Why Your Newfound Uniqueness is a Nightmare for Your Doctor
The Cloud in the Silver Lining
Uncovering Risk One Gene at a Time
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Barry Starr","firstName":"Dr. Barry","lastName":"Starr","slug":"dr-barry-starr","email":"bstarr@thetech.org","display_author_email":false,"staff_mastheads":[],"title":null,"bio":"Dr. Barry Starr (\u003ca href=\"https://twitter.com/geneticsboy\">@geneticsboy\u003c/a>) is a Geneticist-in-Residence at The Tech Museum of Innovation in San Jose, CA and runs their Stanford at The Tech program. 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>. Together these two partners created the \u003ca href=\"http://www.thetech.org/exhibits/permanent/index.php?sGalKey=gtwt&galKey=lt\">Genetics: Technology with a Twist\u003c/a> exhibition.\r\n\r\nYou can also see \u003ca href=\"https://ww2.kqed.org/science/author/dr-barry-starr/\">additional posts by Barry at KQED Science\u003c/a>, and read his \u003ca href=\"http://science.kqed.org/quest/author/dr-barry-starr/\">previous contributions\u003c/a> to \u003ca href=\"http://science.kqed.org/quest/\">QUEST\u003c/a>, a project dedicated to exploring the Science of Sustainability.","avatar":"https://secure.gravatar.com/avatar/4a5680e4c642ea0f0f3041af16018969?s=600&d=blank&r=g","twitter":"geneticsboy","facebook":null,"instagram":null,"linkedin":null,"sites":[{"site":"science","roles":["author"]},{"site":"quest","roles":["subscriber"]}],"headData":{"title":"Dr. Barry Starr | 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FM","link":"/"}},"quest_38751":{"type":"posts","id":"quest_38751","meta":{"index":"posts_1591205157","site":"quest","id":"38751","score":null,"sort":[1338217230000]},"guestAuthors":[],"slug":"why-your-newfound-uniqueness-a-nightmare-for-your-doctor","title":"Why Your Newfound Uniqueness is a Nightmare for Your Doctor","publishDate":1338217230,"format":"standard","headTitle":"QUEST | KQED Science","labelTerm":{"site":"quest"},"content":"\u003cfigure id=\"attachment_38754\" class=\"wp-caption aligncenter\" style=\"max-width: 640px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/05/28/why-your-newfound-uniqueness-a-nightmare-for-your-doctor/humdivinasia/\" rel=\"attachment wp-att-38754\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/05/HumDivInAsia.jpg\" alt=\"\" title=\"HumDivInAsia\" width=\"640\" height=\"356\" class=\"size-full wp-image-38754\" srcset=\"https://ww2.kqed.org/app/uploads/sites/39/2012/05/HumDivInAsia.jpg 640w, https://ww2.kqed.org/app/uploads/sites/39/2012/05/HumDivInAsia-400x223.jpg 400w\" sizes=\"(max-width: 640px) 100vw, 640px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Our surprising genetic diversity will give scientists fits for years.\u003c/figcaption>\u003c/figure>\n\u003cp>A couple of new studies confirm what many of us have feared: each of us is surprisingly unique genetically. This is to be feared because of the impact it will have on the future of personalized medicine. Our individual uniqueness will make predicting our risk for disease much trickier than we thought. And it will make finding treatments that much harder too.\u003c/p>\n\u003cp>You’ve probably read that all humans share somewhere between 99.5% and 99.9% of their DNA. Usually this is translated into saying that we have a difference in our DNA every 1000 bases or so. (By bases I mean the A’s, G’s, C’s, and T’s that make up our DNA.)\u003c/p>\n\u003cp>These differences were supposed to be shared by many people. So a lot of people would have a G at a certain position and the rest of us would have a T. The first \u003ca href=\"http://www.sciencemag.org/content/early/2012/05/16/science.1217876\">study \u003c/a>shows that this is not the case.\u003c/p>\n\u003cp>Instead, we all have many rare DNA differences scattered throughout our DNA. When the researchers looked at 202 different genes from 14,002 people, they found a rare variant every 17 bases or so. This is way higher than many people thought.\u003c/p>\n\u003cp>What’s worse is that these differences aren’t all benign. The other \u003ca href=\"http://www.sciencemag.org/content/early/2012/05/21/science.1219240\">study published in \u003cem>Science\u003c/em>\u003c/a> showed that a surprisingly high percentage, around 2.3%, is predicted to significantly impact a gene. In other words, we are all burdened with many gene-altering and so potentially harmful DNA differences. \u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>So the world of genetics is getting turned on its head yet again. Not so long ago, the idea was that diseases shared a common set of DNA differences. So everyone with sickle cell anemia had a certain DNA difference (or at least a certain few). Same thing with cystic fibrosis and all the other genetic diseases.\u003c/p>\n\u003cfigure id=\"attachment_38759\" class=\"wp-caption alignright\" style=\"max-width: 150px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/05/28/why-your-newfound-uniqueness-a-nightmare-for-your-doctor/manypaths/\" rel=\"attachment wp-att-38759\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/05/ManyPaths.jpg\" alt=\"\" title=\"ManyPaths\" width=\"150\" height=\"343\" class=\"size-full wp-image-38759\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">There are many paths to the same illness.\u003c/figcaption>\u003c/figure>\n\u003cp>Now it looks like there are many individual paths to a disease. For example, while most cases of cystic fibrosis do involve glitches in the CFTR gene, there are lots of glitches that can cause the disease. And that makes figuring out your chances for getting or passing cystic fibrosis to your children even harder.\u003c/p>\n\u003cp>Many (perhaps even most) of us will have DNA differences in our CFTR genes that haven’t been seen before. We don’t yet know which differences can lead to cystic fibrosis.\u003c/p>\n\u003cp>Believe it or not, cystic fibrosis is the easy case; at least it usually involves just one gene. More complex genetic diseases like Type 2 diabetes or \u003ca href=\"http://ww2.kqed.org/quest/video/alzheimers-is-the-cure-in-the-genes/\">Alzheimer’s \u003c/a>are going to be complicated by the fact that many different genes can be involved and we are all littered with unique differences in these genes. \u003c/p>\n\u003cp>For example, there will be a huge set of genes involved in Type 2 diabetes. Each of us will have numerous unique DNA differences strewn throughout these genes. Some of these changes will increase your risk for getting Type 2 diabetes and some will lower your risk.\u003c/p>\n\u003cp>Unfortunately the way scientists can tell if a difference is involved in a disease is by comparing two large groups of people with and without the disease. If a certain DNA difference turns up more often in the disease group, then it may be involved in causing the disease.\u003c/p>\n\u003cp>But now everyone has lots of unique DNA differences, many of which can contribute to disease. The people in the disease group won’t share a lot of the same differences that lead to disease. This means it is going to be hard to figure out which differences matter.\u003c/p>\n\u003cp>Our best bet may be to figure out as much DNA from as many people as possible so we can at least start to get a handle on which genes are involved in a particular disease. Then we can start to explore which DNA differences matter and which ones don’t. One thing is for sure, this is going to take awhile to sort out.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\u003ca href=\"http://www.sciencecodex.com/knowing_genetic_makeup_may_not_significantly_improve_disease_risk_prediction-92164\">\u003cem>This\u003c/em> \u003c/a>\u003cem>came out after I wrote the blog. More evidence that knowing our DNA may not help us out as much as we had hoped.\u003c/em>\u003c/p>\n\n","blocks":[],"excerpt":"A couple of new studies confirm what many of us have feared: each of us is surprisingly unique genetically. This is to be feared because of the impact it will have on the future of personalized medicine. ","status":"publish","parent":0,"modified":1340306592,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":16,"wordCount":718},"headData":{"title":"Why Your Newfound Uniqueness is a Nightmare for Your Doctor | KQED","description":"A couple of new studies confirm what many of us have feared: each of us is surprisingly unique genetically. This is to be feared because of the impact it will have on the future of personalized medicine. ","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"38751 http://science.kqed.org/quest/?p=38751","disqusUrl":"https://ww2.kqed.org/quest/2012/05/28/why-your-newfound-uniqueness-a-nightmare-for-your-doctor/","disqusTitle":"Why Your Newfound Uniqueness is a Nightmare for Your Doctor","path":"/quest/38751/why-your-newfound-uniqueness-a-nightmare-for-your-doctor","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cfigure id=\"attachment_38754\" class=\"wp-caption aligncenter\" style=\"max-width: 640px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/05/28/why-your-newfound-uniqueness-a-nightmare-for-your-doctor/humdivinasia/\" rel=\"attachment wp-att-38754\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/05/HumDivInAsia.jpg\" alt=\"\" title=\"HumDivInAsia\" width=\"640\" height=\"356\" class=\"size-full wp-image-38754\" srcset=\"https://ww2.kqed.org/app/uploads/sites/39/2012/05/HumDivInAsia.jpg 640w, https://ww2.kqed.org/app/uploads/sites/39/2012/05/HumDivInAsia-400x223.jpg 400w\" sizes=\"(max-width: 640px) 100vw, 640px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Our surprising genetic diversity will give scientists fits for years.\u003c/figcaption>\u003c/figure>\n\u003cp>A couple of new studies confirm what many of us have feared: each of us is surprisingly unique genetically. This is to be feared because of the impact it will have on the future of personalized medicine. Our individual uniqueness will make predicting our risk for disease much trickier than we thought. And it will make finding treatments that much harder too.\u003c/p>\n\u003cp>You’ve probably read that all humans share somewhere between 99.5% and 99.9% of their DNA. Usually this is translated into saying that we have a difference in our DNA every 1000 bases or so. (By bases I mean the A’s, G’s, C’s, and T’s that make up our DNA.)\u003c/p>\n\u003cp>These differences were supposed to be shared by many people. So a lot of people would have a G at a certain position and the rest of us would have a T. The first \u003ca href=\"http://www.sciencemag.org/content/early/2012/05/16/science.1217876\">study \u003c/a>shows that this is not the case.\u003c/p>\n\u003cp>Instead, we all have many rare DNA differences scattered throughout our DNA. When the researchers looked at 202 different genes from 14,002 people, they found a rare variant every 17 bases or so. This is way higher than many people thought.\u003c/p>\n\u003cp>What’s worse is that these differences aren’t all benign. The other \u003ca href=\"http://www.sciencemag.org/content/early/2012/05/21/science.1219240\">study published in \u003cem>Science\u003c/em>\u003c/a> showed that a surprisingly high percentage, around 2.3%, is predicted to significantly impact a gene. In other words, we are all burdened with many gene-altering and so potentially harmful DNA differences. \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>So the world of genetics is getting turned on its head yet again. Not so long ago, the idea was that diseases shared a common set of DNA differences. So everyone with sickle cell anemia had a certain DNA difference (or at least a certain few). Same thing with cystic fibrosis and all the other genetic diseases.\u003c/p>\n\u003cfigure id=\"attachment_38759\" class=\"wp-caption alignright\" style=\"max-width: 150px\">\u003ca href=\"http://ww2.kqed.org/quest/2012/05/28/why-your-newfound-uniqueness-a-nightmare-for-your-doctor/manypaths/\" rel=\"attachment wp-att-38759\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2012/05/ManyPaths.jpg\" alt=\"\" title=\"ManyPaths\" width=\"150\" height=\"343\" class=\"size-full wp-image-38759\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">There are many paths to the same illness.\u003c/figcaption>\u003c/figure>\n\u003cp>Now it looks like there are many individual paths to a disease. For example, while most cases of cystic fibrosis do involve glitches in the CFTR gene, there are lots of glitches that can cause the disease. And that makes figuring out your chances for getting or passing cystic fibrosis to your children even harder.\u003c/p>\n\u003cp>Many (perhaps even most) of us will have DNA differences in our CFTR genes that haven’t been seen before. We don’t yet know which differences can lead to cystic fibrosis.\u003c/p>\n\u003cp>Believe it or not, cystic fibrosis is the easy case; at least it usually involves just one gene. More complex genetic diseases like Type 2 diabetes or \u003ca href=\"http://ww2.kqed.org/quest/video/alzheimers-is-the-cure-in-the-genes/\">Alzheimer’s \u003c/a>are going to be complicated by the fact that many different genes can be involved and we are all littered with unique differences in these genes. \u003c/p>\n\u003cp>For example, there will be a huge set of genes involved in Type 2 diabetes. Each of us will have numerous unique DNA differences strewn throughout these genes. Some of these changes will increase your risk for getting Type 2 diabetes and some will lower your risk.\u003c/p>\n\u003cp>Unfortunately the way scientists can tell if a difference is involved in a disease is by comparing two large groups of people with and without the disease. If a certain DNA difference turns up more often in the disease group, then it may be involved in causing the disease.\u003c/p>\n\u003cp>But now everyone has lots of unique DNA differences, many of which can contribute to disease. The people in the disease group won’t share a lot of the same differences that lead to disease. This means it is going to be hard to figure out which differences matter.\u003c/p>\n\u003cp>Our best bet may be to figure out as much DNA from as many people as possible so we can at least start to get a handle on which genes are involved in a particular disease. Then we can start to explore which DNA differences matter and which ones don’t. One thing is for sure, this is going to take awhile to sort out.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\u003ca href=\"http://www.sciencecodex.com/knowing_genetic_makeup_may_not_significantly_improve_disease_risk_prediction-92164\">\u003cem>This\u003c/em> \u003c/a>\u003cem>came out after I wrote the blog. More evidence that knowing our DNA may not help us out as much as we had hoped.\u003c/em>\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/quest/38751/why-your-newfound-uniqueness-a-nightmare-for-your-doctor","authors":["6177"],"categories":["quest_4","quest_12"],"tags":["quest_838","quest_3546","quest_1192","quest_11155","quest_1197","quest_3974","quest_13202","quest_3319"],"featImg":"quest_38754","label":"quest"},"quest_19244":{"type":"posts","id":"quest_19244","meta":{"index":"posts_1591205157","site":"quest","id":"19244","score":null,"sort":[1308587263000]},"guestAuthors":[],"slug":"the-cloud-in-the-silver-lining","title":"The Cloud in the Silver Lining","publishDate":1308587263,"format":"standard","headTitle":"QUEST | KQED Science","labelTerm":{"site":"quest"},"content":"\u003cp>\u003cspan class=\"left\">\u003ca href=\"http://www.kqed.org/quest\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2011/06/SilverLining.jpg\" alt=\"\">\u003c/a>\u003cem>My lower risk for Alzheimer's may be the silver lining\u003cbr>to being e2/e2 at APOE.\u003cbr>Image courtesy of \u003ca href=\"http://commons.wikimedia.org/wiki/File:Silver_Lining.JPG\">ImUnicke\u003c/a>\u003c/em>\u003c/span>\u003c/p>\n\u003cp>When last I left you in my \u003ca href=\"http://ww2.kqed.org/quest/2011/05/23/uncovering-risk-one-gene-at-a-time/\">personal genomic journey\u003c/a>, I had just discovered that I was e2/e2 at the APOE gene. I was quietly giddy* about this as it meant I was at a lower risk for getting Alzheimer’s. And even more importantly, it meant I didn’t have e4 which would have significantly increased my chances of getting this form of dementia.\u003c/p>\n\u003cp>Digging a bit deeper I found some more good news. People with e2/e2 usually have lower levels of LDL, the bad cholesterol that increases the risk for a heart attack. This is consistent with my low levels of LDL. Two good effects from one allele!\u003c/p>\n\u003cp>\u003c!--more-->\u003c/p>\n\u003cp>But there are no free lunches in genetics. For example, having two copies of the delta32 version of the CCR5 gene makes you \u003ca href=\"http://www.thetech.org/exhibits/online/ugenetics/ask.php?id=336\">pretty resistant to HIV infection\u003c/a>. But it makes you more susceptible to the West Nile Virus. Having one copy of the sickle cell version of the hemoglobin gene makes you \u003ca href=\"http://www.thetech.org/exhibits/online/ugenetics/ask.php?id=271\">resistant to malaria\u003c/a>. But your kids might end up with full blown sickle cell anemia. And so on.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>The e2 version of the APOE gene is no different. It makes me less likely to get Alzheimer’s and, most of the time, to have a heart attack. But it means that I can end up with higher triglycerides from what I eat. This is consistent with what I have seen at the doctor’s. \u003c/p>\n\u003cp>Triglycerides are actually an independent predictor of heart attack risk. So even though my LDL is low, I need to watch my diet to keep the triglycerides down. If I am not careful, my increased triglycerides might cancel out my decreased LDL and so change my reduced heart attack risk to an increased one. \u003c/p>\n\u003cp>Being e2/e2 also puts me at risk for a relatively rare disease called \u003ca href=\"http://www.kimballgenetics.com/tests-apo_e.html\">hyperlipoproteinemia type III\u003c/a> (HLP type 3). One reason this disease is rare is because being e2/e2 is rare. For example, only around 0.4% of people of European background have this genetic combination.\u003c/p>\n\u003cp>But HLP type 3 is obviously more common for me since I am in that 0.4% group already. Still, only 2% of e2/e2 people end up with HLP type 3 so it is a low risk for me. I decided to look into it anyway.\u003c/p>\n\u003cp>This disease has various symptoms but the most worrisome ones for me are increased risk of heart attack and abnormal glucose tolerance. My fasting glucose levels are stubbornly high whenever I take my yearly blood test. Which makes me wonder if this genetic difference is affecting my glucose tolerance and I am on my way to HLP type 3.\u003c/p>\n\u003cp>Of course, lots of genetic differences are involved in establishing someone’s glucose tolerance. And the environment plays a role too. So my glucose tolerance might have nothing to do with me starting to get HLP type 3.\u003c/p>\n\u003cp>Still, I am definitely going to ask my doctor about it at my next visit. It is rare but there are specific blood tests I can ask for that can tell me if I have this condition. Who’d have thought that a lowered risk of Alzheimer’s would only be a silver lining…\u003c/p>\n\u003cp>*\u003cem>Well, more of a measured giddiness. I know this is just one of the many genes involved in Alzheimer’s but still, it was good news\u003c/em>.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp> 37.3393857 -121.8949555\u003c/p>\n\n","blocks":[],"excerpt":"There are no free lunches in genetics. Having a certain version of a gene may protect you from one thing, but make you susceptible to another.","status":"publish","parent":0,"modified":1308587263,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":16,"wordCount":598},"headData":{"title":"The Cloud in the Silver Lining | KQED","description":"There are no free lunches in genetics. Having a certain version of a gene may protect you from one thing, but make you susceptible to another.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"19244 http://www.kqed.org/quest/blog/2011/06/20/the-cloud-in-the-silver-lining/","disqusUrl":"https://ww2.kqed.org/quest/2011/06/20/the-cloud-in-the-silver-lining/","disqusTitle":"The Cloud in the Silver Lining","path":"/quest/19244/the-cloud-in-the-silver-lining","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>\u003cspan class=\"left\">\u003ca href=\"http://www.kqed.org/quest\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2011/06/SilverLining.jpg\" alt=\"\">\u003c/a>\u003cem>My lower risk for Alzheimer's may be the silver lining\u003cbr>to being e2/e2 at APOE.\u003cbr>Image courtesy of \u003ca href=\"http://commons.wikimedia.org/wiki/File:Silver_Lining.JPG\">ImUnicke\u003c/a>\u003c/em>\u003c/span>\u003c/p>\n\u003cp>When last I left you in my \u003ca href=\"http://ww2.kqed.org/quest/2011/05/23/uncovering-risk-one-gene-at-a-time/\">personal genomic journey\u003c/a>, I had just discovered that I was e2/e2 at the APOE gene. I was quietly giddy* about this as it meant I was at a lower risk for getting Alzheimer’s. And even more importantly, it meant I didn’t have e4 which would have significantly increased my chances of getting this form of dementia.\u003c/p>\n\u003cp>Digging a bit deeper I found some more good news. People with e2/e2 usually have lower levels of LDL, the bad cholesterol that increases the risk for a heart attack. This is consistent with my low levels of LDL. Two good effects from one allele!\u003c/p>\n\u003cp>\u003c!--more-->\u003c/p>\n\u003cp>But there are no free lunches in genetics. For example, having two copies of the delta32 version of the CCR5 gene makes you \u003ca href=\"http://www.thetech.org/exhibits/online/ugenetics/ask.php?id=336\">pretty resistant to HIV infection\u003c/a>. But it makes you more susceptible to the West Nile Virus. Having one copy of the sickle cell version of the hemoglobin gene makes you \u003ca href=\"http://www.thetech.org/exhibits/online/ugenetics/ask.php?id=271\">resistant to malaria\u003c/a>. But your kids might end up with full blown sickle cell anemia. And so on.\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 e2 version of the APOE gene is no different. It makes me less likely to get Alzheimer’s and, most of the time, to have a heart attack. But it means that I can end up with higher triglycerides from what I eat. This is consistent with what I have seen at the doctor’s. \u003c/p>\n\u003cp>Triglycerides are actually an independent predictor of heart attack risk. So even though my LDL is low, I need to watch my diet to keep the triglycerides down. If I am not careful, my increased triglycerides might cancel out my decreased LDL and so change my reduced heart attack risk to an increased one. \u003c/p>\n\u003cp>Being e2/e2 also puts me at risk for a relatively rare disease called \u003ca href=\"http://www.kimballgenetics.com/tests-apo_e.html\">hyperlipoproteinemia type III\u003c/a> (HLP type 3). One reason this disease is rare is because being e2/e2 is rare. For example, only around 0.4% of people of European background have this genetic combination.\u003c/p>\n\u003cp>But HLP type 3 is obviously more common for me since I am in that 0.4% group already. Still, only 2% of e2/e2 people end up with HLP type 3 so it is a low risk for me. I decided to look into it anyway.\u003c/p>\n\u003cp>This disease has various symptoms but the most worrisome ones for me are increased risk of heart attack and abnormal glucose tolerance. My fasting glucose levels are stubbornly high whenever I take my yearly blood test. Which makes me wonder if this genetic difference is affecting my glucose tolerance and I am on my way to HLP type 3.\u003c/p>\n\u003cp>Of course, lots of genetic differences are involved in establishing someone’s glucose tolerance. And the environment plays a role too. So my glucose tolerance might have nothing to do with me starting to get HLP type 3.\u003c/p>\n\u003cp>Still, I am definitely going to ask my doctor about it at my next visit. It is rare but there are specific blood tests I can ask for that can tell me if I have this condition. Who’d have thought that a lowered risk of Alzheimer’s would only be a silver lining…\u003c/p>\n\u003cp>*\u003cem>Well, more of a measured giddiness. I know this is just one of the many genes involved in Alzheimer’s but still, it was good news\u003c/em>.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp> 37.3393857 -121.8949555\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/quest/19244/the-cloud-in-the-silver-lining","authors":["6177"],"categories":["quest_4"],"tags":["quest_134","quest_135","quest_3458","quest_3546","quest_3553","quest_3555","quest_1192","quest_1197","quest_1332","quest_3610","quest_2162","quest_3804"],"featImg":"quest_15236","label":"quest"},"quest_14601":{"type":"posts","id":"quest_14601","meta":{"index":"posts_1591205157","site":"quest","id":"14601","score":null,"sort":[1306166662000]},"guestAuthors":[],"slug":"uncovering-risk-one-gene-at-a-time","title":"Uncovering Risk One Gene at a Time","publishDate":1306166662,"format":"standard","headTitle":"QUEST | KQED Science","labelTerm":{"site":"quest"},"content":"\u003cp>\u003cspan class=\"left\">\u003ca href=\"http://www.kqed.org/quest\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2011/05/MathFormula2.jpg\" alt=\"\">\u003c/a>\u003cem>Many genetic tests just uncover one small bit of\u003cbr>your disease risk formula.\u003cbr>Image courtesy of \u003ca href=\"http://en.wikipedia.org/wiki/File:Math_lecture_at_TKK.JPG\">Tungsten\u003c/a>\u003c/em>\u003c/span>\u003c/p>\n\u003cp>Since 23andMe is offering data on Alzheimer’s risk but only with an upgrade, I decided to get that upgrade. I got the new results last week and opened it right up. There was a new Alzheimer’s link with a little lock on it.\u003c/p>\n\u003cp>The lock is to keep me out until I feel ready to deal with the news. Well, I’m ready…\u003c/p>\n\u003cp>When I opened the lock, I was given information about one gene, APOE. This was pretty disappointing. In my case, I was able to guess my APOE status with the old information. \u003c/p>\n\u003cp>I understand that for people who couldn’t guess their APOE status before that these new results might be useful. But I expected more. Lots of genes all impact our risk of getting Alzheimer’s and scientists are making real progress figuring these out.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>\u003c!--more-->\u003c/p>\n\u003cp>What I was hoping to see was a compilation of all the information out there. See, my APOE data suggests that I am at a lower risk. But what if all my other genes are of the wrong type and put me at a higher risk? Then I might be at a higher risk than I think I am.\u003c/p>\n\u003cp>And my situation is better than people who have APOE gene versions that put them at a higher risk. What if all of their other genes put them at a lower risk? Now they are worried for no reason.\u003c/p>\n\u003cp>This points to one of the big issues with genetic tests and complex genetic diseases. Right now we know a bit about some of the genes involved but we don’t yet know the whole story. \u003c/p>\n\u003cp>It is kind of like having a whiteboard with a vast, awful, Jimmy Neutronesque formula scrawled across it. This is our genetic risk for getting something like Alzheimer’s. \u003c/p>\n\u003cp>Unfortunately, a blanket of ignorance hides most of the formula from us. We can only get a glimpse of one small part of it. What we then try to do is figure out our risk from that glimpse.\u003c/p>\n\u003cp>So let’s say we manage to uncover a bit of the blanket in the corner and we see a 0.5X. Does that mean that I am half as likely to get Alzheimer’s? Hardly. We have managed to see a piece of the whole formula but the rest remains hidden.\u003c/p>\n\u003cp>My APOE status is really just a bit of the formula for my Alzheimer’s risk peeking out from under the blanket. I don’t know the rest of the formula and so don’t know the rest of the risk.\u003c/p>\n\u003cp>APOE status is a well-studied risk that we know a lot about. We have completely uncovered it on our whiteboard. Some studies are staring to reveal other parts of the board but they aren’t completely clear yet. This is probably why 23andMe left them out.\u003c/p>\n\u003cp>I decided to look at the hazy parts of my equation using good old \u003ca href=\"http://www.snpedia.com/index.php/SNPedia\">SNPedia\u003c/a>. Remember, they have lots of information about DNA variants and disease that isn’t as filtered as is 23andMe’s. \u003c/p>\n\u003cp>Here is what I found when I put my data from 23andMe through SNPedia. I have listed the SNP, what I have at the SNP (the allele), and my risk for Alzheimer’s for those that give me a higher or lower chance for Alzheimer’s. I haven’t put in the ones that have normal risk.\u003c/p>\n\u003cp>\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2011/05/AlzTable2.jpg\">\u003c/p>\n\u003cp>I came out very well here. I am at a much lower risk for getting Alzheimer’s when I look at these SNPs. Yay! \u003c/p>\n\u003cp>But what if I just had s4934 data? I would come out thinking I was at a higher risk when I am actually at a lower one. Lots of needless worry over nothing…\u003c/p>\n\u003cp>Now I shouldn’t get complacent, this is still only a bit of my risk for Alzheimer’s. There may be some killer SNP lurking in my DNA, ready to spring Alzheimer’s on me. Or a long list of small, not-yet-discovered SNPs that will eat away at my supposed lower risk for Alzheimer’s. We just don’t know yet.\u003c/p>\n\u003cp>And I haven’t even begun to talk about environmental impacts. We know so little about that one with Alzheimer’s that we haven’t even found the whiteboard yet!\u003c/p>\n\u003cp>\u003c/p>\n\u003cp> 37.7749295 -122.4194155\u003c/p>\n\n","blocks":[],"excerpt":"Genetic tests for complex diseases just tell you part of your genetic risk and nothing about your environmental risks.","status":"publish","parent":0,"modified":1306166662,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":24,"wordCount":774},"headData":{"title":"Uncovering Risk One Gene at a Time | KQED","description":"Genetic tests for complex diseases just tell you part of your genetic risk and nothing about your environmental risks.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"14601 http://www.kqed.org/quest/blog/2011/05/23/uncovering-risk-one-gene-at-a-time/","disqusUrl":"https://ww2.kqed.org/quest/2011/05/23/uncovering-risk-one-gene-at-a-time/","disqusTitle":"Uncovering Risk One Gene at a Time","path":"/quest/14601/uncovering-risk-one-gene-at-a-time","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>\u003cspan class=\"left\">\u003ca href=\"http://www.kqed.org/quest\">\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2011/05/MathFormula2.jpg\" alt=\"\">\u003c/a>\u003cem>Many genetic tests just uncover one small bit of\u003cbr>your disease risk formula.\u003cbr>Image courtesy of \u003ca href=\"http://en.wikipedia.org/wiki/File:Math_lecture_at_TKK.JPG\">Tungsten\u003c/a>\u003c/em>\u003c/span>\u003c/p>\n\u003cp>Since 23andMe is offering data on Alzheimer’s risk but only with an upgrade, I decided to get that upgrade. I got the new results last week and opened it right up. There was a new Alzheimer’s link with a little lock on it.\u003c/p>\n\u003cp>The lock is to keep me out until I feel ready to deal with the news. Well, I’m ready…\u003c/p>\n\u003cp>When I opened the lock, I was given information about one gene, APOE. This was pretty disappointing. In my case, I was able to guess my APOE status with the old information. \u003c/p>\n\u003cp>I understand that for people who couldn’t guess their APOE status before that these new results might be useful. But I expected more. Lots of genes all impact our risk of getting Alzheimer’s and scientists are making real progress figuring these out.\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>\u003c!--more-->\u003c/p>\n\u003cp>What I was hoping to see was a compilation of all the information out there. See, my APOE data suggests that I am at a lower risk. But what if all my other genes are of the wrong type and put me at a higher risk? Then I might be at a higher risk than I think I am.\u003c/p>\n\u003cp>And my situation is better than people who have APOE gene versions that put them at a higher risk. What if all of their other genes put them at a lower risk? Now they are worried for no reason.\u003c/p>\n\u003cp>This points to one of the big issues with genetic tests and complex genetic diseases. Right now we know a bit about some of the genes involved but we don’t yet know the whole story. \u003c/p>\n\u003cp>It is kind of like having a whiteboard with a vast, awful, Jimmy Neutronesque formula scrawled across it. This is our genetic risk for getting something like Alzheimer’s. \u003c/p>\n\u003cp>Unfortunately, a blanket of ignorance hides most of the formula from us. We can only get a glimpse of one small part of it. What we then try to do is figure out our risk from that glimpse.\u003c/p>\n\u003cp>So let’s say we manage to uncover a bit of the blanket in the corner and we see a 0.5X. Does that mean that I am half as likely to get Alzheimer’s? Hardly. We have managed to see a piece of the whole formula but the rest remains hidden.\u003c/p>\n\u003cp>My APOE status is really just a bit of the formula for my Alzheimer’s risk peeking out from under the blanket. I don’t know the rest of the formula and so don’t know the rest of the risk.\u003c/p>\n\u003cp>APOE status is a well-studied risk that we know a lot about. We have completely uncovered it on our whiteboard. Some studies are staring to reveal other parts of the board but they aren’t completely clear yet. This is probably why 23andMe left them out.\u003c/p>\n\u003cp>I decided to look at the hazy parts of my equation using good old \u003ca href=\"http://www.snpedia.com/index.php/SNPedia\">SNPedia\u003c/a>. Remember, they have lots of information about DNA variants and disease that isn’t as filtered as is 23andMe’s. \u003c/p>\n\u003cp>Here is what I found when I put my data from 23andMe through SNPedia. I have listed the SNP, what I have at the SNP (the allele), and my risk for Alzheimer’s for those that give me a higher or lower chance for Alzheimer’s. I haven’t put in the ones that have normal risk.\u003c/p>\n\u003cp>\u003cimg src=\"http://ww2.kqed.org/quest/wp-content/uploads/sites/39/2011/05/AlzTable2.jpg\">\u003c/p>\n\u003cp>I came out very well here. I am at a much lower risk for getting Alzheimer’s when I look at these SNPs. Yay! \u003c/p>\n\u003cp>But what if I just had s4934 data? I would come out thinking I was at a higher risk when I am actually at a lower one. Lots of needless worry over nothing…\u003c/p>\n\u003cp>Now I shouldn’t get complacent, this is still only a bit of my risk for Alzheimer’s. There may be some killer SNP lurking in my DNA, ready to spring Alzheimer’s on me. Or a long list of small, not-yet-discovered SNPs that will eat away at my supposed lower risk for Alzheimer’s. We just don’t know yet.\u003c/p>\n\u003cp>And I haven’t even begun to talk about environmental impacts. We know so little about that one with Alzheimer’s that we haven’t even found the whiteboard yet!\u003c/p>\n\u003cp>\u003c/p>\n\u003cp> 37.7749295 -122.4194155\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/quest/14601/uncovering-risk-one-gene-at-a-time","authors":["6177"],"categories":["quest_4"],"tags":["quest_43","quest_134","quest_135","quest_3458","quest_3530","quest_3545","quest_3546","quest_3552","quest_1195","quest_2436","quest_3768"],"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. Possible paints an optimistic portrait of the world we can create through science, policy, business, art and our shared humanity. It asks: What if everything goes right for once? How can we get there? Each episode also includes a short fiction story generated by advanced AI GPT-4, serving as a thought-provoking springboard to speculate how humanity could leverage technology for good.","airtime":"SUN 2pm","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Possible-Podcast-Tile-360x360-1.jpg","officialWebsiteLink":"https://www.possible.fm/","meta":{"site":"news","source":"Possible"},"link":"/radio/program/possible","subscribe":{"apple":"https://podcasts.apple.com/us/podcast/possible/id1677184070","spotify":"https://open.spotify.com/show/730YpdUSNlMyPQwNnyjp4k"}},"1a":{"id":"1a","title":"1A","info":"1A is home to the national conversation. 1A brings on great guests and frames the best debate in ways that make you think, share and engage.","airtime":"MON-THU 11pm-12am","imageSrc":"https://ww2.kqed.org/radio/wp-content/uploads/sites/50/2018/04/1a.jpg","officialWebsiteLink":"https://the1a.org/","meta":{"site":"news","source":"npr"},"link":"/radio/program/1a","subscribe":{"npr":"https://rpb3r.app.goo.gl/RBrW","apple":"https://itunes.apple.com/WebObjects/MZStore.woa/wa/viewPodcast?s=143441&mt=2&id=1188724250&at=11l79Y&ct=nprdirectory","tuneIn":"https://tunein.com/radio/1A-p947376/","rss":"https://feeds.npr.org/510316/podcast.xml"}},"all-things-considered":{"id":"all-things-considered","title":"All Things Considered","info":"Every weekday, \u003cem>All Things Considered\u003c/em> hosts Robert Siegel, Audie Cornish, Ari Shapiro, and Kelly McEvers present the program's trademark mix of news, interviews, commentaries, reviews, and offbeat features. 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You can also visit the MindShift website for episodes and supplemental blog posts or tweet us \u003ca href=\"https://twitter.com/MindShiftKQED\">@MindShiftKQED\u003c/a> or visit us at \u003ca href=\"/mindshift\">MindShift.KQED.org\u003c/a>","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Mindshift-Podcast-Tile-703x703-1.jpg","imageAlt":"KQED MindShift: How We Will Learn","officialWebsiteLink":"/mindshift/","meta":{"site":"news","source":"kqed","order":"2"},"link":"/podcasts/mindshift","subscribe":{"apple":"https://podcasts.apple.com/us/podcast/mindshift-podcast/id1078765985","google":"https://podcasts.google.com/feed/aHR0cHM6Ly9mZWVkcy5tZWdhcGhvbmUuZm0vS1FJTkM1NzY0NjAwNDI5","npr":"https://www.npr.org/podcasts/464615685/mind-shift-podcast","stitcher":"https://www.stitcher.com/podcast/kqed/stories-teachers-share","spotify":"https://open.spotify.com/show/0MxSpNYZKNprFLCl7eEtyx"}},"morning-edition":{"id":"morning-edition","title":"Morning Edition","info":"\u003cem>Morning Edition\u003c/em> takes listeners around the country and the world with multi-faceted stories and commentaries every weekday. 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On Our Watch brings listeners into the rooms where officers are questioned and witnesses are interrogated to find out who this system is really protecting. Is it the officers, or the public they've sworn to serve?","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/On-Our-Watch-Podcast-Tile-703x703-1.jpg","imageAlt":"On Our Watch from NPR and KQED","officialWebsiteLink":"/podcasts/onourwatch","meta":{"site":"news","source":"kqed","order":"1"},"link":"/podcasts/onourwatch","subscribe":{"apple":"https://podcasts.apple.com/podcast/id1567098962","google":"https://podcasts.google.com/feed/aHR0cHM6Ly9mZWVkcy5ucHIub3JnLzUxMDM2MC9wb2RjYXN0LnhtbD9zYz1nb29nbGVwb2RjYXN0cw","npr":"https://rpb3r.app.goo.gl/onourwatch","spotify":"https://open.spotify.com/show/0OLWoyizopu6tY1XiuX70x","tuneIn":"https://tunein.com/radio/On-Our-Watch-p1436229/","stitcher":"https://www.stitcher.com/show/on-our-watch","rss":"https://feeds.npr.org/510360/podcast.xml"}},"on-the-media":{"id":"on-the-media","title":"On The Media","info":"Our weekly podcast explores how the media 'sausage' is made, casts an incisive eye on fluctuations in the marketplace of ideas, and examines threats to the freedom of information and expression in America and abroad. 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