Fitbit Used in ER to Determine Treatment of Irregular Heartbeat
No, Your DNA Won't Predict Your Risk for Disease Anytime Soon
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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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A few things that are pretty useful, it turns out.\u003c/p>\n\u003cp>Doctors at an emergency room in New Jersey recently used heart-rate data from a patient's Fitbit to quickly figure out what treatment he needed to get his suddenly irregular heartbeat under control. They \u003ca href=\"http://www.annemergmed.com/article/S0196-0644%2816%2900143-8/abstract\">published\u003c/a> the case study online this month in the \u003cem>Annals of Emergency Medicine\u003c/em>.\u003c/p>\n\u003cp>The patient showed up at the ER after a grand mal seizure, a little foggy and with no idea his heart was in trouble.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>\"He came in with atrial fibrillation, and he didn't recognize he was in it,\" \u003ca href=\"https://www.ebmedicine.net/content.php?action=showPage&pid=280&cat_id=1\">Dr. Alfred Sacchetti\u003c/a>, head of emergency medicine at the Our Lady of Lourdes Medical Center, in Camden, N.J., tells Shots. \u003ca href=\"http://www.nhlbi.nih.gov/health/health-topics/topics/arr/types\">Atrial fibrillation\u003c/a> is when the two upper chambers of the heart quiver very quickly and erratically.\u003c/p>\n\u003cp>\"And so the team asked him,\" Sacchetti recalls, \" 'Do you feel your heart racing?' He said, 'No, I really don't feel anything. I feel perfectly fine.' \"\u003c/p>\n\u003cp>But he wasn't fine.\u003c/p>\n\u003cp>That's because a patient with atrial fibrillation is at increased risk of having a stroke. When the heart's chambers aren't in sync, blood may not fully empty from the upper chambers into the lower ones. If it pools long enough in the upper chambers, that blood can clot. A piece of the clot may break off, move through the circulatory system, and block blood flow to the brain — a stroke.\u003c/p>\n\u003cp>So when the doctors in New Jersey couldn't determine when the fibrillation began, they had to assume it might have been going on long enough to cause a clot.\u003c/p>\n\u003cp>At Our Lady of Lourdes, doctors prefer to treat atrial fibrillation aggressively — shocking the patient's heart to get it back into a normal rhythm, Sacchetti says. If it works, the patient can usually go home the same day, with no medication.\u003c/p>\n\u003cp>But if the abnormal heart beat has been going on for more than 48 hours, the risk of a clot is high.\u003c/p>\n\u003cp>In that case \"he needs to get admitted to the hospital, put on [medication] to dissolve the clot, if it's there, and then perform a special echocardiogram through the patient's mouth and into the esophagus so you can get a good look at the heart,\" Sacchetti says.\u003c/p>\n\u003cp>But this patient was wearing a Fitbit fitness tracker that \u003ca href=\"https://www.fitbit.com/chargehr#features\">had a heart rate monitor,\u003c/a> and connected wirelessly to his smartphone. With his permission, the doctors checked the data on the phone and figured out that the episode of arrhythmia had only begun about two hours before he showed up at the ER.\u003c/p>\n\u003cp>\"We were able to hook him up to the pads, put him to sleep, give him a little shock, and let him wake up and go home,\" Sacchetti says.\u003c/p>\n\u003cp>Sacchetti is quick to point out that a Fitbit, or any other fitness tracker, is not a medical device; the information it provides is limited and varies from model to model.\u003c/p>\n\u003cp>But the doctor and his collaborators in the case study think such trackers might come in handy in other situations — such as when patients' symptoms ease before they arrive at the hospital.\u003c/p>\n\u003cp>When a patient comes in complaining of a sudden dizzy spell earlier in the day, for example, it might stem from a rapid heartbeat, or a sudden slowing. Or it might have nothing at all to do with the heart.\u003c/p>\n\u003cp>\"If your heart rate dropped extremely low, we're probably going to keep you in the hospital\" Sacchetti says. \"If it just went fast for a short period of time, we're probably going to just put a Holter monitor on you and send you home.\"\u003c/p>\n\u003cp>A fitness tracker that monitors the heart might help doctors more quickly figure out which treatment to use.\u003c/p>\n\u003cp>But \u003ca href=\"http://www.npr.org/sections/health-shots/2015/01/19/377486437/sure-you-can-track-your-health-data-but-can-your-doctor-use-it\">some other doctors are skeptical\u003c/a> of the medical usefulness of the gadgets.\u003c/p>\n\u003cp>\"This was interesting but not highly applicable and won't really change how we're going to do anything,\" says \u003ca href=\"https://www.stvincent.org/St-Vincent-Indianapolis/Healthcare-Services/Transplant/Heart-Transplant/Heart-Transplant-Team.aspx\">Dr. Mary Norine Walsh\u003c/a>, a cardiologist and director of the heart failure and cardiac transplantation programs at St. Vincent Medical Center, in Indianapolis.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\"There are no reliable studies showing whether fitness tracker data is accurate,\" Walsh says, and those studies would need to be done before physicians would use the devices widely.\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2016 NPR. To see more, visit http://www.npr.org/.\u003cimg src=\"http://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=A+Fitbit+Saved+His+Life%3F+Well%2C+Maybe&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\" alt=\"\">\u003c/div>\n\n","blocks":[],"excerpt":"A man shows up in the emergency room with a speedy, irregular heartbeat, but can't say when it first went awry. No problem. The ER doctors just checked the phone records of his fitness tracker.","status":"publish","parent":0,"modified":1476933450,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":25,"wordCount":782},"headData":{"title":"Fitbit Used in ER to Determine Treatment of Irregular Heartbeat | KQED","description":"A man shows up in the emergency room with a speedy, irregular heartbeat, but can't say when it first went awry. No problem. The ER doctors just checked the phone records of his fitness tracker.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"Fitbit Used in ER to Determine Treatment of Irregular Heartbeat","datePublished":"2016-04-11T14:23:01.000Z","dateModified":"2016-10-20T03:17:30.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"143837 http://ww2.kqed.org/futureofyou/?p=143837","disqusUrl":"https://ww2.kqed.org/futureofyou/2016/04/11/fitbit-used-in-er-to-determine-treatment-of-irregular-heartbeat/","disqusTitle":"Fitbit Used in ER to Determine Treatment of Irregular Heartbeat","nprByline":"Alison Kodjak\u003cbr />NPR Shots","nprImageAgency":"iStockphoto","nprStoryId":"473393761","nprApiLink":"http://api.npr.org/query?id=473393761&apiKey=MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004","nprHtmlLink":"http://www.npr.org/sections/health-shots/2016/04/11/473393761/a-fitbit-saved-his-life-well-maybe?ft=nprml&f=473393761","nprRetrievedStory":"1","nprPubDate":"Mon, 11 Apr 2016 08:57:00 -0400","nprStoryDate":"Mon, 11 Apr 2016 04:40:00 -0400","nprLastModifiedDate":"Mon, 11 Apr 2016 08:57:58 -0400","nprAudio":"http://pd.npr.org/anon.npr-mp3/npr/me/2016/04/20160411_me_a_fitbit_saved_his_life_well_maybe.mp3?orgId=1&topicId=1128&d=115&p=3&story=473393761&t=progseg&e=473771543&seg=3&ft=nprml&f=473393761","nprAudioM3u":"http://api.npr.org/m3u/1473772725-0bef54.m3u?orgId=1&topicId=1128&d=115&p=3&story=473393761&t=progseg&e=473771543&seg=3&ft=nprml&f=473393761","path":"/futureofyou/143837/fitbit-used-in-er-to-determine-treatment-of-irregular-heartbeat","audioUrl":"http://pd.npr.org/anon.npr-mp3/npr/me/2016/04/20160411_me_a_fitbit_saved_his_life_well_maybe.mp3?orgId=1&topicId=1128&d=115&p=3&story=473393761&t=progseg&e=473771543&seg=3&ft=nprml&f=473393761","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>Wearing a Fitbit?\u003c/p>\n\u003cp>If so, you already know that electronic \u003ca href=\"http://www.npr.org/sections/alltechconsidered/2015/06/17/415267866/as-fitbit-goes-public-it-will-have-to-outrun-competition\">fitness trackers\u003c/a> can let you keep records on your smartphone of how many steps you've walked, how much you've slept, maybe your heart rate, or even where you've been.\u003c/p>\n\u003cp>But what can the gadget tell your doctor? A few things that are pretty useful, it turns out.\u003c/p>\n\u003cp>Doctors at an emergency room in New Jersey recently used heart-rate data from a patient's Fitbit to quickly figure out what treatment he needed to get his suddenly irregular heartbeat under control. They \u003ca href=\"http://www.annemergmed.com/article/S0196-0644%2816%2900143-8/abstract\">published\u003c/a> the case study online this month in the \u003cem>Annals of Emergency Medicine\u003c/em>.\u003c/p>\n\u003cp>The patient showed up at the ER after a grand mal seizure, a little foggy and with no idea his heart was in trouble.\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>\"He came in with atrial fibrillation, and he didn't recognize he was in it,\" \u003ca href=\"https://www.ebmedicine.net/content.php?action=showPage&pid=280&cat_id=1\">Dr. Alfred Sacchetti\u003c/a>, head of emergency medicine at the Our Lady of Lourdes Medical Center, in Camden, N.J., tells Shots. \u003ca href=\"http://www.nhlbi.nih.gov/health/health-topics/topics/arr/types\">Atrial fibrillation\u003c/a> is when the two upper chambers of the heart quiver very quickly and erratically.\u003c/p>\n\u003cp>\"And so the team asked him,\" Sacchetti recalls, \" 'Do you feel your heart racing?' He said, 'No, I really don't feel anything. I feel perfectly fine.' \"\u003c/p>\n\u003cp>But he wasn't fine.\u003c/p>\n\u003cp>That's because a patient with atrial fibrillation is at increased risk of having a stroke. When the heart's chambers aren't in sync, blood may not fully empty from the upper chambers into the lower ones. If it pools long enough in the upper chambers, that blood can clot. A piece of the clot may break off, move through the circulatory system, and block blood flow to the brain — a stroke.\u003c/p>\n\u003cp>So when the doctors in New Jersey couldn't determine when the fibrillation began, they had to assume it might have been going on long enough to cause a clot.\u003c/p>\n\u003cp>At Our Lady of Lourdes, doctors prefer to treat atrial fibrillation aggressively — shocking the patient's heart to get it back into a normal rhythm, Sacchetti says. If it works, the patient can usually go home the same day, with no medication.\u003c/p>\n\u003cp>But if the abnormal heart beat has been going on for more than 48 hours, the risk of a clot is high.\u003c/p>\n\u003cp>In that case \"he needs to get admitted to the hospital, put on [medication] to dissolve the clot, if it's there, and then perform a special echocardiogram through the patient's mouth and into the esophagus so you can get a good look at the heart,\" Sacchetti says.\u003c/p>\n\u003cp>But this patient was wearing a Fitbit fitness tracker that \u003ca href=\"https://www.fitbit.com/chargehr#features\">had a heart rate monitor,\u003c/a> and connected wirelessly to his smartphone. With his permission, the doctors checked the data on the phone and figured out that the episode of arrhythmia had only begun about two hours before he showed up at the ER.\u003c/p>\n\u003cp>\"We were able to hook him up to the pads, put him to sleep, give him a little shock, and let him wake up and go home,\" Sacchetti says.\u003c/p>\n\u003cp>Sacchetti is quick to point out that a Fitbit, or any other fitness tracker, is not a medical device; the information it provides is limited and varies from model to model.\u003c/p>\n\u003cp>But the doctor and his collaborators in the case study think such trackers might come in handy in other situations — such as when patients' symptoms ease before they arrive at the hospital.\u003c/p>\n\u003cp>When a patient comes in complaining of a sudden dizzy spell earlier in the day, for example, it might stem from a rapid heartbeat, or a sudden slowing. Or it might have nothing at all to do with the heart.\u003c/p>\n\u003cp>\"If your heart rate dropped extremely low, we're probably going to keep you in the hospital\" Sacchetti says. \"If it just went fast for a short period of time, we're probably going to just put a Holter monitor on you and send you home.\"\u003c/p>\n\u003cp>A fitness tracker that monitors the heart might help doctors more quickly figure out which treatment to use.\u003c/p>\n\u003cp>But \u003ca href=\"http://www.npr.org/sections/health-shots/2015/01/19/377486437/sure-you-can-track-your-health-data-but-can-your-doctor-use-it\">some other doctors are skeptical\u003c/a> of the medical usefulness of the gadgets.\u003c/p>\n\u003cp>\"This was interesting but not highly applicable and won't really change how we're going to do anything,\" says \u003ca href=\"https://www.stvincent.org/St-Vincent-Indianapolis/Healthcare-Services/Transplant/Heart-Transplant/Heart-Transplant-Team.aspx\">Dr. Mary Norine Walsh\u003c/a>, a cardiologist and director of the heart failure and cardiac transplantation programs at St. Vincent Medical Center, in Indianapolis.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\"There are no reliable studies showing whether fitness tracker data is accurate,\" Walsh says, and those studies would need to be done before physicians would use the devices widely.\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2016 NPR. To see more, visit http://www.npr.org/.\u003cimg src=\"http://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=A+Fitbit+Saved+His+Life%3F+Well%2C+Maybe&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\" alt=\"\">\u003c/div>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/143837/fitbit-used-in-er-to-determine-treatment-of-irregular-heartbeat","authors":["byline_futureofyou_143837"],"categories":["futureofyou_1060"],"tags":["futureofyou_704","futureofyou_49"],"featImg":"futureofyou_143838","label":"futureofyou"},"futureofyou_97649":{"type":"posts","id":"futureofyou_97649","meta":{"index":"posts_1591205157","site":"futureofyou","id":"97649","score":null,"sort":[1452802822000]},"guestAuthors":[],"slug":"predicting-health-risks-from-dna-still-a-way-off","title":"No, Your DNA Won't Predict Your Risk for Disease Anytime Soon","publishDate":1452802822,"format":"standard","headTitle":"Future of You | KQED Future of You | KQED Science","labelTerm":{"term":54,"site":"futureofyou"},"content":"\u003cp>In a \u003ca href=\"http://jama.jamanetwork.com/article.aspx?articleid=2480485\">new study\u003c/a>, scientists have shown just how hard it will be to one day use your DNA to predict your risk for illnesses.\u003c/p>\n\u003cp>As expected, it wasn’t the reading of the DNA that was the tricky part -- that gets cheaper and easier all the time.\u003c/p>\n\u003cp>Instead, the difficulty was figuring out which DNA differences mattered and which didn’t. Four groups of scientists couldn’t agree on which differences predicted an increased risk for an irregular heartbeat and which didn’t. And even the differences they compared didn’t turn out to predict much of anything.\u003c/p>\n\u003cp>Until scientists work this out, the dream of truly personalized medicine will remain a distant one.\u003c/p>\n\u003cp>\u003cstrong>Harder Than We Thought\u003c/strong>\u003c/p>\n\u003cfigure id=\"attachment_97653\" class=\"wp-caption aligncenter\" style=\"max-width: 750px\">\u003cimg class=\"size-full wp-image-97653\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/01/DoctorPatient01142016.jpg\" alt=\"It may be awhile before you are discussing with your doctor what your DNA tells you about your health risks. (NHGRI)\" width=\"750\" height=\"569\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/01/DoctorPatient01142016.jpg 750w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/DoctorPatient01142016-400x303.jpg 400w\" sizes=\"(max-width: 750px) 100vw, 750px\">\u003cfigcaption class=\"wp-caption-text\">It may be awhile before you are discussing with your doctor what your DNA tells you about your health risks. (\u003ca href=\"http://www.genome.gov/dmd/img.cfm?node=Photos/Graphics&id=85342\">NHGRI\u003c/a>)\u003c/figcaption>\u003c/figure>\n\u003cp>Listening to the news, you can be forgiven for thinking that sooner rather than later doctors will be able to predict most anything about your health from a look at your DNA.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>In fact, right now, they can’t tell you a whole lot.\u003c/p>\n\u003cp>Now this isn’t to say doctors can’t get some very important information from your DNA. There are definitely some differences (or “\u003ca href=\"https://en.wikipedia.org/wiki/Human_genetic_variation\">variants\u003c/a>”) that can be used to help \u003ca href=\"http://ghr.nlm.nih.gov/handbook/genomicresearch/pharmacogenomics\">determine just the right amount of medicine\u003c/a> you should be prescribed. And some real progress is being made in helping to find more targeted \u003ca href=\"http://cancergenome.nih.gov/cancergenomics/whatisgenomics/whatis\">treatments for a patient’s particular cancer\u003c/a>.\u003c/p>\n\u003cp>But the day when you can go to your doctor and she can correctly tell you only from your DNA which ailment you are at a higher risk for is a long way off. This becomes clear in a \u003ca href=\"http://jama.jamanetwork.com/article.aspx?articleid=2480485\">new study\u003c/a> in the Journal of the American Medical Association (JAMA).\u003c/p>\n\u003cp>In this study researchers couldn’t use DNA to reliably predict who, from a group of 2,202 patients, was at a higher risk for \u003ca href=\"http://www.heart.org/idc/groups/heart-public/@wcm/@hcm/documents/downloadable/ucm_300290.pdf\">arrhythmia\u003c/a>, an irregular heartbeat. This is surprising because the two genes they looked at are supposedly \u003ca href=\"http://www.ncbi.nlm.nih.gov/pubmed/23788249\">two out there that are better understood\u003c/a>.\u003c/p>\n\u003cp>If we can’t make good predictions on the few genes we understand really well, then odds are we will do even worse with the ones that are still more of a mystery. And these are the genes people will be most interested in, involved in heart disease, type 2 diabetes and so on.\u003c/p>\n\u003cp>This was a small study and it may be that with a larger group of patients, scientists will be able to make better predictions. But regardless it does give us an inkling of what we are up against in the upcoming genomics revolution.\u003c/p>\n\u003cp>It is going to be a hard slog. But in the end, the hope is that it will be worth it because it will make us all healthier.\u003c/p>\n\u003cp>\u003cstrong>The Pitfalls of Personalized Medicine\u003c/strong>\u003c/p>\n\u003cfigure id=\"attachment_97681\" class=\"wp-caption aligncenter\" style=\"max-width: 750px\">\u003cimg class=\"size-full wp-image-97681\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/01/CrowdDNA.jpg\" alt=\"Figuring out which DNA differences matter is a tricky business. (NHGRI)\" width=\"750\" height=\"664\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/01/CrowdDNA.jpg 750w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/CrowdDNA-400x354.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/CrowdDNA-678x600.jpg 678w\" sizes=\"(max-width: 750px) 100vw, 750px\">\u003cfigcaption class=\"wp-caption-text\">Figuring out which DNA differences matter is a tricky business. (\u003ca href=\"https://www.genome.gov/dmd/img.cfm?node=Photos/Graphics&id=86913\">NHGRI\u003c/a>)\u003c/figcaption>\u003c/figure>\n\u003cp>The key to predicting people’s health risks based on their DNA is knowing what to look for. This is even harder to do than you might think because everyone’s genetic make up is so unique.\u003c/p>\n\u003cp>The first step in finding disease-causing DNA differences is to gather up two groups of people and compare their DNA. One group will have the disease and the second, the control group, will not.\u003c/p>\n\u003cp>Any DNA differences more common in the disease group could be implicated in that disease. Lots of follow-up work is done until scientists are left with what they think are the really important variants.\u003c/p>\n\u003cp>Surprisingly, it often isn’t the variants themselves that are important for personalized medicine. Instead, it is the genes they affect that are the real prizes.\u003c/p>\n\u003cp>This is because many of the variants they find in the original study will be rare—not many people will have them. So just looking for them would not be that useful.\u003c/p>\n\u003cp>What they will look for are DNA differences in these genes that no one has seen before. Turns out that there are a lot of these.\u003c/p>\n\u003cp>The final step is to predict which of these other variants will be important for the disease. (These are called “\u003ca href=\"https://www.invitae.com/en/vus-resolution/\">variants of uncertain significance\u003c/a>” or VUS.) This is what this study could not do very well.\u003c/p>\n\u003cp>\u003cstrong>Genes and an Irregular Heartbeat\u003c/strong>\u003c/p>\n\u003cp>A number of previous studies have shown that certain DNA differences in two genes, SCN5A and KCNH2, increase a person’s risk for having an irregular heartbeat. These are the two genes the researchers focused on.\u003c/p>\n\u003cp>Not surprisingly, the researchers didn’t find these DNA variants in any of the 2,202 patients they looked at. Remember these kinds of variants are usually pretty rare.\u003c/p>\n\u003cp>But they did find lots of other differences. They were prepared for this and had lined up four different groups to help them predict which variants might increase a patient’s risk for arrhythmia.\u003c/p>\n\u003cp>They came up with 42 DNA variants in 63 patients that looked like they fit the bill. Unfortunately, none of these DNA differences predicted anything about a patient’s risk for arrhythmia. There was no significant difference in cases of arrhythmia between the group that had these variants and the group that didn’t.\u003c/p>\n\u003cp>In some ways this wasn’t surprising. After all, 63 people is a pretty small group.\u003c/p>\n\u003cp>What is more troubling for personalized medicine is that the four groups making the predictions agreed on very few of the 42 variants. Making accurate predictions is an incredibly important step, and it failed in this study.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>To get to a future where genetics can help the maximum number of people, we are going to need to be able to use a patient’s DNA to figure out his or her health risks. We’ll get there, but it may take longer than we thought.\u003c/p>\n\n","blocks":[],"excerpt":"A new study shows just how hard it will be to predict people's health risks from their DNA.","status":"publish","parent":0,"modified":1477272177,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":31,"wordCount":1012},"headData":{"title":"No, Your DNA Won't Predict Your Risk for Disease Anytime Soon | KQED","description":"A new study shows just how hard it will be to predict people's health risks from their DNA.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"No, Your DNA Won't Predict Your Risk for Disease Anytime Soon","datePublished":"2016-01-14T20:20:22.000Z","dateModified":"2016-10-24T01:22:57.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"97649 http://ww2.kqed.org/futureofyou/?p=97649","disqusUrl":"https://ww2.kqed.org/futureofyou/2016/01/14/predicting-health-risks-from-dna-still-a-way-off/","disqusTitle":"No, Your DNA Won't Predict Your Risk for Disease Anytime Soon","path":"/futureofyou/97649/predicting-health-risks-from-dna-still-a-way-off","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>In a \u003ca href=\"http://jama.jamanetwork.com/article.aspx?articleid=2480485\">new study\u003c/a>, scientists have shown just how hard it will be to one day use your DNA to predict your risk for illnesses.\u003c/p>\n\u003cp>As expected, it wasn’t the reading of the DNA that was the tricky part -- that gets cheaper and easier all the time.\u003c/p>\n\u003cp>Instead, the difficulty was figuring out which DNA differences mattered and which didn’t. Four groups of scientists couldn’t agree on which differences predicted an increased risk for an irregular heartbeat and which didn’t. And even the differences they compared didn’t turn out to predict much of anything.\u003c/p>\n\u003cp>Until scientists work this out, the dream of truly personalized medicine will remain a distant one.\u003c/p>\n\u003cp>\u003cstrong>Harder Than We Thought\u003c/strong>\u003c/p>\n\u003cfigure id=\"attachment_97653\" class=\"wp-caption aligncenter\" style=\"max-width: 750px\">\u003cimg class=\"size-full wp-image-97653\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/01/DoctorPatient01142016.jpg\" alt=\"It may be awhile before you are discussing with your doctor what your DNA tells you about your health risks. (NHGRI)\" width=\"750\" height=\"569\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/01/DoctorPatient01142016.jpg 750w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/DoctorPatient01142016-400x303.jpg 400w\" sizes=\"(max-width: 750px) 100vw, 750px\">\u003cfigcaption class=\"wp-caption-text\">It may be awhile before you are discussing with your doctor what your DNA tells you about your health risks. (\u003ca href=\"http://www.genome.gov/dmd/img.cfm?node=Photos/Graphics&id=85342\">NHGRI\u003c/a>)\u003c/figcaption>\u003c/figure>\n\u003cp>Listening to the news, you can be forgiven for thinking that sooner rather than later doctors will be able to predict most anything about your health from a look at your DNA.\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>In fact, right now, they can’t tell you a whole lot.\u003c/p>\n\u003cp>Now this isn’t to say doctors can’t get some very important information from your DNA. There are definitely some differences (or “\u003ca href=\"https://en.wikipedia.org/wiki/Human_genetic_variation\">variants\u003c/a>”) that can be used to help \u003ca href=\"http://ghr.nlm.nih.gov/handbook/genomicresearch/pharmacogenomics\">determine just the right amount of medicine\u003c/a> you should be prescribed. And some real progress is being made in helping to find more targeted \u003ca href=\"http://cancergenome.nih.gov/cancergenomics/whatisgenomics/whatis\">treatments for a patient’s particular cancer\u003c/a>.\u003c/p>\n\u003cp>But the day when you can go to your doctor and she can correctly tell you only from your DNA which ailment you are at a higher risk for is a long way off. This becomes clear in a \u003ca href=\"http://jama.jamanetwork.com/article.aspx?articleid=2480485\">new study\u003c/a> in the Journal of the American Medical Association (JAMA).\u003c/p>\n\u003cp>In this study researchers couldn’t use DNA to reliably predict who, from a group of 2,202 patients, was at a higher risk for \u003ca href=\"http://www.heart.org/idc/groups/heart-public/@wcm/@hcm/documents/downloadable/ucm_300290.pdf\">arrhythmia\u003c/a>, an irregular heartbeat. This is surprising because the two genes they looked at are supposedly \u003ca href=\"http://www.ncbi.nlm.nih.gov/pubmed/23788249\">two out there that are better understood\u003c/a>.\u003c/p>\n\u003cp>If we can’t make good predictions on the few genes we understand really well, then odds are we will do even worse with the ones that are still more of a mystery. And these are the genes people will be most interested in, involved in heart disease, type 2 diabetes and so on.\u003c/p>\n\u003cp>This was a small study and it may be that with a larger group of patients, scientists will be able to make better predictions. But regardless it does give us an inkling of what we are up against in the upcoming genomics revolution.\u003c/p>\n\u003cp>It is going to be a hard slog. But in the end, the hope is that it will be worth it because it will make us all healthier.\u003c/p>\n\u003cp>\u003cstrong>The Pitfalls of Personalized Medicine\u003c/strong>\u003c/p>\n\u003cfigure id=\"attachment_97681\" class=\"wp-caption aligncenter\" style=\"max-width: 750px\">\u003cimg class=\"size-full wp-image-97681\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/01/CrowdDNA.jpg\" alt=\"Figuring out which DNA differences matter is a tricky business. (NHGRI)\" width=\"750\" height=\"664\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/01/CrowdDNA.jpg 750w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/CrowdDNA-400x354.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/CrowdDNA-678x600.jpg 678w\" sizes=\"(max-width: 750px) 100vw, 750px\">\u003cfigcaption class=\"wp-caption-text\">Figuring out which DNA differences matter is a tricky business. (\u003ca href=\"https://www.genome.gov/dmd/img.cfm?node=Photos/Graphics&id=86913\">NHGRI\u003c/a>)\u003c/figcaption>\u003c/figure>\n\u003cp>The key to predicting people’s health risks based on their DNA is knowing what to look for. This is even harder to do than you might think because everyone’s genetic make up is so unique.\u003c/p>\n\u003cp>The first step in finding disease-causing DNA differences is to gather up two groups of people and compare their DNA. One group will have the disease and the second, the control group, will not.\u003c/p>\n\u003cp>Any DNA differences more common in the disease group could be implicated in that disease. Lots of follow-up work is done until scientists are left with what they think are the really important variants.\u003c/p>\n\u003cp>Surprisingly, it often isn’t the variants themselves that are important for personalized medicine. Instead, it is the genes they affect that are the real prizes.\u003c/p>\n\u003cp>This is because many of the variants they find in the original study will be rare—not many people will have them. So just looking for them would not be that useful.\u003c/p>\n\u003cp>What they will look for are DNA differences in these genes that no one has seen before. Turns out that there are a lot of these.\u003c/p>\n\u003cp>The final step is to predict which of these other variants will be important for the disease. (These are called “\u003ca href=\"https://www.invitae.com/en/vus-resolution/\">variants of uncertain significance\u003c/a>” or VUS.) This is what this study could not do very well.\u003c/p>\n\u003cp>\u003cstrong>Genes and an Irregular Heartbeat\u003c/strong>\u003c/p>\n\u003cp>A number of previous studies have shown that certain DNA differences in two genes, SCN5A and KCNH2, increase a person’s risk for having an irregular heartbeat. These are the two genes the researchers focused on.\u003c/p>\n\u003cp>Not surprisingly, the researchers didn’t find these DNA variants in any of the 2,202 patients they looked at. Remember these kinds of variants are usually pretty rare.\u003c/p>\n\u003cp>But they did find lots of other differences. They were prepared for this and had lined up four different groups to help them predict which variants might increase a patient’s risk for arrhythmia.\u003c/p>\n\u003cp>They came up with 42 DNA variants in 63 patients that looked like they fit the bill. Unfortunately, none of these DNA differences predicted anything about a patient’s risk for arrhythmia. There was no significant difference in cases of arrhythmia between the group that had these variants and the group that didn’t.\u003c/p>\n\u003cp>In some ways this wasn’t surprising. After all, 63 people is a pretty small group.\u003c/p>\n\u003cp>What is more troubling for personalized medicine is that the four groups making the predictions agreed on very few of the 42 variants. Making accurate predictions is an incredibly important step, and it failed in this study.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>To get to a future where genetics can help the maximum number of people, we are going to need to be able to use a patient’s DNA to figure out his or her health risks. We’ll get there, but it may take longer than we thought.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/97649/predicting-health-risks-from-dna-still-a-way-off","authors":["6177"],"programs":["futureofyou_54"],"categories":["futureofyou_1062","futureofyou_1064"],"tags":["futureofyou_704","futureofyou_705","futureofyou_80","futureofyou_209","futureofyou_706"],"featImg":"futureofyou_97651","label":"futureofyou_54"}},"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. 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Michel Martin hosts on the weekends.","airtime":"MON-FRI 1pm-2pm, 4:30pm-6:30pm\u003cbr />SAT-SUN 5pm-6pm","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/All-Things-Considered-Podcast-Tile-360x360-1.jpg","officialWebsiteLink":"https://www.npr.org/programs/all-things-considered/","meta":{"site":"news","source":"npr"},"link":"/radio/program/all-things-considered"},"american-suburb-podcast":{"id":"american-suburb-podcast","title":"American Suburb: The Podcast","tagline":"The flip side of gentrification, told through one town","info":"Gentrification is changing cities across America, forcing people from neighborhoods they have long called home. Call them the displaced. Now those priced out of the Bay Area are looking for a better life in an unlikely place. American Suburb follows this migration to one California town along the Delta, 45 miles from San Francisco. But is this once sleepy suburb ready for them?","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/American-Suburb-Podcast-Tile-703x703-1.jpg","officialWebsiteLink":"/news/series/american-suburb-podcast","meta":{"site":"news","source":"kqed","order":"13"},"link":"/news/series/american-suburb-podcast/","subscribe":{"npr":"https://rpb3r.app.goo.gl/RBrW","apple":"https://itunes.apple.com/WebObjects/MZStore.woa/wa/viewPodcast?mt=2&id=1287748328","tuneIn":"https://tunein.com/radio/American-Suburb-p1086805/","rss":"https://ww2.kqed.org/news/series/american-suburb-podcast/feed/podcast","google":"https://podcasts.google.com/feed/aHR0cHM6Ly9mZWVkcy5tZWdhcGhvbmUuZm0vS1FJTkMzMDExODgxNjA5"}},"baycurious":{"id":"baycurious","title":"Bay Curious","tagline":"Exploring the Bay Area, one question at a time","info":"KQED’s new podcast, Bay Curious, gets to the bottom of the mysteries — both profound and peculiar — that give the Bay Area its unique identity. And we’ll do it with your help! You ask the questions. You decide what Bay Curious investigates. And you join us on the journey to find the answers.","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Bay-Curious-Podcast-Tile-703x703-1.jpg","imageAlt":"\"KQED Bay Curious","officialWebsiteLink":"/news/series/baycurious","meta":{"site":"news","source":"kqed","order":"4"},"link":"/podcasts/baycurious","subscribe":{"apple":"https://podcasts.apple.com/us/podcast/bay-curious/id1172473406","npr":"https://www.npr.org/podcasts/500557090/bay-curious","rss":"https://ww2.kqed.org/news/category/bay-curious-podcast/feed/podcast","google":"https://podcasts.google.com/feed/aHR0cHM6Ly93dzIua3FlZC5vcmcvbmV3cy9jYXRlZ29yeS9iYXktY3VyaW91cy1wb2RjYXN0L2ZlZWQvcG9kY2FzdA","stitcher":"https://www.stitcher.com/podcast/kqed/bay-curious","spotify":"https://open.spotify.com/show/6O76IdmhixfijmhTZLIJ8k"}},"bbc-world-service":{"id":"bbc-world-service","title":"BBC World Service","info":"The day's top stories from BBC News compiled twice daily in the week, once at weekends.","airtime":"MON-FRI 9pm-10pm, TUE-FRI 1am-2am","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/BBC-World-Service-Podcast-Tile-360x360-1.jpg","officialWebsiteLink":"https://www.bbc.co.uk/sounds/play/live:bbc_world_service","meta":{"site":"news","source":"BBC World Service"},"link":"/radio/program/bbc-world-service","subscribe":{"apple":"https://itunes.apple.com/us/podcast/global-news-podcast/id135067274?mt=2","tuneIn":"https://tunein.com/radio/BBC-World-Service-p455581/","rss":"https://podcasts.files.bbci.co.uk/p02nq0gn.rss"}},"code-switch-life-kit":{"id":"code-switch-life-kit","title":"Code Switch / Life Kit","info":"\u003cem>Code Switch\u003c/em>, which listeners will hear in the first part of the hour, has fearless and much-needed conversations about race. 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. Because everyone needs a little help being human.\u003cbr />\u003cbr />\u003ca href=\"https://www.npr.org/podcasts/510312/codeswitch\">\u003cem>Code Switch\u003c/em> offical site and podcast\u003c/a>\u003cbr />\u003ca href=\"https://www.npr.org/lifekit\">\u003cem>Life Kit\u003c/em> offical site and podcast\u003c/a>\u003cbr />","airtime":"SUN 9pm-10pm","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Code-Switch-Life-Kit-Podcast-Tile-360x360-1.jpg","meta":{"site":"radio","source":"npr"},"link":"/radio/program/code-switch-life-kit","subscribe":{"apple":"https://podcasts.apple.com/podcast/1112190608?mt=2&at=11l79Y&ct=nprdirectory","google":"https://podcasts.google.com/feed/aHR0cHM6Ly93d3cubnByLm9yZy9yc3MvcG9kY2FzdC5waHA_aWQ9NTEwMzEy","spotify":"https://open.spotify.com/show/3bExJ9JQpkwNhoHvaIIuyV","rss":"https://feeds.npr.org/510312/podcast.xml"}},"commonwealth-club":{"id":"commonwealth-club","title":"Commonwealth Club of California Podcast","info":"The Commonwealth Club of California is the nation's oldest and largest public affairs forum. As a non-partisan forum, The Club brings to the public airwaves diverse viewpoints on important topics. The Club's weekly radio broadcast - the oldest in the U.S., dating back to 1924 - is carried across the nation on public radio stations and is now podcasting. Our website archive features audio of our recent programs, as well as selected speeches from our long and distinguished history. This podcast feed is usually updated twice a week and is always un-edited.","airtime":"THU 10pm, FRI 1am","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Commonwealth-Club-Podcast-Tile-360x360-1.jpg","officialWebsiteLink":"https://www.commonwealthclub.org/podcasts","meta":{"site":"news","source":"Commonwealth Club of California"},"link":"/radio/program/commonwealth-club","subscribe":{"apple":"https://itunes.apple.com/us/podcast/commonwealth-club-of-california-podcast/id976334034?mt=2","google":"https://podcasts.google.com/feed/aHR0cDovL3d3dy5jb21tb253ZWFsdGhjbHViLm9yZy9hdWRpby9wb2RjYXN0L3dlZWtseS54bWw","tuneIn":"https://tunein.com/radio/Commonwealth-Club-of-California-p1060/"}},"considerthis":{"id":"considerthis","title":"Consider This","tagline":"Make sense of the day","info":"Make sense of the day. Every weekday afternoon, Consider This helps you consider the major stories of the day in less than 15 minutes, featuring the reporting and storytelling resources of NPR. Plus, KQED’s Bianca Taylor brings you the local KQED news you need to know.","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Consider-This-Podcast-Tile-703x703-1.jpg","imageAlt":"Consider This from NPR and KQED","officialWebsiteLink":"/podcasts/considerthis","meta":{"site":"news","source":"kqed","order":"7"},"link":"/podcasts/considerthis","subscribe":{"apple":"https://podcasts.apple.com/podcast/id1503226625?mt=2&at=11l79Y&ct=nprdirectory","npr":"https://rpb3r.app.goo.gl/coronavirusdaily","google":"https://podcasts.google.com/feed/aHR0cHM6Ly9mZWVkcy5ucHIub3JnLzUxMDM1NS9wb2RjYXN0LnhtbA","spotify":"https://open.spotify.com/show/3Z6JdCS2d0eFEpXHKI6WqH"}},"forum":{"id":"forum","title":"Forum","tagline":"The conversation starts here","info":"KQED’s live call-in program discussing local, state, national and international issues, as well as in-depth interviews.","airtime":"MON-FRI 9am-11am, 10pm-11pm","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Forum-Podcast-Tile-703x703-1.jpg","imageAlt":"KQED Forum with Mina Kim and Alexis Madrigal","officialWebsiteLink":"/forum","meta":{"site":"news","source":"kqed","order":"8"},"link":"/forum","subscribe":{"apple":"https://podcasts.apple.com/us/podcast/kqeds-forum/id73329719","google":"https://podcasts.google.com/feed/aHR0cHM6Ly9mZWVkcy5tZWdhcGhvbmUuZm0vS1FJTkM5NTU3MzgxNjMz","npr":"https://www.npr.org/podcasts/432307980/forum","stitcher":"https://www.stitcher.com/podcast/kqedfm-kqeds-forum-podcast","rss":"https://feeds.megaphone.fm/KQINC9557381633"}},"freakonomics-radio":{"id":"freakonomics-radio","title":"Freakonomics Radio","info":"Freakonomics Radio is a one-hour award-winning podcast and public-radio project hosted by Stephen Dubner, with co-author Steve Levitt as a regular guest. 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Updated Monday through Friday at about 3:30 p.m. PT.","airtime":"MON-FRI 4pm-4:30pm, MON-WED 6:30pm-7pm","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Marketplace-Podcast-Tile-360x360-1.jpg","officialWebsiteLink":"https://www.marketplace.org/","meta":{"site":"news","source":"American Public Media"},"link":"/radio/program/marketplace","subscribe":{"apple":"https://itunes.apple.com/WebObjects/MZStore.woa/wa/viewPodcast?s=143441&mt=2&id=201853034&at=11l79Y&ct=nprdirectory","tuneIn":"https://tunein.com/radio/APM-Marketplace-p88/","rss":"https://feeds.publicradio.org/public_feeds/marketplace-pm/rss/rss"}},"mindshift":{"id":"mindshift","title":"MindShift","tagline":"A podcast about the future of learning and how we raise our kids","info":"The MindShift podcast explores the innovations in education that are shaping how kids learn. Hosts Ki Sung and Katrina Schwartz introduce listeners to educators, researchers, parents and students who are developing effective ways to improve how kids learn. We cover topics like how fed-up administrators are developing surprising tactics to deal with classroom disruptions; how listening to podcasts are helping kids develop reading skills; the consequences of overparenting; and why interdisciplinary learning can engage students on all ends of the traditional achievement spectrum. This podcast is part of the MindShift education site, a division of KQED News. KQED is an NPR/PBS member station based in San Francisco. 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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