Free DNA Kits at S.F. 49ers Games Attract Skeptics -- and Regulators
As Human Gene-Editing Advances, Doudna Says Ethical Discussions Can't Wait
Stirrings of Hope for Families Isolated by Rarest of Genetic Conditions
FDA Tells 23andMe to Halt Sales of Gene-Testing Service
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She is a certified teacher of Soul Motion®, a conscious dance practice, and can sometimes be found in the Mojave desert or the Eastern Sierra.","avatar":"https://secure.gravatar.com/avatar/fa6bf8a74a2692973a5484e64ebd2b52?s=600&d=blank&r=g","twitter":"cosmologicalkat","facebook":null,"instagram":null,"linkedin":null,"sites":[{"site":"arts","roles":["contributor"]},{"site":"news","roles":["editor"]},{"site":"futureofyou","roles":["editor"]},{"site":"science","roles":["editor"]}],"headData":{"title":"Katrin Snow | KQED","description":"Senior Editor","ogImgSrc":"https://secure.gravatar.com/avatar/fa6bf8a74a2692973a5484e64ebd2b52?s=600&d=blank&r=g","twImgSrc":"https://secure.gravatar.com/avatar/fa6bf8a74a2692973a5484e64ebd2b52?s=600&d=blank&r=g"},"isLoading":false,"link":"/author/katsnow"},"dventon":{"type":"authors","id":"11088","meta":{"index":"authors_1591205172","id":"11088","found":true},"name":"Danielle Venton","firstName":"Danielle","lastName":"Venton","slug":"dventon","email":"dventon@kqed.org","display_author_email":true,"staff_mastheads":["science"],"title":"Science reporter","bio":"Danielle Venton is a reporter for KQED Science. She covers wildfires, space and oceans (though she is prone to sea sickness).\r\n\r\nBefore joining KQED in 2015, Danielle was a staff reporter at KRCB in Sonoma County and a freelancer. She studied science communication at UC Santa Cruz and formerly worked at CERN in Geneva, Switzerland where she wrote about computing. She lives in Sonoma County and enjoys backpacking.","avatar":"https://secure.gravatar.com/avatar/ebaf11ee6cfb7bb40329a143d463829e?s=600&d=blank&r=g","twitter":"DanielleVenton","facebook":null,"instagram":null,"linkedin":null,"sites":[{"site":"arts","roles":["contributor"]},{"site":"news","roles":["editor"]},{"site":"futureofyou","roles":["editor"]},{"site":"science","roles":["editor"]}],"headData":{"title":"Danielle Venton | KQED","description":"Science reporter","ogImgSrc":"https://secure.gravatar.com/avatar/ebaf11ee6cfb7bb40329a143d463829e?s=600&d=blank&r=g","twImgSrc":"https://secure.gravatar.com/avatar/ebaf11ee6cfb7bb40329a143d463829e?s=600&d=blank&r=g"},"isLoading":false,"link":"/author/dventon"}},"breakingNewsReducer":{},"campaignFinanceReducer":{},"firebase":{"requesting":{},"requested":{},"timestamps":{},"data":{},"ordered":{},"auth":{"isLoaded":false,"isEmpty":true},"authError":null,"profile":{"isLoaded":false,"isEmpty":true},"listeners":{"byId":{},"allIds":[]},"isInitializing":false,"errors":[]},"navBarReducer":{"navBarId":"news","fullView":true,"showPlayer":false},"navMenuReducer":{"menus":[{"key":"menu1","items":[{"name":"News","link":"/","type":"title"},{"name":"Politics","link":"/politics"},{"name":"Science","link":"/science"},{"name":"Education","link":"/educationnews"},{"name":"Housing","link":"/housing"},{"name":"Immigration","link":"/immigration"},{"name":"Criminal Justice","link":"/criminaljustice"},{"name":"Silicon Valley","link":"/siliconvalley"},{"name":"Forum","link":"/forum"},{"name":"The California Report","link":"/californiareport"}]},{"key":"menu2","items":[{"name":"Arts & Culture","link":"/arts","type":"title"},{"name":"Critics’ Picks","link":"/thedolist"},{"name":"Cultural Commentary","link":"/artscommentary"},{"name":"Food & Drink","link":"/food"},{"name":"Bay Area Hip-Hop","link":"/bayareahiphop"},{"name":"Rebel Girls","link":"/rebelgirls"},{"name":"Arts Video","link":"/artsvideos"}]},{"key":"menu3","items":[{"name":"Podcasts","link":"/podcasts","type":"title"},{"name":"Bay Curious","link":"/podcasts/baycurious"},{"name":"Rightnowish","link":"/podcasts/rightnowish"},{"name":"The Bay","link":"/podcasts/thebay"},{"name":"On Our Watch","link":"/podcasts/onourwatch"},{"name":"Mindshift","link":"/podcasts/mindshift"},{"name":"Consider This","link":"/podcasts/considerthis"},{"name":"Political Breakdown","link":"/podcasts/politicalbreakdown"}]},{"key":"menu4","items":[{"name":"Live Radio","link":"/radio","type":"title"},{"name":"TV","link":"/tv","type":"title"},{"name":"Events","link":"/events","type":"title"},{"name":"For Educators","link":"/education","type":"title"},{"name":"Support KQED","link":"/support","type":"title"},{"name":"About","link":"/about","type":"title"},{"name":"Help Center","link":"https://kqed-helpcenter.kqed.org/s","type":"title"}]}]},"pagesReducer":{},"postsReducer":{"stream_live":{"type":"live","id":"stream_live","audioUrl":"https://streams.kqed.org/kqedradio","title":"Live Stream","excerpt":"Live Stream information currently unavailable.","link":"/radio","featImg":"","label":{"name":"KQED Live","link":"/"}},"stream_kqedNewscast":{"type":"posts","id":"stream_kqedNewscast","audioUrl":"https://www.kqed.org/.stream/anon/radio/RDnews/newscast.mp3?_=1","title":"KQED Newscast","featImg":"","label":{"name":"88.5 FM","link":"/"}},"futureofyou_436928":{"type":"posts","id":"futureofyou_436928","meta":{"index":"posts_1591205157","site":"futureofyou","id":"436928","score":null,"sort":[1510252699000]},"guestAuthors":[],"slug":"free-dna-kits-at-s-f-49ers-games-attract-skeptics-and-regulators","title":"Free DNA Kits at S.F. 49ers Games Attract Skeptics -- and Regulators","publishDate":1510252699,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>Depending on whom you ask, finding out whether your genes make you a better athlete or give you healthier skin may be as easy as swabbing your cheeks for a DNA test on your way into a football game. But others say these \"wellness\" tests marketed directly to consumers are modern snake oil — worthless, or even misleading.\u003c/p>\n\u003cp>On Monday, the Food and Drug Administration gave a boost to direct-to-consumer genetic testing when it announced plans to streamline its approval process.\u003c/p>\n\u003caside class=\"pullquote alignright\">'Giving out DNA kits at a football game screams out for regulation.'\u003ccite>Peter Pitts, Center for Medicine in the Public Interest\u003c/cite>\u003c/aside>\n\u003cp>\"These tests can prompt consumers to be more engaged in pursuing the benefits of healthy lifestyle choices and more aware of their health risks,\" FDA Commissioner Scott Gottlieb said in a \u003ca href=\"https://www.prnewswire.com/news-releases/statement-from-fda-commissioner-scott-gottlieb-md-on-implementation-of-agencys-streamlined-development-and-review-pathway-for-consumer-tests-that-evaluate-genetic-health-risks-300549992.html\" target=\"_blank\" rel=\"noopener\">statement\u003c/a>. However, he continued, \"They're not without their own risks — especially if they provide consumers with incorrect or misleading information that may be used to make health choices without considering the advice of a medical professional.\"\u003c/p>\n\u003cp>The FDA intends to let sellers of direct-to-consumer DNA test kits seek a one-time FDA review, which would allow subsequent tests to be sold without going first to the FDA for approval. Under present rules, each new health test must be submitted and reviewed. The FDA's jurisdiction applies to tests used to assess or diagnose health.\u003c/p>\n\u003cp>But a company in Boston is finding out that mass marketing of DNA tests attracts not just customers and fans, but skeptics and regulators. \u003ca href=\"http://orig3n.com/\" target=\"_blank\" rel=\"noopener\">Orig3n\u003c/a>, which sells genetic test kits with catchy names like \"Fitcode,\" \"Fuel\" and \"Bliss\" at festivals and sporting events, now finds itself under scrutiny by state and federal officials.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>\"The California Department of Public Health is investigating the nature and distribution of these test kits by Orig3n at Levi's Stadium in Santa Clara,\" a department representative said in an email.\u003c/p>\n\u003cp>At every 49ers home game during the current season, the company has a booth where it offers free introductory DNA test kits to the 68,000 fans entering the stadium. Fans can also purchase other tests at prices ranging from $29 to $149 each. It has a similar relationship with the Baltimore Ravens, but a plan to give test kits to every fan entering a September game was called off after Maryland regulators had some questions.\u003c/p>\n\u003cp>\"I want people to learn more about themselves, and what they choose to do with that information is really up to them,\" says Orig3n co-founder and chief operating officer Kate Blanchard. \"But some of the information can really impact the way they live their life.\"\u003c/p>\n\u003cp>That is precisely the problem, and it's why state and federal regulators have said that \"information\" tests like Orig3n's should be regulated as medical tests, because they're assessing a person's health. It's a complex question, as the FDA's Gottlieb notes. \"Consider the consequences of a person who is told they're not at risk for coronary heart disease and incorrectly opts to forgo dietary changes or drugs that reduce their risk of heart attack and death,\" he says.\u003c/p>\n\u003cp>As much as genetic science has advanced, scientists do not fully understand how the more than 50 million known genetic variations interact with each other or with lifestyle and other factors to affect someone's health, wellness or behavior. Very few genes are as closely associated with a specific outcome as the breast cancer genes BRCA1 and BRCA2, and even a positive test for these cancer-associated genes is insufficient for doctors to advise patients to have surgery or other major treatments.\u003c/p>\n\u003cp>In other words, you can get a test that tells you what variations you have, but that test alone cannot predict your future or dictate specific health or lifestyle decisions. Skeptics worry that people will read too much into genetic test results, especially if they are done without the help of a medical professional.\u003c/p>\n\u003cp>Blanchard says she stepped up her personal training regimen after her DNA test indicated that she might perform well in endurance sports. She says it was a change she might not have made without this information.\u003c/p>\n\u003cp>Distributing DNA tests to tens of thousands of people at NFL football games \"is not good clinical practice,\" says Peter Pitts, president of the advocacy group \u003ca href=\"http://cmpi.org/\">Center for Medicine in the Public Interest\u003c/a>. Unlike tests done in clinical laboratories, like tests for diabetes or cholesterol, there is less control over the quality of the test process, so the resulting data may be \"highly questionable,\" says Pitts, who is a former associate commissioner of the Food and Drug Administration.\u003c/p>\n\u003cp>Now you can get a nutrition plan and ready-to-eat meals based on \"your body's unique make-up\" from Campbell's Soup-funded \u003ca href=\"http://habit.com/\">Habit\u003c/a>. \u003ca href=\"http://ancestry.com/\">Ancestry\u003c/a> sells a test that \"tells a more complete story of you,\" and \u003ca href=\"https://www.helix.com/shop/\">Helix\u003c/a> promotes more than a dozen of its partners who sell genetic tests ranging from National Geographic (your ancestor's migration paths) to companies that offer targeted fitness routines based on the DNA results, and several health companies. There is even a \u003ca href=\"https://www.helix.com/shop/vinome-wine-explorer/\">wine club\u003c/a> with wines \"scientifically selected based on your DNA.\"\u003c/p>\n\u003cp>\"We don't begrudge the excitement and the desire to help people based on genetics,\" says Shirley Wu, director of product science for 23andMe, a direct-to-consumer genetic testing company that started in 2006. However, she questions companies that may be overpromising on what the tests can tell you. The science behind some consumer-oriented tests is lacking, says Wu. \"We are still at the beginning of our understanding.\"\u003c/p>\n\u003cp>The FDA \u003ca href=\"https://www.npr.org/sections/health-shots/2013/12/06/249231236/23andme-bows-to-fdas-demands-drops-health-claims\">halted 23andMe's sales\u003c/a> of medical-risk tests in 2013, saying that it couldn't prove those tests were accurate. In April, 23andMe obtained federal \u003ca href=\"https://www.fda.gov/newsevents/newsroom/pressannouncements/ucm551185.htm\">clearance\u003c/a> to resume selling direct-to-consumer DNA tests for certain health risks. Now, consumers can get reports on their ancestry as well as genes associated with sleep quality, lactose sensitivity, weight and other wellness factors and risks for several dozen inherited conditions for about $200.\u003c/p>\n\u003cp>And companies can offer very different information on the same finding. That's evident in two reports on the CC variant of the ACTN3 gene:\u003c/p>\n\u003cul>\n\u003cli>23andMe tells you that you have a trait \"common among elite power athletes ... but its role for non-elite athletes isn't completely understood.\" The report also says that lifestyle and training are the driver of athletic performance for most people.\u003c/li>\n\u003cli>Orig3n also tells you that this trait is common in elite athletes and \"is found in 45 percent of the general population.\" And it \"contributes to your ability to perform better in sports requiring power such as sprinting.\" The Orig3n report recommends the types of sports that someone with this biomarker might want to pursue.\u003c/li>\n\u003c/ul>\n\u003cp>A \u003ca href=\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278350/\">2015 review\u003c/a> of genetic testing for sports concluded that there is little value to knowing the ACTN3 or other variants in recreational athletes. However, genetic testing of professional athletes may be useful for training and injury prevention, the review authors concluded.\u003c/p>\n\u003cp>\"For the most part, data on personal genomic testing have revealed little or no harms but also little or no health benefits,\" writes Dr. Muin Khoury, director of the Office of Public Health Genomics at the Centers for Disease Control and Prevention in a \u003ca href=\"https://blogs.cdc.gov/genomics/2017/04/18/direct-to-consumer-2/\">recent article\u003c/a>. \"Also, evidence on the ability of genetic information to change health behavior has been lacking.\"\u003c/p>\n\u003cp>Blanchard says that Orig3n got the idea for its fitness DNA test after it solicited blood samples for research at marathons and other sporting events. \"People started asking, 'What can you tell me about me?' \" she says.\u003c/p>\n\u003cp>The business model for 23andMe, Helix and some of the other direct-to-consumer DNA testing companies doesn't rely solely on sales of test kits. They want to aggregate massive amounts of human genetic data that can be mined for research and commercial uses. Consumers are asked to \"opt-in\" to this when getting tested — and most do, according to 23andMe.\u003c/p>\n\u003cp>Orig3n is an exception: It says it would contact people separately if it ever wanted to use the DNA for anything other than the person's own tests. But those test kits create a pool of people who would be more likely to give blood samples for Orig3n's stem cell research. Its business banks on amassing tens of thousands of human blood samples so that it can create many stem cell lines.\u003c/p>\n\u003cp>Orig3n has sponsorship arrangements with the Baltimore Ravens and the San Francisco 49ers football teams. Fans at home games can get a free test that reports on three genes — ACTN3 for muscle force, FOXP2 for language-learning ability and AGER for skin aging. For $149, Orig3n reports back on 27 genes related to strength, metabolism, endurance and power. The company's other tests are to provide information about genes associated with skin, child development, and how you think, feel and react.\u003c/p>\n\u003cp>Orig3n says its tests are \"not diagnostic\" and \"for informational purposes only.\" The federal agency that oversees medical labs disagrees. That distinction is critical because it is the boundary between regulated medical services and ones that avoid that level of scrutiny.\u003c/p>\n\u003cp>After reviewing Orig3n's materials, the Centers for Medicare and Medicaid Services told the company on Oct. 30 that it must follow the rules for medical laboratories because its services include \"genetic testing for the assessment of health.\"\u003c/p>\n\u003cp>The decision was based on 18 of the 140 genes included in Orig3n's tests, according to a \u003ca href=\"https://www.documentcloud.org/documents/4176983-CMS-Letter.html\">letter\u003c/a> from CMS to Orig3n.\u003c/p>\n\u003cp>Orig3n's Blanchard says the company will continue selling its tests without those 18 genes until Orig3n receives approval from regulators to resume. In addition to CMS, Orig3n must satisfy state regulators in Massachusetts, Maryland and California – or any other states where it operates. \"Going forward, we will continue to work with CMS, California, Massachusetts and the other states to ensure that we are meeting all federal and state regulatory requirements regarding our products,\" Blanchard said in an email.\u003c/p>\n\u003cp>That may not be enough to satisfy all the critics. Says Pitts: \"Giving out DNA kits at a football game screams out for regulation.\"\u003c/p>\n\u003chr>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>\u003cem>Doug Levy is a freelance writer based in Sausalito, Calif. \u003c/em>\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2017 NPR. To see more, visit http://www.npr.org/.\u003cimg src=\"https://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=You+Can+Get+Your+DNA+Tested+At+An+NFL+Game.+Should+You%3F+&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\">\u003c/div>\n\n","blocks":[],"excerpt":"Companies distributing genetic tests at pro sports events say they can help people make the most of exercise and nutrition. But regulators say some are medical tests that could land people in trouble.","status":"publish","parent":0,"modified":1510254186,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":31,"wordCount":1718},"headData":{"title":"Free DNA Kits at S.F. 49ers Games Attract Skeptics -- and Regulators | KQED","description":"Companies distributing genetic tests at pro sports events say they can help people make the most of exercise and nutrition. But regulators say some are medical tests that could land people in trouble.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"436928 https://ww2.kqed.org/futureofyou/?p=436928","disqusUrl":"https://ww2.kqed.org/futureofyou/2017/11/09/free-dna-kits-at-s-f-49ers-games-attract-skeptics-and-regulators/","disqusTitle":"Free DNA Kits at S.F. 49ers Games Attract Skeptics -- and Regulators","source":"KQED Future of You","nprByline":"Doug Levy\u003cbr />NPR Shots","nprImageAgency":"Douglas Levy for NPR","nprStoryId":"562564639","nprApiLink":"http://api.npr.org/query?id=562564639&apiKey=MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004","nprHtmlLink":"https://www.npr.org/sections/health-shots/2017/11/08/562564639/you-can-get-your-dna-tested-at-an-nfl-game-should-you?ft=nprml&f=562564639","nprRetrievedStory":"1","nprPubDate":"Wed, 08 Nov 2017 15:44:00 -0500","nprStoryDate":"Wed, 08 Nov 2017 05:00:00 -0500","nprLastModifiedDate":"Wed, 08 Nov 2017 20:19:10 -0500","path":"/futureofyou/436928/free-dna-kits-at-s-f-49ers-games-attract-skeptics-and-regulators","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>Depending on whom you ask, finding out whether your genes make you a better athlete or give you healthier skin may be as easy as swabbing your cheeks for a DNA test on your way into a football game. But others say these \"wellness\" tests marketed directly to consumers are modern snake oil — worthless, or even misleading.\u003c/p>\n\u003cp>On Monday, the Food and Drug Administration gave a boost to direct-to-consumer genetic testing when it announced plans to streamline its approval process.\u003c/p>\n\u003caside class=\"pullquote alignright\">'Giving out DNA kits at a football game screams out for regulation.'\u003ccite>Peter Pitts, Center for Medicine in the Public Interest\u003c/cite>\u003c/aside>\n\u003cp>\"These tests can prompt consumers to be more engaged in pursuing the benefits of healthy lifestyle choices and more aware of their health risks,\" FDA Commissioner Scott Gottlieb said in a \u003ca href=\"https://www.prnewswire.com/news-releases/statement-from-fda-commissioner-scott-gottlieb-md-on-implementation-of-agencys-streamlined-development-and-review-pathway-for-consumer-tests-that-evaluate-genetic-health-risks-300549992.html\" target=\"_blank\" rel=\"noopener\">statement\u003c/a>. However, he continued, \"They're not without their own risks — especially if they provide consumers with incorrect or misleading information that may be used to make health choices without considering the advice of a medical professional.\"\u003c/p>\n\u003cp>The FDA intends to let sellers of direct-to-consumer DNA test kits seek a one-time FDA review, which would allow subsequent tests to be sold without going first to the FDA for approval. Under present rules, each new health test must be submitted and reviewed. The FDA's jurisdiction applies to tests used to assess or diagnose health.\u003c/p>\n\u003cp>But a company in Boston is finding out that mass marketing of DNA tests attracts not just customers and fans, but skeptics and regulators. \u003ca href=\"http://orig3n.com/\" target=\"_blank\" rel=\"noopener\">Orig3n\u003c/a>, which sells genetic test kits with catchy names like \"Fitcode,\" \"Fuel\" and \"Bliss\" at festivals and sporting events, now finds itself under scrutiny by state and federal officials.\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 California Department of Public Health is investigating the nature and distribution of these test kits by Orig3n at Levi's Stadium in Santa Clara,\" a department representative said in an email.\u003c/p>\n\u003cp>At every 49ers home game during the current season, the company has a booth where it offers free introductory DNA test kits to the 68,000 fans entering the stadium. Fans can also purchase other tests at prices ranging from $29 to $149 each. It has a similar relationship with the Baltimore Ravens, but a plan to give test kits to every fan entering a September game was called off after Maryland regulators had some questions.\u003c/p>\n\u003cp>\"I want people to learn more about themselves, and what they choose to do with that information is really up to them,\" says Orig3n co-founder and chief operating officer Kate Blanchard. \"But some of the information can really impact the way they live their life.\"\u003c/p>\n\u003cp>That is precisely the problem, and it's why state and federal regulators have said that \"information\" tests like Orig3n's should be regulated as medical tests, because they're assessing a person's health. It's a complex question, as the FDA's Gottlieb notes. \"Consider the consequences of a person who is told they're not at risk for coronary heart disease and incorrectly opts to forgo dietary changes or drugs that reduce their risk of heart attack and death,\" he says.\u003c/p>\n\u003cp>As much as genetic science has advanced, scientists do not fully understand how the more than 50 million known genetic variations interact with each other or with lifestyle and other factors to affect someone's health, wellness or behavior. Very few genes are as closely associated with a specific outcome as the breast cancer genes BRCA1 and BRCA2, and even a positive test for these cancer-associated genes is insufficient for doctors to advise patients to have surgery or other major treatments.\u003c/p>\n\u003cp>In other words, you can get a test that tells you what variations you have, but that test alone cannot predict your future or dictate specific health or lifestyle decisions. Skeptics worry that people will read too much into genetic test results, especially if they are done without the help of a medical professional.\u003c/p>\n\u003cp>Blanchard says she stepped up her personal training regimen after her DNA test indicated that she might perform well in endurance sports. She says it was a change she might not have made without this information.\u003c/p>\n\u003cp>Distributing DNA tests to tens of thousands of people at NFL football games \"is not good clinical practice,\" says Peter Pitts, president of the advocacy group \u003ca href=\"http://cmpi.org/\">Center for Medicine in the Public Interest\u003c/a>. Unlike tests done in clinical laboratories, like tests for diabetes or cholesterol, there is less control over the quality of the test process, so the resulting data may be \"highly questionable,\" says Pitts, who is a former associate commissioner of the Food and Drug Administration.\u003c/p>\n\u003cp>Now you can get a nutrition plan and ready-to-eat meals based on \"your body's unique make-up\" from Campbell's Soup-funded \u003ca href=\"http://habit.com/\">Habit\u003c/a>. \u003ca href=\"http://ancestry.com/\">Ancestry\u003c/a> sells a test that \"tells a more complete story of you,\" and \u003ca href=\"https://www.helix.com/shop/\">Helix\u003c/a> promotes more than a dozen of its partners who sell genetic tests ranging from National Geographic (your ancestor's migration paths) to companies that offer targeted fitness routines based on the DNA results, and several health companies. There is even a \u003ca href=\"https://www.helix.com/shop/vinome-wine-explorer/\">wine club\u003c/a> with wines \"scientifically selected based on your DNA.\"\u003c/p>\n\u003cp>\"We don't begrudge the excitement and the desire to help people based on genetics,\" says Shirley Wu, director of product science for 23andMe, a direct-to-consumer genetic testing company that started in 2006. However, she questions companies that may be overpromising on what the tests can tell you. The science behind some consumer-oriented tests is lacking, says Wu. \"We are still at the beginning of our understanding.\"\u003c/p>\n\u003cp>The FDA \u003ca href=\"https://www.npr.org/sections/health-shots/2013/12/06/249231236/23andme-bows-to-fdas-demands-drops-health-claims\">halted 23andMe's sales\u003c/a> of medical-risk tests in 2013, saying that it couldn't prove those tests were accurate. In April, 23andMe obtained federal \u003ca href=\"https://www.fda.gov/newsevents/newsroom/pressannouncements/ucm551185.htm\">clearance\u003c/a> to resume selling direct-to-consumer DNA tests for certain health risks. Now, consumers can get reports on their ancestry as well as genes associated with sleep quality, lactose sensitivity, weight and other wellness factors and risks for several dozen inherited conditions for about $200.\u003c/p>\n\u003cp>And companies can offer very different information on the same finding. That's evident in two reports on the CC variant of the ACTN3 gene:\u003c/p>\n\u003cul>\n\u003cli>23andMe tells you that you have a trait \"common among elite power athletes ... but its role for non-elite athletes isn't completely understood.\" The report also says that lifestyle and training are the driver of athletic performance for most people.\u003c/li>\n\u003cli>Orig3n also tells you that this trait is common in elite athletes and \"is found in 45 percent of the general population.\" And it \"contributes to your ability to perform better in sports requiring power such as sprinting.\" The Orig3n report recommends the types of sports that someone with this biomarker might want to pursue.\u003c/li>\n\u003c/ul>\n\u003cp>A \u003ca href=\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278350/\">2015 review\u003c/a> of genetic testing for sports concluded that there is little value to knowing the ACTN3 or other variants in recreational athletes. However, genetic testing of professional athletes may be useful for training and injury prevention, the review authors concluded.\u003c/p>\n\u003cp>\"For the most part, data on personal genomic testing have revealed little or no harms but also little or no health benefits,\" writes Dr. Muin Khoury, director of the Office of Public Health Genomics at the Centers for Disease Control and Prevention in a \u003ca href=\"https://blogs.cdc.gov/genomics/2017/04/18/direct-to-consumer-2/\">recent article\u003c/a>. \"Also, evidence on the ability of genetic information to change health behavior has been lacking.\"\u003c/p>\n\u003cp>Blanchard says that Orig3n got the idea for its fitness DNA test after it solicited blood samples for research at marathons and other sporting events. \"People started asking, 'What can you tell me about me?' \" she says.\u003c/p>\n\u003cp>The business model for 23andMe, Helix and some of the other direct-to-consumer DNA testing companies doesn't rely solely on sales of test kits. They want to aggregate massive amounts of human genetic data that can be mined for research and commercial uses. Consumers are asked to \"opt-in\" to this when getting tested — and most do, according to 23andMe.\u003c/p>\n\u003cp>Orig3n is an exception: It says it would contact people separately if it ever wanted to use the DNA for anything other than the person's own tests. But those test kits create a pool of people who would be more likely to give blood samples for Orig3n's stem cell research. Its business banks on amassing tens of thousands of human blood samples so that it can create many stem cell lines.\u003c/p>\n\u003cp>Orig3n has sponsorship arrangements with the Baltimore Ravens and the San Francisco 49ers football teams. Fans at home games can get a free test that reports on three genes — ACTN3 for muscle force, FOXP2 for language-learning ability and AGER for skin aging. For $149, Orig3n reports back on 27 genes related to strength, metabolism, endurance and power. The company's other tests are to provide information about genes associated with skin, child development, and how you think, feel and react.\u003c/p>\n\u003cp>Orig3n says its tests are \"not diagnostic\" and \"for informational purposes only.\" The federal agency that oversees medical labs disagrees. That distinction is critical because it is the boundary between regulated medical services and ones that avoid that level of scrutiny.\u003c/p>\n\u003cp>After reviewing Orig3n's materials, the Centers for Medicare and Medicaid Services told the company on Oct. 30 that it must follow the rules for medical laboratories because its services include \"genetic testing for the assessment of health.\"\u003c/p>\n\u003cp>The decision was based on 18 of the 140 genes included in Orig3n's tests, according to a \u003ca href=\"https://www.documentcloud.org/documents/4176983-CMS-Letter.html\">letter\u003c/a> from CMS to Orig3n.\u003c/p>\n\u003cp>Orig3n's Blanchard says the company will continue selling its tests without those 18 genes until Orig3n receives approval from regulators to resume. In addition to CMS, Orig3n must satisfy state regulators in Massachusetts, Maryland and California – or any other states where it operates. \"Going forward, we will continue to work with CMS, California, Massachusetts and the other states to ensure that we are meeting all federal and state regulatory requirements regarding our products,\" Blanchard said in an email.\u003c/p>\n\u003cp>That may not be enough to satisfy all the critics. Says Pitts: \"Giving out DNA kits at a football game screams out for regulation.\"\u003c/p>\n\u003chr>\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>\u003cem>Doug Levy is a freelance writer based in Sausalito, Calif. \u003c/em>\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2017 NPR. To see more, visit http://www.npr.org/.\u003cimg src=\"https://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=You+Can+Get+Your+DNA+Tested+At+An+NFL+Game.+Should+You%3F+&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\">\u003c/div>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/436928/free-dna-kits-at-s-f-49ers-games-attract-skeptics-and-regulators","authors":["byline_futureofyou_436928"],"categories":["futureofyou_452","futureofyou_1","futureofyou_73","futureofyou_1064"],"tags":["futureofyou_15","futureofyou_1390","futureofyou_1015","futureofyou_1391"],"featImg":"futureofyou_436943","label":"source_futureofyou_436928"},"futureofyou_435096":{"type":"posts","id":"futureofyou_435096","meta":{"index":"posts_1591205157","site":"futureofyou","id":"435096","score":null,"sort":[1504197017000]},"guestAuthors":[],"slug":"as-human-gene-editing-advances-doudna-says-ethical-discussions-cant-wait","title":"As Human Gene-Editing Advances, Doudna Says Ethical Discussions Can't Wait","publishDate":1504197017,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>If you want to have a role in shaping the near and coming future of biotechnology, the time is now. A science degree is not required, but a sense of urgency is.\u003c/p>\n\u003cp>This was the primary takeaway from Jennifer Doudna's recent public remarks at\u003ca href=\"http://crisprcon.org/\" target=\"_blank\" rel=\"noopener noreferrer\"> CRISPRcon\u003c/a>, a two day event at UC Berkeley, intended to get nonspecialists talking about the promise and potential peril of the fast-moving biotech landscape.\u003c/p>\n\u003cp>\"Decisions about gene editing have an impact on all of us,\" said Michael Krasney, host of KQED's \"Forum\" radio program and the CRISPRcon emcee. \"That's why there are no outsiders in discussing this topic.\" (For a primer on how CRISPR gene editing works, check out our story \"\u003ca href=\"https://ww2.kqed.org/futureofyou/2015/12/30/a-crispr-solution-to-bubble-boy-disease/\" target=\"_blank\" rel=\"noopener noreferrer\">CRISPR: What You Need to Know About the Medical Science ‘Breakthrough of the Year\u003c/a>.\")\u003c/p>\n\u003caside class=\"pullquote alignright\">\"We can no longer say, well there's a lot of technology development to be done before we have to worry about that application, it's now a question of 'We know this can work, are we willing to go there or not?'\" \u003ccite>Jennifer Doudna, one of the inventors of CRISPR/Cas9 gene-editing technology\u003c/cite>\u003c/aside>\n\u003cp>The National Academies of Sciences, Engineering and Medicine wants public input, as well. The rationale is, if it affects the public, the public should have a say.\u003c/p>\n\u003cp>\u003cstrong>What's at Stake\u003c/strong>\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>In her new book, \"\u003ca href=\"http://www.acrackincreation.com/\" target=\"_blank\" rel=\"noopener noreferrer\">A Crack in Creation: Gene Editing and the Unthinkable Power to Control Evolution\u003c/a>,\" Doudna (who co-authored the book with former student Samuel Sternberg) writes humans are \"on the cusp of a new age in genetic engineering and biological mastery.\"\u003c/p>\n\u003cp>\"It won’t be long before CRISPR allows us to bend nature to our will.”\u003c/p>\n\u003cp>CRISPR applications could bring us \u003ca href=\"https://www.sciencedaily.com/releases/2017/05/170518140335.htm\" target=\"_blank\" rel=\"noopener noreferrer\">higher tomato yields\u003c/a> or cattle \u003ca href=\"https://geneticliteracyproject.org/2016/05/11/gene-edited-hornless-cow-improve-animal-welfare-regulatory-fate-unclear/\" target=\"_blank\" rel=\"noopener noreferrer\">born without horns\u003c/a> (allowing livestock to avoid the potentially painful procedure of having them removed). Ongoing medical research using CRISPR includes \u003ca href=\"https://www.nature.com/news/first-crispr-clinical-trial-gets-green-light-from-us-panel-1.20137\" target=\"_blank\" rel=\"noopener noreferrer\">gene editing to target immune response\u003c/a> in cancer patients and to \u003ca href=\"https://www.nature.com/news/crispr-deployed-to-combat-sickle-cell-anaemia-1.20782\" target=\"_blank\" rel=\"noopener noreferrer\">correct sickle-cell anemia\u003c/a>, a painful blood disorder.\u003c/p>\n\u003cp>But the $10 million question at CRISPRcon loomed large:\u003c/p>\n\u003cp>\"How do you decide which genes are appropriate for germline editing?\" asked a woman in the audience, during a question and answer session with Doudna. Germline editing means that the changes made affect sperm or egg cells, and therefore can be inherited.\u003c/p>\n\u003cp>[contextly_sidebar id=\"HfCYio1aAJwJdg2Ip7LwMBF1sWeN5NFY\"]\"That's a question that could be debated and discussed for the entire time of the conference,\" said Doudna. But her short answer, referencing a \u003ca href=\"http://www.nationalacademies.org/gene-editing/consensus-study/index.htm\" target=\"_blank\" rel=\"noopener noreferrer\">recent report with recommendations\u003c/a> from the National Academies, was, \"We look for situations where there would be no other reasonable way to deal with a genetic disease other than gene editing. And when you think about it that way, those situations are rather rare.\"\u003c/p>\n\u003cp>Preimplantation genetic diagnosis (for parents using in vitro fertilization) and genetic counseling can offer routes to avoid serious genetic mutations without gene editing. This latter technique would, however, require parents to decide if they are willing to terminate a pregnancy.\u003c/p>\n\u003cp>Doudna believes that in most cases genetic counseling and preimplantation genetic diagnosis are sufficient to deal with disorders caused by a single gene. But some couples might not have any other option to conceive a healthy embryo outside of editing their genes. For example, if both parents both have the same disease-causing gene, \"That's an issue where gene editing could be relevant in the future.\"\u003c/p>\n\u003cp>For any parents who want to select for green-eyed, athletic geniuses, their best bet is still a random roll of the dice, not gene-editing, if the National Academies has anything to do with it. \"Do not proceed at this time with human genome editing for purposes other than treatment or prevention of disease and disability,\" the study recommends.\u003c/p>\n\u003cp>But the question of whether embryos should be edited to avoid disease and disability has reached new urgency, says Doudna, with the publication several weeks ago of the first \u003ca href=\"https://ww2.kqed.org/futureofyou/2017/07/27/scientists-in-us-edit-human-embryos-with-crispr-for-first-time-reports-suggest/\" target=\"_blank\" rel=\"noopener noreferrer\">paper\u003c/a> that lays out a good protocol (a written procedure) for targeting a gene linked to disease. It has the potential of being useful in clinical applications.\u003c/p>\n\u003cp>\"What they showed, importantly,\" said Doudna, \"was that there was very few off-target effects [unintended changes] and also they could avoid something called 'mosaicism'. \" That arises when the desired edit occurs in only some of the cells in the developing embryo. Both edited and non-editing cells replicate, resulting in an organism with a genetic patchwork, which may or may not be harmful.\u003c/p>\n\u003cp>\"We now understand that, when applied in certain ways this technology can be very robust, in viable human embryos. We can no longer say, 'Well, there's a lot of technology development to be done before we have to worry about that application.' It's now a question of, 'We know this can work, are we willing to go there or not?' \"\u003c/p>\n\u003cp>Since CRISPRcon, the paper in question has come in for some \u003ca href=\"https://ipscell.com/2017/08/doubts-raised-on-key-points-of-nature-paper-on-crispr-gene-editing-of-human-embryos/\" target=\"_blank\" rel=\"noopener noreferrer\">recent criticism from scientists\u003c/a> not involved in the research. They call into question the main conclusions of the paper and say more definitive studies are needed. That said, most scientists believe precise editing in embryos will be possible someday, and likely someday soon.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>For members of the public eager to be part of the debate, events like CRISPRcon provide a rare forum with scientists like Doudna who have \u003ca href=\"https://ipscell.com/2015/06/doudnacongress/\" target=\"_blank\" rel=\"noopener noreferrer\">testified before Congress\u003c/a> regarding the science and ethics of gene editing. But for the average person on the street, the most direct route to voicing opinions and concerns may be \u003ca href=\"http://www.nationalacademies.org/gene-editing/consensus-study/index.htm\" target=\"_blank\" rel=\"noopener noreferrer\">submitting comments\u003c/a> on the homepage of the National Academies' Human Gene-Editing Initiative. Of course, there is also the tried and true method of \u003ca href=\"https://callyourrep.co/\" target=\"_blank\" rel=\"noopener noreferrer\">calling your representatives\u003c/a>.\u003c/p>\n\n","blocks":[],"excerpt":"Will debating the ethics of gene editing lead to more agreement? Some scientists and policy makers are hoping so. \r\n","status":"publish","parent":0,"modified":1504203620,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":21,"wordCount":959},"headData":{"title":"As Human Gene-Editing Advances, Doudna Says Ethical Discussions Can't Wait | KQED","description":"Will debating the ethics of gene editing lead to more agreement? Some scientists and policy makers are hoping so. \r\n","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"435096 https://ww2.kqed.org/futureofyou/?p=435096","disqusUrl":"https://ww2.kqed.org/futureofyou/2017/08/31/as-human-gene-editing-advances-doudna-says-ethical-discussions-cant-wait/","disqusTitle":"As Human Gene-Editing Advances, Doudna Says Ethical Discussions Can't Wait","source":"Future of You","path":"/futureofyou/435096/as-human-gene-editing-advances-doudna-says-ethical-discussions-cant-wait","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>If you want to have a role in shaping the near and coming future of biotechnology, the time is now. A science degree is not required, but a sense of urgency is.\u003c/p>\n\u003cp>This was the primary takeaway from Jennifer Doudna's recent public remarks at\u003ca href=\"http://crisprcon.org/\" target=\"_blank\" rel=\"noopener noreferrer\"> CRISPRcon\u003c/a>, a two day event at UC Berkeley, intended to get nonspecialists talking about the promise and potential peril of the fast-moving biotech landscape.\u003c/p>\n\u003cp>\"Decisions about gene editing have an impact on all of us,\" said Michael Krasney, host of KQED's \"Forum\" radio program and the CRISPRcon emcee. \"That's why there are no outsiders in discussing this topic.\" (For a primer on how CRISPR gene editing works, check out our story \"\u003ca href=\"https://ww2.kqed.org/futureofyou/2015/12/30/a-crispr-solution-to-bubble-boy-disease/\" target=\"_blank\" rel=\"noopener noreferrer\">CRISPR: What You Need to Know About the Medical Science ‘Breakthrough of the Year\u003c/a>.\")\u003c/p>\n\u003caside class=\"pullquote alignright\">\"We can no longer say, well there's a lot of technology development to be done before we have to worry about that application, it's now a question of 'We know this can work, are we willing to go there or not?'\" \u003ccite>Jennifer Doudna, one of the inventors of CRISPR/Cas9 gene-editing technology\u003c/cite>\u003c/aside>\n\u003cp>The National Academies of Sciences, Engineering and Medicine wants public input, as well. The rationale is, if it affects the public, the public should have a say.\u003c/p>\n\u003cp>\u003cstrong>What's at Stake\u003c/strong>\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 her new book, \"\u003ca href=\"http://www.acrackincreation.com/\" target=\"_blank\" rel=\"noopener noreferrer\">A Crack in Creation: Gene Editing and the Unthinkable Power to Control Evolution\u003c/a>,\" Doudna (who co-authored the book with former student Samuel Sternberg) writes humans are \"on the cusp of a new age in genetic engineering and biological mastery.\"\u003c/p>\n\u003cp>\"It won’t be long before CRISPR allows us to bend nature to our will.”\u003c/p>\n\u003cp>CRISPR applications could bring us \u003ca href=\"https://www.sciencedaily.com/releases/2017/05/170518140335.htm\" target=\"_blank\" rel=\"noopener noreferrer\">higher tomato yields\u003c/a> or cattle \u003ca href=\"https://geneticliteracyproject.org/2016/05/11/gene-edited-hornless-cow-improve-animal-welfare-regulatory-fate-unclear/\" target=\"_blank\" rel=\"noopener noreferrer\">born without horns\u003c/a> (allowing livestock to avoid the potentially painful procedure of having them removed). Ongoing medical research using CRISPR includes \u003ca href=\"https://www.nature.com/news/first-crispr-clinical-trial-gets-green-light-from-us-panel-1.20137\" target=\"_blank\" rel=\"noopener noreferrer\">gene editing to target immune response\u003c/a> in cancer patients and to \u003ca href=\"https://www.nature.com/news/crispr-deployed-to-combat-sickle-cell-anaemia-1.20782\" target=\"_blank\" rel=\"noopener noreferrer\">correct sickle-cell anemia\u003c/a>, a painful blood disorder.\u003c/p>\n\u003cp>But the $10 million question at CRISPRcon loomed large:\u003c/p>\n\u003cp>\"How do you decide which genes are appropriate for germline editing?\" asked a woman in the audience, during a question and answer session with Doudna. Germline editing means that the changes made affect sperm or egg cells, and therefore can be inherited.\u003c/p>\n\u003cp>\u003c/p>\u003cp>\u003c/p>\u003cp>\"That's a question that could be debated and discussed for the entire time of the conference,\" said Doudna. But her short answer, referencing a \u003ca href=\"http://www.nationalacademies.org/gene-editing/consensus-study/index.htm\" target=\"_blank\" rel=\"noopener noreferrer\">recent report with recommendations\u003c/a> from the National Academies, was, \"We look for situations where there would be no other reasonable way to deal with a genetic disease other than gene editing. And when you think about it that way, those situations are rather rare.\"\u003c/p>\n\u003cp>Preimplantation genetic diagnosis (for parents using in vitro fertilization) and genetic counseling can offer routes to avoid serious genetic mutations without gene editing. This latter technique would, however, require parents to decide if they are willing to terminate a pregnancy.\u003c/p>\n\u003cp>Doudna believes that in most cases genetic counseling and preimplantation genetic diagnosis are sufficient to deal with disorders caused by a single gene. But some couples might not have any other option to conceive a healthy embryo outside of editing their genes. For example, if both parents both have the same disease-causing gene, \"That's an issue where gene editing could be relevant in the future.\"\u003c/p>\n\u003cp>For any parents who want to select for green-eyed, athletic geniuses, their best bet is still a random roll of the dice, not gene-editing, if the National Academies has anything to do with it. \"Do not proceed at this time with human genome editing for purposes other than treatment or prevention of disease and disability,\" the study recommends.\u003c/p>\n\u003cp>But the question of whether embryos should be edited to avoid disease and disability has reached new urgency, says Doudna, with the publication several weeks ago of the first \u003ca href=\"https://ww2.kqed.org/futureofyou/2017/07/27/scientists-in-us-edit-human-embryos-with-crispr-for-first-time-reports-suggest/\" target=\"_blank\" rel=\"noopener noreferrer\">paper\u003c/a> that lays out a good protocol (a written procedure) for targeting a gene linked to disease. It has the potential of being useful in clinical applications.\u003c/p>\n\u003cp>\"What they showed, importantly,\" said Doudna, \"was that there was very few off-target effects [unintended changes] and also they could avoid something called 'mosaicism'. \" That arises when the desired edit occurs in only some of the cells in the developing embryo. Both edited and non-editing cells replicate, resulting in an organism with a genetic patchwork, which may or may not be harmful.\u003c/p>\n\u003cp>\"We now understand that, when applied in certain ways this technology can be very robust, in viable human embryos. We can no longer say, 'Well, there's a lot of technology development to be done before we have to worry about that application.' It's now a question of, 'We know this can work, are we willing to go there or not?' \"\u003c/p>\n\u003cp>Since CRISPRcon, the paper in question has come in for some \u003ca href=\"https://ipscell.com/2017/08/doubts-raised-on-key-points-of-nature-paper-on-crispr-gene-editing-of-human-embryos/\" target=\"_blank\" rel=\"noopener noreferrer\">recent criticism from scientists\u003c/a> not involved in the research. They call into question the main conclusions of the paper and say more definitive studies are needed. That said, most scientists believe precise editing in embryos will be possible someday, and likely someday soon.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>For members of the public eager to be part of the debate, events like CRISPRcon provide a rare forum with scientists like Doudna who have \u003ca href=\"https://ipscell.com/2015/06/doudnacongress/\" target=\"_blank\" rel=\"noopener noreferrer\">testified before Congress\u003c/a> regarding the science and ethics of gene editing. But for the average person on the street, the most direct route to voicing opinions and concerns may be \u003ca href=\"http://www.nationalacademies.org/gene-editing/consensus-study/index.htm\" target=\"_blank\" rel=\"noopener noreferrer\">submitting comments\u003c/a> on the homepage of the National Academies' Human Gene-Editing Initiative. Of course, there is also the tried and true method of \u003ca href=\"https://callyourrep.co/\" target=\"_blank\" rel=\"noopener noreferrer\">calling your representatives\u003c/a>.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/435096/as-human-gene-editing-advances-doudna-says-ethical-discussions-cant-wait","authors":["11088"],"categories":["futureofyou_452","futureofyou_1062","futureofyou_1","futureofyou_73"],"tags":["futureofyou_1308","futureofyou_94","futureofyou_1275","futureofyou_295","futureofyou_953"],"featImg":"futureofyou_435099","label":"source_futureofyou_435096"},"futureofyou_170565":{"type":"posts","id":"futureofyou_170565","meta":{"index":"posts_1591205157","site":"futureofyou","id":"170565","score":null,"sort":[1464729486000]},"guestAuthors":[],"slug":"amid-intense-isolation-stirrings-of-hope-for-families-with-rarest-genetic-mutations","title":"Stirrings of Hope for Families Isolated by Rarest of Genetic Conditions","publishDate":1464729486,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>Shortly after \u003ca href=\"http://milosjourney.com/\" target=\"_blank\">Milo Lorentzen\u003c/a> was born, nurses whisked him away to the neonatal intensive care unit for low blood sugar and jaundice. An exam then found a cluster of irregularities, including a cleft palate and a hole in his heart.\u003c/p>\n\u003cp>The staff called in a geneticist, who issued a misdiagnosis—the first frustrating episode in what would become years of testing, as Karen Park and Peter Lorentzen searched for a way to help their son.\u003c/p>\n\u003caside class=\"pullquote alignright\">'You're the 'other-other,' and not just the 'other.'\"\u003ccite>Karen Park, Milo's mother\u003c/cite>\u003c/aside>\n\u003cp>Five years later, Park and Lorentzen know Milo's significant developmental delays likely stem from a mutation in a gene called KDM1A. He didn't inherit that mutation from his parents; it's new in Milo. And because a mutation in that gene is so rare, little is known about it. There is no treatment.\u003c/p>\n\u003cp>If KDM1A is indeed the culprit, Milo has what’s known as a \u003ca href=\"http://www.ncbi.nlm.nih.gov/books/NBK132145/\" target=\"_blank\">Mendelian disorder\u003c/a>—a rare condition caused by a genetic mutation, typically in a single gene. There are some 7,000-8,000 known Mendelian conditions, but researchers have found the genetic cause for only half. The rest are identified as Mendelian because they are transmitted from parents to children in ways suggesting they are caused by single genes.\u003c/p>\n\u003cp>In some cases—and researchers say Milo's appears to be one of them—a new mutation reveals a new condition, previously unidentified.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>Families with an unidentified genetic illness are lost in an information desert, isolated by protocols that protect research until published, and by health privacy laws that prevent, for example, a genetics lab from connecting two families with the same mutation.\u003c/p>\n\u003cp>The journey of Milo Lorentzen reveals what \u003ca href=\"https://www.bcm.edu/people/view/christian-schaaf-m-d-ph-d/b251d11c-ffed-11e2-be68-080027880ca6\" target=\"_blank\">Dr. Christian Schaaf\u003c/a>, an assistant professor at \u003ca href=\"https://www.bcm.edu/\" target=\"_blank\">Baylor College of Medicine\u003c/a>, says are two major inadequacies in genetic medicine—the absence of support for families with undiagnosed illnesses, and the lack of a clearinghouse where families and researchers can find one another.\u003c/p>\n\u003cp>[contextly_sidebar id=\"y6fCjzsdBLr9bsR5jKAH3kyZ56BhiTeO\"]“We all worry about the correct diagnosis, and therapy, and management of the disease,” Schaaf says, “but we don’t think enough about the isolation these families feel, about the stress and anxiety that comes with these disorders.”\u003c/p>\n\u003cp>Recently, however, new and cheaper techniques in genetic testing and efforts to connect families to each other and to researchers offer promise of a future less desolate.\u003c/p>\n\u003cp>\"There are lots of researchers who might be interested in families with genetic conditions if they knew they existed,” says \u003ca href=\"http://depts.washington.edu/bamshad/\" target=\"_blank\">Dr. Michael Bamshad\u003c/a>, principle investigator of the \u003ca href=\"http://uwcmg.org/#/\" target=\"_blank\">University of Washington Center for Mendelian Genomics\u003c/a>.\u003c/p>\n\u003cp>Bamshad is cofounder of \u003ca href=\"https://www.mygene2.org/MyGene2/\">MyGene2\u003c/a>, a website where families, researchers, and clinicians can connect and share information at no cost. The site is a \u003ca href=\"https://www.openscienceprize.org/res/p/finalists/\">finalist\u003c/a> in a National Institutes of Health competition to make scientific information broadly available.\u003c/p>\n\u003cp>\u003cstrong>'You're the Other-Other'\u003c/strong>\u003c/p>\n\u003cp>When your child has an undiagnosed genetic disorder, one of life's hallmarks is a frustrating series of tests yielding no answers.\u003c/p>\n\u003cp>“The first several years of his life was test after test,” says Karen Park, Milo’s mother. “X-rays, MRIs, blood tests, skin biopsies.”\u003c/p>\n\u003cfigure id=\"attachment_174418\" class=\"wp-caption aligncenter\" style=\"max-width: 2048px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/milo-podd-school.jpg\">\u003cimg src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/milo-podd-school.jpg\" alt=\"Milo Lorentzen is learning to read and speak using an alternative language method that incorporates symbols and pictures. He now reads at or above grade level. “He was starting to have behavioral issues until we gave him this method,” says his mother, Karen Park. “Now Milo has a voice.” \" width=\"2048\" height=\"1536\" class=\"size-full wp-image-174418\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school.jpg 2048w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-400x300.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-800x600.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-768x576.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-1180x885.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-1920x1440.jpg 1920w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-960x720.jpg 960w\" sizes=\"(max-width: 2048px) 100vw, 2048px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Milo Lorentzen is learning to read and speak using an alternative language method that incorporates symbols and pictures. “He was starting to have behavioral issues until we gave him this method,” says his mother, Karen Park. “Now Milo has a voice.” \u003ccite>(Marissa Miller)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Milo had a range of symptoms: low muscle tone and a body that lacked strength, making him slow to lift his head or push up off his stomach; and delays in mimicking people and expressing himself. To his doctors, these symptoms suggested many possibilities.\u003c/p>\n\u003cp>“It takes forever; it’s very slow,” Park says. “And when things keep coming back negative, you feel like: My child is getting tortured; I’m not getting any insight out of this; I just feel like giving up.”\u003c/p>\n\u003cp>Many rare disorders affect at least enough families to constitute what Park calls a tribe: parent groups, coping tips, research tools, and fundraising walks.\u003c/p>\n\u003cp>But Milo’s parents were on their own.\u003c/p>\n\u003cp>Researchers know of only two other children in the world who have a genetic mutation similar to Milo’s. In fact, KDM1A is known to be resistant to evolutionary change; a mutation is so rare researchers hardly ever see it in any animal species.\u003c/p>\n\u003cp>“You’re the ‘other-other’ and not just the ‘other,’” Park says.\u003c/p>\n\u003cfigure id=\"attachment_174447\" class=\"wp-caption aligncenter\" style=\"max-width: 720px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/Tess-happy-e1464726348263.jpg\">\u003cimg class=\"size-full wp-image-174447\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/Tess-happy-e1464726348263.jpg\" alt=\"Tess Bigelow is six years old and funtions at an 18-month-old level. Recently she walked 100 meters in the Special Olympics.\" width=\"720\" height=\"753\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263.jpg 720w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263-400x418.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263-574x600.jpg 574w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263-32x32.jpg 32w\" sizes=\"(max-width: 720px) 100vw, 720px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Tess Bigelow is six years old and funtions at an 18-month-old level. Recently she walked 100 meters in the Special Olympics. \u003ccite>(Bo Bigelow)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Bo Bigelow, whose daughter Tess is one of only 10 people in the world known to have a mutation in a gene called USP7, went five years before he knew there was anyone else with a similar mutation.\u003c/p>\n\u003cp>\"These days there are ribbons and awareness weeks for so many diseases,\" Bigelow says, \"but when yours is ultra-rare, you feel completely isolated. You feel like you’re never going to hear another person say, ‘Us too!’ And being connected to other families changes all that.\"\u003c/p>\n\u003cp>\u003cstrong>Pinpointing the Problem\u003c/strong>\u003c/p>\n\u003cp>In 2013, Milo's parents had his genes sequenced with a relatively new technique called exome sequencing, which streamlines the process by looking only at genes that code for proteins, and not all an individual's DNA. It was then they learned about Milo's gene mutation.\u003c/p>\n\u003cp>Still, mutations in KD1MA are so rare that just spotting it didn't give Milo's parents a diagnosis.\u003c/p>\n\u003cp>Why not?\u003c/p>\n\u003cp>“We don’t know what most of our genes do,” says geneticist Barry Starr.\u003c/p>\n\u003cfigure id=\"attachment_174450\" class=\"wp-caption alignright\" style=\"max-width: 250px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/DNA-1.jpg\">\u003cimg class=\"size-full wp-image-174450\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/DNA-1.jpg\" alt=\"Genes issue instructions to make proteins, which run the functions of our cells. Genes make up 1-2 percent of our DNA.\" width=\"250\" height=\"371\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Genes issue instructions to make proteins, which run the functions of our cells. Genes make up 1-2 percent of our DNA. \u003ccite>(National Institutes of Health)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Genes issue instructions to make proteins that run the functions of a cell. But discovering what any single gene mutation does is complicated.\u003c/p>\n\u003cp>You need to know how the mutation affects the proteins, and how the proteins related to the disease. You also want to know whether the mutation has appeared in other family members who have experienced symptoms.\u003c/p>\n\u003cp>“You’re playing all these games like a detective story,” says Starr, “trying to solve a mystery.”\u003c/p>\n\u003cp>One way to get a diagnosis is by looking at previous research.\u003c/p>\n\u003cp>Dr. Michael Bamshad once found a mutation in a gene called MYLPF in a boy who had no muscles in his foot. Bamshad found a mouse study in which researchers had made a deliberate mutation MYLPF, resulting in a complete lack of skeletal muscle in the rodent. That was enough evidence to conclude the MYLPF gene was involved in the boy's condition.\u003c/p>\n\u003cp>But sometimes there is no published research.\u003c/p>\n\u003cp>Bigelow says geneticists who told him of Tess' mutation didn’t know what the USP7 gene did.\u003c/p>\n\u003cp>“We know this is the gene, but we don’t know anything more than that,” says Bigelow.\u003c/p>\n\u003cp>\u003cstrong>Easing the Isolation\u003c/strong>\u003c/p>\n\u003cp>Bigelow put out a beacon to other families who might have the same mutation: \u003ca href=\"http://www.portlandrootsmedia.com/tess-genetic-mystery\" target=\"_blank\">a website\u003c/a> and social media posts. Remarkably, it took \u003ca href=\"http://ww2.kqed.org/futureofyou/2016/05/10/social-media-uncovers-rare-diagnosis-after-years-of-frustration/\" target=\"_blank\">less than a day\u003c/a> for a response. Researchers are now examining his daughter's case, and at their request Bigelow has used his website to find two more families with the same mutation.\u003c/p>\n\u003cp>But it's a lot slower for families and researchers to search through hundreds of websites and Facebook pages for common ground.\u003c/p>\n\u003cp>\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/My-gene2.png\">\u003cimg class=\"aligncenter size-full wp-image-174459\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/My-gene2.png\" alt=\"My gene2\" width=\"627\" height=\"264\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/05/My-gene2.png 627w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/My-gene2-400x168.png 400w\" sizes=\"(max-width: 627px) 100vw, 627px\">\u003c/a>\u003c/p>\n\u003cp>Now Bigelow and Milo Lorentzen’s parents are registered on MyGene2, where roughly 130 families are seeking information on mutations in more than \u003ca href=\"https://www.mygene2.org/MyGene2/genes\" target=\"_blank\">100 genes\u003c/a>.\u003c/p>\n\u003cp>Bamshad envisions expanding that to tens of thousands of families.\u003c/p>\n\u003cp>\"Our major goal is gene discovery and facilitating clinical diagnosis,” he says. “Very quickly, we could identify hundreds of Mendelian conditions and help thousands of families get a diagnosis for rare diseases.”\u003c/p>\n\u003cp>The main stumbling block is money to pay for outreach, Bamshad says. Tens of thousands of exome sequences are siloed at individual labs and clinics around the country. Because of federal privacy laws, the only people who can share those are the families who had them commissioned.\u003c/p>\n\u003cp>“We see lots of families on Facebook who are searching for a diagnosis,” says geneticist \u003ca href=\"https://depts.washington.edu/genediv/directory/jchong\" target=\"_blank\">Jessica Chong\u003c/a>, MyGene2 cofounder. “It would take time to go search for them and message each one of them to say, ‘We can help you.’”\u003c/p>\n\u003cfigure id=\"attachment_174559\" class=\"wp-caption aligncenter\" style=\"max-width: 718px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/05/Tess-track-e1464741655230.jpg\">\u003cimg class=\"size-full wp-image-174559\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/05/Tess-track-e1464741655230.jpg\" alt=\"Tess Bigelow stomps it out on the track where she competed in the Special Olympics.\" width=\"718\" height=\"590\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/05/Tess-track-e1464741655230.jpg 718w, https://ww2.kqed.org/app/uploads/sites/13/2016/05/Tess-track-e1464741655230-400x329.jpg 400w\" sizes=\"(max-width: 718px) 100vw, 718px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Tess Bigelow stomps it out on the track where she\u003ca href=\"http://www.portlandrootsmedia.com/strongerpodcast/2016/5/4/68-special-is-an-understatement\" target=\"_blank\"> prepares to compete \u003c/a>in the Special Olympics. \u003ccite>(Bo Bigelow)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Dr. Christian Schaaf, who's working with Tess Bigelow's mutation, says it has typically taken 15-20 years from the time a disease gene has been discovered until the first patients enter clinical trials. He's hoping new sequencing tools and social outreach can shrink that to seven or eight years.\u003c/p>\n\u003cp>Milo's parents hope that new research will give them more answers. They found a U.S. lab that's agreed to grow cell lines from Milo's and his father's DNA, and another lab in Europe is looking to run studies using the gene-editing tool CRISPR.\u003c/p>\n\u003cp>If the labs can replicate Milo's mutation and study its effects, perhaps Karen Park and Peter Lorentzen will learn more about how the mutation leads to his disorder. From there, will some lab be willing to look at developing a treatment? They don't know.\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>\"It's all us flying blind and making it up as we go along,\" says Park.\u003c/p>\n\n","blocks":[],"excerpt":"New, cheaper techniques in genetic testing and a new web portal connecting families with researchers and clinicians offer promise of a future less desolate.","status":"publish","parent":0,"modified":1464995089,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":50,"wordCount":1676},"headData":{"title":"Stirrings of Hope for Families Isolated by Rarest of Genetic Conditions | KQED","description":"New, cheaper techniques in genetic testing and a new web portal connecting families with researchers and clinicians offer promise of a future less desolate.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"170565 http://ww2.kqed.org/futureofyou/?p=170565","disqusUrl":"https://ww2.kqed.org/futureofyou/2016/05/31/amid-intense-isolation-stirrings-of-hope-for-families-with-rarest-genetic-mutations/","disqusTitle":"Stirrings of Hope for Families Isolated by Rarest of Genetic Conditions","source":"Big Ideas","path":"/futureofyou/170565/amid-intense-isolation-stirrings-of-hope-for-families-with-rarest-genetic-mutations","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>Shortly after \u003ca href=\"http://milosjourney.com/\" target=\"_blank\">Milo Lorentzen\u003c/a> was born, nurses whisked him away to the neonatal intensive care unit for low blood sugar and jaundice. An exam then found a cluster of irregularities, including a cleft palate and a hole in his heart.\u003c/p>\n\u003cp>The staff called in a geneticist, who issued a misdiagnosis—the first frustrating episode in what would become years of testing, as Karen Park and Peter Lorentzen searched for a way to help their son.\u003c/p>\n\u003caside class=\"pullquote alignright\">'You're the 'other-other,' and not just the 'other.'\"\u003ccite>Karen Park, Milo's mother\u003c/cite>\u003c/aside>\n\u003cp>Five years later, Park and Lorentzen know Milo's significant developmental delays likely stem from a mutation in a gene called KDM1A. He didn't inherit that mutation from his parents; it's new in Milo. And because a mutation in that gene is so rare, little is known about it. There is no treatment.\u003c/p>\n\u003cp>If KDM1A is indeed the culprit, Milo has what’s known as a \u003ca href=\"http://www.ncbi.nlm.nih.gov/books/NBK132145/\" target=\"_blank\">Mendelian disorder\u003c/a>—a rare condition caused by a genetic mutation, typically in a single gene. There are some 7,000-8,000 known Mendelian conditions, but researchers have found the genetic cause for only half. The rest are identified as Mendelian because they are transmitted from parents to children in ways suggesting they are caused by single genes.\u003c/p>\n\u003cp>In some cases—and researchers say Milo's appears to be one of them—a new mutation reveals a new condition, previously unidentified.\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>Families with an unidentified genetic illness are lost in an information desert, isolated by protocols that protect research until published, and by health privacy laws that prevent, for example, a genetics lab from connecting two families with the same mutation.\u003c/p>\n\u003cp>The journey of Milo Lorentzen reveals what \u003ca href=\"https://www.bcm.edu/people/view/christian-schaaf-m-d-ph-d/b251d11c-ffed-11e2-be68-080027880ca6\" target=\"_blank\">Dr. Christian Schaaf\u003c/a>, an assistant professor at \u003ca href=\"https://www.bcm.edu/\" target=\"_blank\">Baylor College of Medicine\u003c/a>, says are two major inadequacies in genetic medicine—the absence of support for families with undiagnosed illnesses, and the lack of a clearinghouse where families and researchers can find one another.\u003c/p>\n\u003cp>\u003c/p>\u003cp>\u003c/p>\u003cp>“We all worry about the correct diagnosis, and therapy, and management of the disease,” Schaaf says, “but we don’t think enough about the isolation these families feel, about the stress and anxiety that comes with these disorders.”\u003c/p>\n\u003cp>Recently, however, new and cheaper techniques in genetic testing and efforts to connect families to each other and to researchers offer promise of a future less desolate.\u003c/p>\n\u003cp>\"There are lots of researchers who might be interested in families with genetic conditions if they knew they existed,” says \u003ca href=\"http://depts.washington.edu/bamshad/\" target=\"_blank\">Dr. Michael Bamshad\u003c/a>, principle investigator of the \u003ca href=\"http://uwcmg.org/#/\" target=\"_blank\">University of Washington Center for Mendelian Genomics\u003c/a>.\u003c/p>\n\u003cp>Bamshad is cofounder of \u003ca href=\"https://www.mygene2.org/MyGene2/\">MyGene2\u003c/a>, a website where families, researchers, and clinicians can connect and share information at no cost. The site is a \u003ca href=\"https://www.openscienceprize.org/res/p/finalists/\">finalist\u003c/a> in a National Institutes of Health competition to make scientific information broadly available.\u003c/p>\n\u003cp>\u003cstrong>'You're the Other-Other'\u003c/strong>\u003c/p>\n\u003cp>When your child has an undiagnosed genetic disorder, one of life's hallmarks is a frustrating series of tests yielding no answers.\u003c/p>\n\u003cp>“The first several years of his life was test after test,” says Karen Park, Milo’s mother. “X-rays, MRIs, blood tests, skin biopsies.”\u003c/p>\n\u003cfigure id=\"attachment_174418\" class=\"wp-caption aligncenter\" style=\"max-width: 2048px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/milo-podd-school.jpg\">\u003cimg src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/milo-podd-school.jpg\" alt=\"Milo Lorentzen is learning to read and speak using an alternative language method that incorporates symbols and pictures. He now reads at or above grade level. “He was starting to have behavioral issues until we gave him this method,” says his mother, Karen Park. “Now Milo has a voice.” \" width=\"2048\" height=\"1536\" class=\"size-full wp-image-174418\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school.jpg 2048w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-400x300.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-800x600.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-768x576.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-1180x885.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-1920x1440.jpg 1920w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-960x720.jpg 960w\" sizes=\"(max-width: 2048px) 100vw, 2048px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Milo Lorentzen is learning to read and speak using an alternative language method that incorporates symbols and pictures. “He was starting to have behavioral issues until we gave him this method,” says his mother, Karen Park. “Now Milo has a voice.” \u003ccite>(Marissa Miller)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Milo had a range of symptoms: low muscle tone and a body that lacked strength, making him slow to lift his head or push up off his stomach; and delays in mimicking people and expressing himself. To his doctors, these symptoms suggested many possibilities.\u003c/p>\n\u003cp>“It takes forever; it’s very slow,” Park says. “And when things keep coming back negative, you feel like: My child is getting tortured; I’m not getting any insight out of this; I just feel like giving up.”\u003c/p>\n\u003cp>Many rare disorders affect at least enough families to constitute what Park calls a tribe: parent groups, coping tips, research tools, and fundraising walks.\u003c/p>\n\u003cp>But Milo’s parents were on their own.\u003c/p>\n\u003cp>Researchers know of only two other children in the world who have a genetic mutation similar to Milo’s. In fact, KDM1A is known to be resistant to evolutionary change; a mutation is so rare researchers hardly ever see it in any animal species.\u003c/p>\n\u003cp>“You’re the ‘other-other’ and not just the ‘other,’” Park says.\u003c/p>\n\u003cfigure id=\"attachment_174447\" class=\"wp-caption aligncenter\" style=\"max-width: 720px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/Tess-happy-e1464726348263.jpg\">\u003cimg class=\"size-full wp-image-174447\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/Tess-happy-e1464726348263.jpg\" alt=\"Tess Bigelow is six years old and funtions at an 18-month-old level. Recently she walked 100 meters in the Special Olympics.\" width=\"720\" height=\"753\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263.jpg 720w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263-400x418.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263-574x600.jpg 574w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263-32x32.jpg 32w\" sizes=\"(max-width: 720px) 100vw, 720px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Tess Bigelow is six years old and funtions at an 18-month-old level. Recently she walked 100 meters in the Special Olympics. \u003ccite>(Bo Bigelow)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Bo Bigelow, whose daughter Tess is one of only 10 people in the world known to have a mutation in a gene called USP7, went five years before he knew there was anyone else with a similar mutation.\u003c/p>\n\u003cp>\"These days there are ribbons and awareness weeks for so many diseases,\" Bigelow says, \"but when yours is ultra-rare, you feel completely isolated. You feel like you’re never going to hear another person say, ‘Us too!’ And being connected to other families changes all that.\"\u003c/p>\n\u003cp>\u003cstrong>Pinpointing the Problem\u003c/strong>\u003c/p>\n\u003cp>In 2013, Milo's parents had his genes sequenced with a relatively new technique called exome sequencing, which streamlines the process by looking only at genes that code for proteins, and not all an individual's DNA. It was then they learned about Milo's gene mutation.\u003c/p>\n\u003cp>Still, mutations in KD1MA are so rare that just spotting it didn't give Milo's parents a diagnosis.\u003c/p>\n\u003cp>Why not?\u003c/p>\n\u003cp>“We don’t know what most of our genes do,” says geneticist Barry Starr.\u003c/p>\n\u003cfigure id=\"attachment_174450\" class=\"wp-caption alignright\" style=\"max-width: 250px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/DNA-1.jpg\">\u003cimg class=\"size-full wp-image-174450\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/DNA-1.jpg\" alt=\"Genes issue instructions to make proteins, which run the functions of our cells. Genes make up 1-2 percent of our DNA.\" width=\"250\" height=\"371\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Genes issue instructions to make proteins, which run the functions of our cells. Genes make up 1-2 percent of our DNA. \u003ccite>(National Institutes of Health)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Genes issue instructions to make proteins that run the functions of a cell. But discovering what any single gene mutation does is complicated.\u003c/p>\n\u003cp>You need to know how the mutation affects the proteins, and how the proteins related to the disease. You also want to know whether the mutation has appeared in other family members who have experienced symptoms.\u003c/p>\n\u003cp>“You’re playing all these games like a detective story,” says Starr, “trying to solve a mystery.”\u003c/p>\n\u003cp>One way to get a diagnosis is by looking at previous research.\u003c/p>\n\u003cp>Dr. Michael Bamshad once found a mutation in a gene called MYLPF in a boy who had no muscles in his foot. Bamshad found a mouse study in which researchers had made a deliberate mutation MYLPF, resulting in a complete lack of skeletal muscle in the rodent. That was enough evidence to conclude the MYLPF gene was involved in the boy's condition.\u003c/p>\n\u003cp>But sometimes there is no published research.\u003c/p>\n\u003cp>Bigelow says geneticists who told him of Tess' mutation didn’t know what the USP7 gene did.\u003c/p>\n\u003cp>“We know this is the gene, but we don’t know anything more than that,” says Bigelow.\u003c/p>\n\u003cp>\u003cstrong>Easing the Isolation\u003c/strong>\u003c/p>\n\u003cp>Bigelow put out a beacon to other families who might have the same mutation: \u003ca href=\"http://www.portlandrootsmedia.com/tess-genetic-mystery\" target=\"_blank\">a website\u003c/a> and social media posts. Remarkably, it took \u003ca href=\"http://ww2.kqed.org/futureofyou/2016/05/10/social-media-uncovers-rare-diagnosis-after-years-of-frustration/\" target=\"_blank\">less than a day\u003c/a> for a response. Researchers are now examining his daughter's case, and at their request Bigelow has used his website to find two more families with the same mutation.\u003c/p>\n\u003cp>But it's a lot slower for families and researchers to search through hundreds of websites and Facebook pages for common ground.\u003c/p>\n\u003cp>\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/My-gene2.png\">\u003cimg class=\"aligncenter size-full wp-image-174459\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/My-gene2.png\" alt=\"My gene2\" width=\"627\" height=\"264\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/05/My-gene2.png 627w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/My-gene2-400x168.png 400w\" sizes=\"(max-width: 627px) 100vw, 627px\">\u003c/a>\u003c/p>\n\u003cp>Now Bigelow and Milo Lorentzen’s parents are registered on MyGene2, where roughly 130 families are seeking information on mutations in more than \u003ca href=\"https://www.mygene2.org/MyGene2/genes\" target=\"_blank\">100 genes\u003c/a>.\u003c/p>\n\u003cp>Bamshad envisions expanding that to tens of thousands of families.\u003c/p>\n\u003cp>\"Our major goal is gene discovery and facilitating clinical diagnosis,” he says. “Very quickly, we could identify hundreds of Mendelian conditions and help thousands of families get a diagnosis for rare diseases.”\u003c/p>\n\u003cp>The main stumbling block is money to pay for outreach, Bamshad says. Tens of thousands of exome sequences are siloed at individual labs and clinics around the country. Because of federal privacy laws, the only people who can share those are the families who had them commissioned.\u003c/p>\n\u003cp>“We see lots of families on Facebook who are searching for a diagnosis,” says geneticist \u003ca href=\"https://depts.washington.edu/genediv/directory/jchong\" target=\"_blank\">Jessica Chong\u003c/a>, MyGene2 cofounder. “It would take time to go search for them and message each one of them to say, ‘We can help you.’”\u003c/p>\n\u003cfigure id=\"attachment_174559\" class=\"wp-caption aligncenter\" style=\"max-width: 718px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/05/Tess-track-e1464741655230.jpg\">\u003cimg class=\"size-full wp-image-174559\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/05/Tess-track-e1464741655230.jpg\" alt=\"Tess Bigelow stomps it out on the track where she competed in the Special Olympics.\" width=\"718\" height=\"590\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/05/Tess-track-e1464741655230.jpg 718w, https://ww2.kqed.org/app/uploads/sites/13/2016/05/Tess-track-e1464741655230-400x329.jpg 400w\" sizes=\"(max-width: 718px) 100vw, 718px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Tess Bigelow stomps it out on the track where she\u003ca href=\"http://www.portlandrootsmedia.com/strongerpodcast/2016/5/4/68-special-is-an-understatement\" target=\"_blank\"> prepares to compete \u003c/a>in the Special Olympics. \u003ccite>(Bo Bigelow)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Dr. Christian Schaaf, who's working with Tess Bigelow's mutation, says it has typically taken 15-20 years from the time a disease gene has been discovered until the first patients enter clinical trials. He's hoping new sequencing tools and social outreach can shrink that to seven or eight years.\u003c/p>\n\u003cp>Milo's parents hope that new research will give them more answers. They found a U.S. lab that's agreed to grow cell lines from Milo's and his father's DNA, and another lab in Europe is looking to run studies using the gene-editing tool CRISPR.\u003c/p>\n\u003cp>If the labs can replicate Milo's mutation and study its effects, perhaps Karen Park and Peter Lorentzen will learn more about how the mutation leads to his disorder. From there, will some lab be willing to look at developing a treatment? They don't know.\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>\"It's all us flying blind and making it up as we go along,\" says Park.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/170565/amid-intense-isolation-stirrings-of-hope-for-families-with-rarest-genetic-mutations","authors":["235"],"categories":["futureofyou_1","futureofyou_73"],"tags":["futureofyou_940","futureofyou_156","futureofyou_941","futureofyou_939","futureofyou_942"],"featImg":"futureofyou_174414","label":"source_futureofyou_170565"},"news_119239":{"type":"posts","id":"news_119239","meta":{"index":"posts_1591205157","site":"news","id":"119239","score":null,"sort":[1385403561000]},"guestAuthors":[],"slug":"fda-tells-23andme-to-halt-sales-of-gene-testing-service","title":"FDA Tells 23andMe to Halt Sales of Gene-Testing Service ","publishDate":1385403561,"format":"aside","headTitle":"News Fix | KQED News","labelTerm":{"term":6944,"site":"news"},"content":"\u003cp>The U.S. Food and Drug Administration is ordering Mountain View-based \u003ca href=\"https://www.23andMe.com/\" target=\"_blank\">23andme\u003c/a> to end sales of a $99 DNA collection kit the company markets as a way to screen for more than 240 diseases. \u003c/p>\n\u003cp>A \u003ca href=\"http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/2013/ucm376296.htm\" target=\"_blank\">Nov. 22 FDA letter\u003c/a> says 23andMe has gone ahead with sales of its DNA Saliva Collection Kit and Personal Genome Service even though regulators have raised concerns about the company's claims about the product's ability to detect genetic susceptibility to some diseases.\u003c/p>\n\u003cp>\u003ca href=\"http://ww2.kqed.org/news/2013/11/25/fda-tells-23andme-to-halt-sales-of-gene-testing-service/23andmelogomagentalime/\" rel=\"attachment wp-att-119240\">\u003cimg src=\"http://ww2.kqed.org/news/wp-content/uploads/sites/10/2013/11/23andmelogomagentalime-640x346.jpg\" alt=\"23andme logo \" width=\"320\" height=\"173\" class=\"alignright size-medium wp-image-119240\">\u003c/a>The company's website says, \"Our genes make us who we are, so naturally they impact our health. By knowing your DNA, you can take steps toward living a healthier life.\" The site says the 23andMe \"spit kit\" can help people learn whether they carry dangerous genes, such as the \u003ca href=\"http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA\" target=\"_blank\">BRCA genes\u003c/a> linked to a dramatically heightened risk of breast cancer and ovarian cancer. 23andMe also says its DNA analysis can help detect users' sensitivity to drugs that might be used to fight the cancer. \u003c/p>\n\u003cp>The FDA noted that 23andMe's inclusion of BRCA analysis is \"particularly concerning\" since false positives and false negatives are potentially lethal:\u003c/p>\n\u003cblockquote>\u003cp>For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist. Assessments for drug responses carry the risks that patients relying on such tests may begin to self-manage their treatments through dose changes or even abandon certain therapies depending on the outcome of the assessment.\u003c/p>\u003c/blockquote>\n\u003cp>23andMe was founded by Anne Wojcicki, \u003ca href=\"http://allthingsd.com/20130828/google-co-founder-sergey-brin-and-23andme-co-founder-anne-wojcicki-have-split/\" target=\"_blank\">the currently separated wife\u003c/a> of Google founder Sergey Brin, and is backed by the search and advertising giant. In a statement this morning, the company acknowledged it had failed to answer FDA concerns about the Saliva Collection Kit and Personal Genome Service:\u003c/p>\n\u003cblockquote>\u003cp>We have received the warning letter from the Food and Drug Administration. We recognize that we have not met the FDA's expectations regarding timeline and communication regarding our submission. Our relationship with the FDA is extremely important to us and we are committed to fully engaging with them to address their concerns. \u003c/p>\u003c/blockquote>\n\u003cp>The FDA's letter demands that 23andMe halt sales of the product until it gets marketing approval. As of this morning, the Saliva Collection Kit and Personal Genome Service appears to still be available for purchase. \u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\u003cp>\u003c/p>\n","blocks":[],"excerpt":"Federal regulators say the Mountain View company has failed to answer concerns about DNA testing kit. ","status":"publish","parent":0,"modified":1385403781,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":10,"wordCount":412},"headData":{"title":"FDA Tells 23andMe to Halt Sales of Gene-Testing Service | KQED","description":"Federal regulators say the Mountain View company has failed to answer concerns about DNA testing kit. ","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"119239 http://ww2.kqed.org/news/?p=119239","disqusUrl":"https://ww2.kqed.org/news/2013/11/25/fda-tells-23andme-to-halt-sales-of-gene-testing-service/","disqusTitle":"FDA Tells 23andMe to Halt Sales of Gene-Testing Service ","path":"/news/119239/fda-tells-23andme-to-halt-sales-of-gene-testing-service","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>The U.S. Food and Drug Administration is ordering Mountain View-based \u003ca href=\"https://www.23andMe.com/\" target=\"_blank\">23andme\u003c/a> to end sales of a $99 DNA collection kit the company markets as a way to screen for more than 240 diseases. \u003c/p>\n\u003cp>A \u003ca href=\"http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/2013/ucm376296.htm\" target=\"_blank\">Nov. 22 FDA letter\u003c/a> says 23andMe has gone ahead with sales of its DNA Saliva Collection Kit and Personal Genome Service even though regulators have raised concerns about the company's claims about the product's ability to detect genetic susceptibility to some diseases.\u003c/p>\n\u003cp>\u003ca href=\"http://ww2.kqed.org/news/2013/11/25/fda-tells-23andme-to-halt-sales-of-gene-testing-service/23andmelogomagentalime/\" rel=\"attachment wp-att-119240\">\u003cimg src=\"http://ww2.kqed.org/news/wp-content/uploads/sites/10/2013/11/23andmelogomagentalime-640x346.jpg\" alt=\"23andme logo \" width=\"320\" height=\"173\" class=\"alignright size-medium wp-image-119240\">\u003c/a>The company's website says, \"Our genes make us who we are, so naturally they impact our health. By knowing your DNA, you can take steps toward living a healthier life.\" The site says the 23andMe \"spit kit\" can help people learn whether they carry dangerous genes, such as the \u003ca href=\"http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA\" target=\"_blank\">BRCA genes\u003c/a> linked to a dramatically heightened risk of breast cancer and ovarian cancer. 23andMe also says its DNA analysis can help detect users' sensitivity to drugs that might be used to fight the cancer. \u003c/p>\n\u003cp>The FDA noted that 23andMe's inclusion of BRCA analysis is \"particularly concerning\" since false positives and false negatives are potentially lethal:\u003c/p>\n\u003cblockquote>\u003cp>For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist. Assessments for drug responses carry the risks that patients relying on such tests may begin to self-manage their treatments through dose changes or even abandon certain therapies depending on the outcome of the assessment.\u003c/p>\u003c/blockquote>\n\u003cp>23andMe was founded by Anne Wojcicki, \u003ca href=\"http://allthingsd.com/20130828/google-co-founder-sergey-brin-and-23andme-co-founder-anne-wojcicki-have-split/\" target=\"_blank\">the currently separated wife\u003c/a> of Google founder Sergey Brin, and is backed by the search and advertising giant. In a statement this morning, the company acknowledged it had failed to answer FDA concerns about the Saliva Collection Kit and Personal Genome Service:\u003c/p>\n\u003cblockquote>\u003cp>We have received the warning letter from the Food and Drug Administration. We recognize that we have not met the FDA's expectations regarding timeline and communication regarding our submission. Our relationship with the FDA is extremely important to us and we are committed to fully engaging with them to address their concerns. \u003c/p>\u003c/blockquote>\n\u003cp>The FDA's letter demands that 23andMe halt sales of the product until it gets marketing approval. As of this morning, the Saliva Collection Kit and Personal Genome Service appears to still be available for purchase. \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>\u003cp>\u003c/p>\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/news/119239/fda-tells-23andme-to-halt-sales-of-gene-testing-service","authors":["222"],"programs":["news_6944"],"categories":["news_356","news_248"],"tags":["news_5157","news_2331","news_5155","news_5156"],"featImg":"news_119240","label":"news_6944"}},"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/2023/08/possible-5gxfizEbKOJ-pbF5ASgxrs_.1400x1400.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. 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/2021/10/ATC_1400.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://ww2.kqed.org/news/wp-content/uploads/sites/10/powerpress/1440_0018_AmericanSuburb_iTunesTile_01.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://ww2.kqed.org/news/wp-content/uploads/sites/10/powerpress/1440_0017_BayCurious_iTunesTile_01.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://ww2.kqed.org/app/uploads/2021/10/BBC_1400.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/2021/12/CodeSwitchLifeKit_StationGraphics_300x300EmailGraphic.png","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. 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The result is stories that inform and inspire, arming our listeners with information to right injustices, hold the powerful accountable and improve lives.Reveal is hosted by Al Letson and showcases the award-winning work of CIR and newsrooms large and small across the nation. In a radio and podcast market crowded with choices, Reveal focuses on important and often surprising stories that illuminate the world for our listeners.","airtime":"SAT 4pm-5pm","imageSrc":"https://ww2.kqed.org/radio/wp-content/uploads/sites/50/2018/04/reveal300px.png","officialWebsiteLink":"https://www.revealnews.org/episodes/","meta":{"site":"news","source":"npr"},"link":"/radio/program/reveal","subscribe":{"apple":"https://itunes.apple.com/us/podcast/reveal/id886009669","tuneIn":"https://tunein.com/radio/Reveal-p679597/","rss":"http://feeds.revealradio.org/revealpodcast"}},"says-you":{"id":"says-you","title":"Says You!","info":"Public radio's game show of bluff and bluster, words and whimsy. 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