as a D instead of a G. This is enough to cause the protein to have trouble letting the chloride ions through.\u003c/p>\n\u003cp>Ivacaftor enhances CFTR’s ability to open up. So it makes sense that it would help people with the G551D variation. But it also makes sense why it won’t help for other CF patients.\u003c/p>\n\u003cp>For example, around 10% of people with CF have what is called a nonsense mutation in their CFTR gene. What happens in these cases is that a word that normally corresponds to an amino acid is mutated so that it now codes for a period. The cell stops reading the gene too soon and so you end up with only a part of the protein. Usually these “truncated” proteins can’t do much of anything. \u003c/p>\n\u003cp>Giving one of these patients a drug that helps the full length protein open wider isn’t going to be of much help. No, you need a drug that will ignore the period and make at least some functional CFTR. And there is a drug in the pipeline called PTC-124 that just might be able to pull this off. Of course PTC-124 will be of little use for people with the G551D variant!\u003c/p>\n\u003cp>Now having said this, ivacaftor may be more than a one trick pony. In fact, it may be able to help the majority of people with CF in the near future. \u003c/p>\n\u003cfigure id=\"attachment_39195\" class=\"wp-caption alignright\" style=\"max-width: 150px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/06/11/tackling-the-cause-of-cystic-fibrosis-one-mutation-at-a-time/atcgpeople/\" rel=\"attachment wp-att-39195\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/06/atcgPeople.jpg\" alt=\"\" title=\"atcgPeople\" width=\"150\" height=\"184\" class=\"size-full wp-image-39195\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Our genetic uniqueness will make finding cures more difficult.\u003c/figcaption>\u003c/figure>\n\u003cp>Most people with CF have a certain mutation called delta508. Basically the 508th word has gone missing in their CFTR gene.\u003c/p>\n\u003cp>What happens in these cases is that most of the CFTR protein gets lost on its way to the membrane. But a tiny bit does make it to the right place and ivacaftor might be able to boost that little bit enough to help these patients. \u003c/p>\n\u003cp>Ivacaftor is currently in Phase 2 clinical trials to see if it can help patients with the delta508 variant. The results are promising so far.\u003c/p>\n\u003cp>These treatments for CF are showing how we may have to deal with genetic diseases in the future. As I talked about in my last \u003ca href=\"http://ww2.kqed.org/quest/2012/05/28/why-your-newfound-uniqueness-a-nightmare-for-your-doctor/\">blog\u003c/a>, we are all unique genetically. This means that even simple genetic diseases are going to be like CF and come in many different classes that will all have to be treated differently. It also means that new drugs may only help a relatively small number of patients.\u003c/p>\n\u003cp>This last point will require a paradigm shift in how drugs are developed too. Most big pharma companies won’t touch drugs that treat so few people. Ivacaftor is showing us the way here too.\u003c/p>\n\u003cp>The Cystic Fibrosis Foundation provided big pharma with a sizeable chunk of change to get this drug through clinical trials and to the market. The new paradigm may be that interested patient groups collaborate with big pharma to get these “boutique” drugs to market. \u003c/p>\n\u003cp>It’ll be interesting to see if this is a viable business model. But at least for now a minority of CF patients can have real hope.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\u003cem>*These DNA differences go by lots of different names: variant, SNP, mutation, mistake, etc.\u003c/em>\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/quest/39182/tackling-the-cause-of-cystic-fibrosis-one-mutation-at-a-time","authors":["6177"],"categories":["quest_4","quest_12"],"tags":["quest_11181","quest_11182","quest_753","quest_11183","quest_1197","quest_11180","quest_13202","quest_3319"],"featImg":"quest_39185","label":"quest"}},"programsReducer":{"possible":{"id":"possible","title":"Possible","info":"Possible is hosted by entrepreneur Reid Hoffman and writer Aria Finger. Together in Possible, Hoffman and Finger lead enlightening discussions about building a brighter collective future. The show features interviews with visionary guests like Trevor Noah, Sam Altman and Janette Sadik-Khan. 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Hosted by journalists of color, the show tackles the subject of race head-on, exploring how it impacts every part of society — from politics and pop culture to history, sports and more.\u003cbr />\u003cbr />\u003cem>Life Kit\u003c/em>, which will be in the second part of the hour, guides you through spaces and feelings no one prepares you for — from finances to mental health, from workplace microaggressions to imposter syndrome, from relationships to parenting. The show features experts with real world experience and shares their knowledge. 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