Capturing the Sound of Depression in the Human Voice
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The software works as a screening tool to flag patients whose speech matches the voice patterns of depressed individuals, alerting clinicians to follow up with a full diagnostic interview.\u003c/p>\n\u003cp>Meanwhile, Boston's \u003ca href=\"http://www.cogitocorp.com/\" target=\"_blank\" rel=\"noopener\">Cogito\u003c/a> has developed an app to use metadata from patients' phones to alert health care providers about sudden changes in behavior that might be linked to mental health.\u003c/p>\n\u003cp>\u003cstrong>Difficulty of Diagnosis\u003c/strong>\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>One reason for the lack of treatment for mental illness is that conditions like depression, anxiety and post‐traumatic stress disorder are difficult to diagnose.\u003c/p>\n\u003cp>There are no biological markers of mental illness that can be picked up in a blood test or a brain scan, so physicians must rely on patients’ self‐reports of their symptoms and on mental health questionnaires.\u003c/p>\n\u003cp>But self‐reporting and doctor observations can be highly subjective. Low energy, for example, can be a sign of depression, a normal response to a busy schedule, or an indicator of hypothyroidism. Subsequently, many physicians miss or misdiagnose psychiatric disorders; one \u003ca href=\"http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(09)60879-5/abstract\" target=\"_blank\" rel=\"noopener\">study \u003c/a>found that primary care doctors correctly identify depression in patients only 50 percent of the time.\u003c/p>\n\u003cp>However, there are a few consistent physiological changes that take place in the body when something is off in your brain. Some researchers think these types of changes could be used as objective flags for mental illness.\u003c/p>\n\u003cp>\u003cstrong>It’s Not What You Say, But How You Say It\u003c/strong>\u003c/p>\n\u003cp>When someone is depressed, their range of pitch and volume drop, so they tend to speak \u003ca href=\"http://ieeexplore.ieee.org/document/7117386/?reload=true\" target=\"_blank\" rel=\"noopener\">lower, flatter and softer\u003c/a>. Speech also sounds labored, with more pauses, starts and stops. Another key indicator is the tension or relaxation of the vocal cords, which can make speech sound strained or breathy. Too much tension or relaxation has been linked to depression and \u003ca href=\"http://ieeexplore.ieee.org/document/7384418/\" target=\"_blank\" rel=\"noopener\">suicide risk\u003c/a>. Depressed patients’ tongues and breath may also become uncoordinated, resulting in a slight slurring of speech.\u003c/p>\n\u003cp>These types of vocal traits — called paraverbal features — are detectable in other mental illnesses too, including bipolar and post‐traumatic stress disorder.\u003c/p>\n\u003cp>Researchers have been studying these different paraverbal patterns for over a decade, but they’ve only recently been able to make use of them with the rise of advanced computer analytics. Some of the qualities are noticeable to a trained ear, but others are more subtle.\u003c/p>\n\u003cp>Computer algorithms can pick up on differences in tone that a human might miss, and they can also quantify them. This technology helps clinicians track patients over time by comparing individuals to their own baselines, particularly important if a person has a naturally deep or breathy voice that is not indicative of depression.\u003c/p>\n\u003cp>“There’s no doubt that paraverbal features can be helpful in making clinical diagnoses,” says Danielle Ramo, an assistant professor of psychiatry at UCSF who is not affiliated with either company. “To the extent that machines are able to take advantage of paraverbal features in communication, that is a step forward in using machines to inform clinical diagnoses or treatment planning.”\u003c/p>\n\u003cp>Ellipsis used these vocal traits to create its tool. The program was initially trained by taking millions of conversations between nondepressed individuals and mining them for key features in speech patterns, such as pitch, cadence and enunciation. Data scientists then added conversations, data from mental health questionnaires and clinical information, all from depressed patients. That trained the software to identify vocal features indicative of depression.\u003c/p>\n\u003cp>One potential benefit of the Ellipsis program is that it could alert physicians if their patients may be depressed, even if that’s not the reason they went to the doctor in the first place.\u003c/p>\n\u003cp>“There are a lot of problems in the process of screening for mental health disorders,\" says Mark Richman, medical director of the Disease Management Program at Northwell Health, a health network in Long Island and New York City that is in talks with Ellipsis to use its program. \"Some of that has to do with limited sensitivity of the tools that are used to do that, some of it has to do with limited time to address and identify mental health disorders.”\u003c/p>\n\u003cp>Richman says he hopes a tool like the one from Ellipsis will help doctors catch patients who might otherwise fall through the cracks, but without taking up valuable face time in the exam room.\u003c/p>\n\u003cp>Ellipsis founder and CEO Mainul Mondal says that making doctor appointments more efficient was a key focus for the company.\u003c/p>\n\u003cp>“People like talking to their health teams. They feel loyalty\u003cbr>\nand the trust is there, and they’re already having the conversations,” he says.\u003c/p>\n\u003cp>By capturing and utilizing the conversation — with the patient’s consent — clinicians could screen every patient for depression without taking up extra time, following up with only those who are flagged as high risk.\u003c/p>\n\u003cp>Integrating the software into the normal flow of a doctor’s visit is the next step, says Elizabeth Shriberg, the Ellipsis chief scientific officer. Including Northwell, Ellipsis is now in talks with other large health care providers around the country to introduce the program into exam rooms, the company says.\u003c/p>\n\u003cp>\u003cstrong>Monitoring From Afar\u003c/strong>\u003c/p>\n\u003cp>Other physicians want to use voice and behavior analysis technology to learn more about what happens to patients when they’re \u003cem>outside\u003c/em> the exam room.\u003c/p>\n\u003cfigure id=\"attachment_436000\" class=\"wp-caption alignright\" style=\"max-width: 248px\">\u003ca href=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/10/companion-2-0-android-Home-1.png\">\u003cimg class=\"wp-image-436000 \" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/10/companion-2-0-android-Home-1-800x1422.png\" alt=\"\" width=\"248\" height=\"441\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-800x1422.png 800w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-160x284.png 160w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-768x1365.png 768w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-1020x1813.png 1020w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-1180x2098.png 1180w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-960x1707.png 960w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-240x427.png 240w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-375x667.png 375w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-520x924.png 520w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1.png 1440w\" sizes=\"(max-width: 248px) 100vw, 248px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Image from the dashboard of Cogito's Companion app, meant to diagnose depression and other mental health conditions. \u003ccite>(Cogito)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>“We often get data only when people come into a clinic … and we know that there's a lot that goes on, obviously, outside of the clinic walls,” says David Ahern, director of the program in Behavioral Informatics and eHealth at Brigham and Women’s Hospital in Boston. “It's this huge unmet need of both understanding the nature of a … mental health disorder as it evolves over time and the experience of patients over time.”\u003c/p>\n\u003cp>Ahern leads a \u003ca href=\"https://clinicaltrials.gov/ct2/show/NCT02167373?term=cogito&rank=1\" target=\"_blank\" rel=\"noopener\">clinical trial\u003c/a> testing the efficacy of Cogito's Companion app. Cogito was founded eight years ago as a spin-off from the MIT Media Lab in Boston. In addition to Companion, it makes software that gives real‐time feedback to customer call centers.\u003c/p>\n\u003cp>With patients' consent, the Companion app mines background metadata from their phone, including text frequency, call logs and geolocation. Using this data, the program creates a daily score for each patient, which is sent to their care team, alerting them if sudden changes in behavior might be linked to a decline in mental health. For example, if a patient starts to text less and has fewer or shorter calls, it may signal that they’re isolating themselves. Their caregiver can then reach out immediately to see if they are all right rather than having to wait until the next visit.\u003c/p>\n\u003cp>Patients also record a short audio diary a few times a week, which the app analyzes for nonverbal markers of depression, such as tenseness or breathiness, low pitch, volume or range. These results are also included in the patient’s daily score, giving the care team several objective measures of their mental state. In addition to depression, the app is also being \u003ca href=\"https://clinicaltrials.gov/ct2/show/NCT02742064?term=cogito&rank=2\" target=\"_blank\" rel=\"noopener\">tested\u003c/a> on patients with bipolar disorder and post‐traumatic disorder, with the goal of predicting the onset of acute psychiatric episodes and suicide risk.\u003c/p>\n\u003cp>Skyler Place, vice president of behavioral science at Cogito, says he hopes doctors will use the system to be more proactive, not just in patients’ mental health care, but in their overall quality of life. In another trial for veterans at risk for post‐traumatic stress disorder and suicide, clinicians were able to detect major lifestyle changes through the app, as when one person lost his job and another became homeless.\u003c/p>\n\u003cp>“While the original goal was suicide prevention, in addition to being able to capture that risk, it’s really able to provide an overall risk score for the veteran population, and the clinicians are able to then provide the right service to these veterans in the moment when they need them.”\u003c/p>\n\u003cp>\u003cstrong>Replacing Clinicians? Not so Fast\u003c/strong>\u003c/p>\n\u003cp>As with the adoption of many new technologies, users may be reasonably concerned about privacy. Both Cogito and Ellipsis say that all the proper precautions are taken to store and protect the data, and in many cases the content of the conversations or voice recordings is irrelevant and even discarded.\u003c/p>\n\u003cp>The voice screening software is also not perfect; Cogito’s is currently about 75 percent accurate at flagging mental illness\u003cstrong> \u003c/strong>as compared to clinical interviews with mental health professionals. Ellipsis declined to state how accurate its software is.\u003c/p>\n\u003cp>Adam Miner, a clinical psychologist and instructor at\u003cbr>\nStanford University, says that, “Clinicians regularly take into account patient's tone and vocal patterns when making diagnostic decisions. If a new technology can help measure, or compare patterns over time, there is the potential to add value.” However, he cautions, there are “risks in oversimplifying the complexity of medical diagnoses.”\u003c/p>\n\u003cp>The two companies were quick to emphasize that the technology is not a replacement for human clinicians, but simply an aid or tool, akin to a blood test or an electrocardiogram.\u003c/p>\n\u003cp>“It's a buddy for health teams,” says Mondal. “It is an adviser for behavioral health; you flag patients so health systems can intervene.” After a patient is flagged as needing additional attention, either before or after diagnosis, it is still up to the clinician to administer care, an interaction that hasn’t been disrupted by artificial intelligence.\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>Yet.\u003c/p>\n\n","blocks":[],"excerpt":"One company aims to use data from patients' voices to diagnose depression, and another wants to look at patients' use of their smartphones to alert providers to possible changes in mental health.","status":"publish","parent":0,"modified":1507836868,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":40,"wordCount":1722},"headData":{"title":"Capturing the Sound of Depression in the Human Voice | KQED","description":"One company aims to use data from patients' voices to diagnose depression, and another wants to look at patients' use of their smartphones to alert providers to possible changes in mental health.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"Capturing the Sound of Depression in the Human Voice","datePublished":"2017-10-12T16:13:24.000Z","dateModified":"2017-10-12T19:34:28.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"435986 https://ww2.kqed.org/futureofyou/?p=435986","disqusUrl":"https://ww2.kqed.org/futureofyou/2017/10/12/capturing-the-sound-of-depression-in-the-human-voice/","disqusTitle":"Capturing the Sound of Depression in the Human Voice","source":"Future of You","nprByline":"Dana Smith\u003cbr />Future of You","path":"/futureofyou/435986/capturing-the-sound-of-depression-in-the-human-voice","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>In any given year, nearly 1 in 5 adults in the U.S. suffer from a mental illness, yet fewer than half of those suffering receive treatment.\u003c/p>\n\u003caside class=\"alignright\">Signs of depression in the human voice might help to diagnose mental health problems\n\u003cul>\n\u003cli>Speaking lower, flatter and softer\u003c/li>\n\u003cli>Sounding labored, with more pauses, starts and stops\u003c/li>\n\u003cli>Sounding strained or breathy\u003c/li>\n\u003c/ul>\n\u003c/aside>\n\u003cp>In an attempt to fill that gap, companies are developing digital technology to help doctors diagnose, monitor and treat psychiatric disorders.\u003c/p>\n\u003cp>The behavioral health startup Ellipsis Health, based in San Francisco, uses machine learning to analyze audio recordings of conversations between doctors and patients during exams. The software works as a screening tool to flag patients whose speech matches the voice patterns of depressed individuals, alerting clinicians to follow up with a full diagnostic interview.\u003c/p>\n\u003cp>Meanwhile, Boston's \u003ca href=\"http://www.cogitocorp.com/\" target=\"_blank\" rel=\"noopener\">Cogito\u003c/a> has developed an app to use metadata from patients' phones to alert health care providers about sudden changes in behavior that might be linked to mental health.\u003c/p>\n\u003cp>\u003cstrong>Difficulty of Diagnosis\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>One reason for the lack of treatment for mental illness is that conditions like depression, anxiety and post‐traumatic stress disorder are difficult to diagnose.\u003c/p>\n\u003cp>There are no biological markers of mental illness that can be picked up in a blood test or a brain scan, so physicians must rely on patients’ self‐reports of their symptoms and on mental health questionnaires.\u003c/p>\n\u003cp>But self‐reporting and doctor observations can be highly subjective. Low energy, for example, can be a sign of depression, a normal response to a busy schedule, or an indicator of hypothyroidism. Subsequently, many physicians miss or misdiagnose psychiatric disorders; one \u003ca href=\"http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(09)60879-5/abstract\" target=\"_blank\" rel=\"noopener\">study \u003c/a>found that primary care doctors correctly identify depression in patients only 50 percent of the time.\u003c/p>\n\u003cp>However, there are a few consistent physiological changes that take place in the body when something is off in your brain. Some researchers think these types of changes could be used as objective flags for mental illness.\u003c/p>\n\u003cp>\u003cstrong>It’s Not What You Say, But How You Say It\u003c/strong>\u003c/p>\n\u003cp>When someone is depressed, their range of pitch and volume drop, so they tend to speak \u003ca href=\"http://ieeexplore.ieee.org/document/7117386/?reload=true\" target=\"_blank\" rel=\"noopener\">lower, flatter and softer\u003c/a>. Speech also sounds labored, with more pauses, starts and stops. Another key indicator is the tension or relaxation of the vocal cords, which can make speech sound strained or breathy. Too much tension or relaxation has been linked to depression and \u003ca href=\"http://ieeexplore.ieee.org/document/7384418/\" target=\"_blank\" rel=\"noopener\">suicide risk\u003c/a>. Depressed patients’ tongues and breath may also become uncoordinated, resulting in a slight slurring of speech.\u003c/p>\n\u003cp>These types of vocal traits — called paraverbal features — are detectable in other mental illnesses too, including bipolar and post‐traumatic stress disorder.\u003c/p>\n\u003cp>Researchers have been studying these different paraverbal patterns for over a decade, but they’ve only recently been able to make use of them with the rise of advanced computer analytics. Some of the qualities are noticeable to a trained ear, but others are more subtle.\u003c/p>\n\u003cp>Computer algorithms can pick up on differences in tone that a human might miss, and they can also quantify them. This technology helps clinicians track patients over time by comparing individuals to their own baselines, particularly important if a person has a naturally deep or breathy voice that is not indicative of depression.\u003c/p>\n\u003cp>“There’s no doubt that paraverbal features can be helpful in making clinical diagnoses,” says Danielle Ramo, an assistant professor of psychiatry at UCSF who is not affiliated with either company. “To the extent that machines are able to take advantage of paraverbal features in communication, that is a step forward in using machines to inform clinical diagnoses or treatment planning.”\u003c/p>\n\u003cp>Ellipsis used these vocal traits to create its tool. The program was initially trained by taking millions of conversations between nondepressed individuals and mining them for key features in speech patterns, such as pitch, cadence and enunciation. Data scientists then added conversations, data from mental health questionnaires and clinical information, all from depressed patients. That trained the software to identify vocal features indicative of depression.\u003c/p>\n\u003cp>One potential benefit of the Ellipsis program is that it could alert physicians if their patients may be depressed, even if that’s not the reason they went to the doctor in the first place.\u003c/p>\n\u003cp>“There are a lot of problems in the process of screening for mental health disorders,\" says Mark Richman, medical director of the Disease Management Program at Northwell Health, a health network in Long Island and New York City that is in talks with Ellipsis to use its program. \"Some of that has to do with limited sensitivity of the tools that are used to do that, some of it has to do with limited time to address and identify mental health disorders.”\u003c/p>\n\u003cp>Richman says he hopes a tool like the one from Ellipsis will help doctors catch patients who might otherwise fall through the cracks, but without taking up valuable face time in the exam room.\u003c/p>\n\u003cp>Ellipsis founder and CEO Mainul Mondal says that making doctor appointments more efficient was a key focus for the company.\u003c/p>\n\u003cp>“People like talking to their health teams. They feel loyalty\u003cbr>\nand the trust is there, and they’re already having the conversations,” he says.\u003c/p>\n\u003cp>By capturing and utilizing the conversation — with the patient’s consent — clinicians could screen every patient for depression without taking up extra time, following up with only those who are flagged as high risk.\u003c/p>\n\u003cp>Integrating the software into the normal flow of a doctor’s visit is the next step, says Elizabeth Shriberg, the Ellipsis chief scientific officer. Including Northwell, Ellipsis is now in talks with other large health care providers around the country to introduce the program into exam rooms, the company says.\u003c/p>\n\u003cp>\u003cstrong>Monitoring From Afar\u003c/strong>\u003c/p>\n\u003cp>Other physicians want to use voice and behavior analysis technology to learn more about what happens to patients when they’re \u003cem>outside\u003c/em> the exam room.\u003c/p>\n\u003cfigure id=\"attachment_436000\" class=\"wp-caption alignright\" style=\"max-width: 248px\">\u003ca href=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/10/companion-2-0-android-Home-1.png\">\u003cimg class=\"wp-image-436000 \" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/10/companion-2-0-android-Home-1-800x1422.png\" alt=\"\" width=\"248\" height=\"441\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-800x1422.png 800w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-160x284.png 160w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-768x1365.png 768w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-1020x1813.png 1020w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-1180x2098.png 1180w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-960x1707.png 960w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-240x427.png 240w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-375x667.png 375w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1-520x924.png 520w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/companion-2-0-android-Home-1.png 1440w\" sizes=\"(max-width: 248px) 100vw, 248px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Image from the dashboard of Cogito's Companion app, meant to diagnose depression and other mental health conditions. \u003ccite>(Cogito)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>“We often get data only when people come into a clinic … and we know that there's a lot that goes on, obviously, outside of the clinic walls,” says David Ahern, director of the program in Behavioral Informatics and eHealth at Brigham and Women’s Hospital in Boston. “It's this huge unmet need of both understanding the nature of a … mental health disorder as it evolves over time and the experience of patients over time.”\u003c/p>\n\u003cp>Ahern leads a \u003ca href=\"https://clinicaltrials.gov/ct2/show/NCT02167373?term=cogito&rank=1\" target=\"_blank\" rel=\"noopener\">clinical trial\u003c/a> testing the efficacy of Cogito's Companion app. Cogito was founded eight years ago as a spin-off from the MIT Media Lab in Boston. In addition to Companion, it makes software that gives real‐time feedback to customer call centers.\u003c/p>\n\u003cp>With patients' consent, the Companion app mines background metadata from their phone, including text frequency, call logs and geolocation. Using this data, the program creates a daily score for each patient, which is sent to their care team, alerting them if sudden changes in behavior might be linked to a decline in mental health. For example, if a patient starts to text less and has fewer or shorter calls, it may signal that they’re isolating themselves. Their caregiver can then reach out immediately to see if they are all right rather than having to wait until the next visit.\u003c/p>\n\u003cp>Patients also record a short audio diary a few times a week, which the app analyzes for nonverbal markers of depression, such as tenseness or breathiness, low pitch, volume or range. These results are also included in the patient’s daily score, giving the care team several objective measures of their mental state. In addition to depression, the app is also being \u003ca href=\"https://clinicaltrials.gov/ct2/show/NCT02742064?term=cogito&rank=2\" target=\"_blank\" rel=\"noopener\">tested\u003c/a> on patients with bipolar disorder and post‐traumatic disorder, with the goal of predicting the onset of acute psychiatric episodes and suicide risk.\u003c/p>\n\u003cp>Skyler Place, vice president of behavioral science at Cogito, says he hopes doctors will use the system to be more proactive, not just in patients’ mental health care, but in their overall quality of life. In another trial for veterans at risk for post‐traumatic stress disorder and suicide, clinicians were able to detect major lifestyle changes through the app, as when one person lost his job and another became homeless.\u003c/p>\n\u003cp>“While the original goal was suicide prevention, in addition to being able to capture that risk, it’s really able to provide an overall risk score for the veteran population, and the clinicians are able to then provide the right service to these veterans in the moment when they need them.”\u003c/p>\n\u003cp>\u003cstrong>Replacing Clinicians? Not so Fast\u003c/strong>\u003c/p>\n\u003cp>As with the adoption of many new technologies, users may be reasonably concerned about privacy. Both Cogito and Ellipsis say that all the proper precautions are taken to store and protect the data, and in many cases the content of the conversations or voice recordings is irrelevant and even discarded.\u003c/p>\n\u003cp>The voice screening software is also not perfect; Cogito’s is currently about 75 percent accurate at flagging mental illness\u003cstrong> \u003c/strong>as compared to clinical interviews with mental health professionals. Ellipsis declined to state how accurate its software is.\u003c/p>\n\u003cp>Adam Miner, a clinical psychologist and instructor at\u003cbr>\nStanford University, says that, “Clinicians regularly take into account patient's tone and vocal patterns when making diagnostic decisions. If a new technology can help measure, or compare patterns over time, there is the potential to add value.” However, he cautions, there are “risks in oversimplifying the complexity of medical diagnoses.”\u003c/p>\n\u003cp>The two companies were quick to emphasize that the technology is not a replacement for human clinicians, but simply an aid or tool, akin to a blood test or an electrocardiogram.\u003c/p>\n\u003cp>“It's a buddy for health teams,” says Mondal. “It is an adviser for behavioral health; you flag patients so health systems can intervene.” After a patient is flagged as needing additional attention, either before or after diagnosis, it is still up to the clinician to administer care, an interaction that hasn’t been disrupted by artificial intelligence.\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>Yet.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/435986/capturing-the-sound-of-depression-in-the-human-voice","authors":["byline_futureofyou_435986"],"categories":["futureofyou_452","futureofyou_1062","futureofyou_1","futureofyou_73"],"tags":["futureofyou_849","futureofyou_592","futureofyou_734","futureofyou_1275","futureofyou_1375"],"featImg":"futureofyou_436004","label":"source_futureofyou_435986"},"futureofyou_370957":{"type":"posts","id":"futureofyou_370957","meta":{"index":"posts_1591205157","site":"futureofyou","id":"370957","score":null,"sort":[1496438545000]},"guestAuthors":[],"slug":"facial-recognition-of-genetic-disease-needs-more-non-white-photos","title":"For Facial Recognition of Diseases: More Non-White Photos Needed","publishDate":1496438545,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{"site":"futureofyou"},"content":"\u003cp>Dr. Maximilian Muenke has a superpower: He can diagnose disease just by looking at a person’s face.\u003c/p>\n\u003cp>Specifically, he can spot certain genetic disorders that make telltale impressions on facial features.\u003c/p>\n\u003cp>“Once you’ve done it for a certain amount of years, you walk into a room and it’s like, oh, that child has Williams syndrome,” he said, referring to a genetic disorder that can affect a person’s cognitive abilities and heart.\u003c/p>\n\u003cp class=\"danger-zone\">And that’s an incredibly useful skill, even as genetic sequencing becomes more widespread. For one thing, it can be the factor that sends someone to get a genetic test in the first place. For another, people in many parts of the world don’t have access to genetic tests at all.\u003c/p>\n\u003cp class=\"\">That’s inspired years of effort to train a computer to do the same thing. Software that analyzes a patient’s face for signs of disease could help clinicians better diagnose and treat people with genetic syndromes.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp class=\"\">Some older attempts at facial analysis relied on large, clunky scanners — a tool better suited to a lab, not the field. Now, in the era of smartphones, such efforts have a whole new promise. Face2Gene, a program developed by Boston-based startup FDNA, has a mobile app that clinicians can use to snap photos of their patients and get a list of syndromes they might have.\u003c/p>\n\u003cp>Meanwhile, Muenke and his colleagues at the NIH last month published an important advance: the ability to diagnose disease in a non-Caucasian face.\u003c/p>\n\u003cp>It’s a promising preliminary sign. But if facial recognition software is to be widely useful for diagnoses, software developers and geneticists will need to work together to overcome genetics’ systemic blind spots.\u003c/p>\n\u003cp>\u003cstrong>Diagnoses vs. Probabilities\u003c/strong>\u003c/p>\n\u003cp>The algorithms in general work on the same principles: measuring the size of facial features and their placement to detect patterns. They’re both trained on databases of photographs doctors take of their patients. The NIH works with partners around the world to collect their photos; FDNA accepts photos uploaded to Face2Gene.\u003c/p>\n\u003cp>But they differ in a key way: Whereas the algorithm the NIH uses can predict if someone has a given genetic disorder, the Face2Gene algorithm spits out not diagnoses, but probabilities. The app describes photos as being a certain percent similar to photos of people with one of the 2,000 disorders for which Face2Gene has image data, based on the overall “look” of the face as well as the presence of certain features. However, the app won’t give clinicians a yes or no answer to the question of, “Does my patient have a genetic disorder?”\u003c/p>\n\u003caside class=\"pullquote alignright\">The ultimate goal would be a simple tool that any doctor could use anywhere to get fast results and better diagnose their patients.\u003c/aside>\n\u003cp>“We are not a diagnostic tool, and we will never be a diagnostic tool,” said FDNA CEO Dekel Gelbman.\u003c/p>\n\u003cp>That’s intentional. Face2Gene is meant to be more like a search engine for diseases — a means to an end.\u003c/p>\n\u003cp>Drawing that bright line between Face2Gene and “a diagnostic tool” allows FDNA to stay compliant with FDA regulations governing mobile medical apps while avoiding some of the regulatory burden associated with smartphone-based diagnostic tools.\u003c/p>\n\u003cp>\u003cstrong>Diversity needed\u003c/strong>\u003c/p>\n\u003cp>The algorithm the NIH uses — developed by scientists at Children’s National Health System in Washington, D.C., — seems to work pretty well so far: In 129 cases of Down syndrome, it accurately detected the disorder 94 percent of the time. For DiGeorge syndrome, the numbers were even higher: It had a 95 percent accuracy rate across all 156 cases.\u003c/p>\n\u003cp>Face2Gene declined to provide similar numbers for their technology. “Since Face2Gene is a search and reference informational tool, the terms sensitivity and specificity are difficult to apply to our output,” Gelbman cautioned.\u003c/p>\n\u003cp>But there’s one big stumbling block for both of them, a problem that has dogged medical genetics for decades: Data for non-white populations is sorely lacking.\u003c/p>\n\u003caside class=\"pullquote alignright\">'[My boss] said, there have to be atlases for children from diverse backgrounds. And there aren't. There just aren't.'\u003ccite>Dr. Maximilian Muenke, National Human Genome Research Institute\u003c/cite>\u003c/aside>\n\u003cp>“In every single textbook, the ones we had [when I trained] in Germany and the major textbooks here in the U.S., there are photos of individuals of northern European descent,” Muenke said. “When I told this to my boss, he said there have to be atlases for children from diverse backgrounds. And there aren’t. There just aren’t.” (Today \u003ca href=\"https://research.nhgri.nih.gov/atlas/\" target=\"_blank\" rel=\"noopener noreferrer\">there is\u003c/a> that resource, based on Muenke and the NIH’s work.)\u003c/p>\n\u003cp>So diagnosing diseases from a face alone presents an additional challenge in countries where the majority of the population isn’t of northern European descent, because some facial areas that vary with ethnic background can often overlap with areas that signify a genetic disorder. Eventually, the software will also have to be able to tackle people with mixed ethnic backgrounds, too. “We have thought about it but haven’t gone there yet,” Muenke said.\u003c/p>\n\u003cp>For example, children with Down syndrome often have flat nasal bridges — as do typically developing African or African-American children. Across different races and ethnicities of children there were only two reliable identifiers that could be used to diagnose Down syndrome — the angles between landmark points on the child’s nose and eye, according to a paper Muenke and Marius Linguraru at Children’s National published with their colleagues earlier this year. All of the other “typical” features weren’t significantly more likely to show up when children were compared to ethnically matched controls.\u003c/p>\n\u003cp>In fact, using a Caucasian face as a reference can sometimes be the least representative choice. “One of the findings that I’m very interested in [in] our recent study was that the population that we found to be most different from the others, in terms of facial patterns characteristic of DiGeorge syndrome, was the Caucasian population,” Linguraru said.\u003c/p>\n\u003cp>To continue to fix this problem, both the NIH and Face2Gene need help from more researchers who can upload more patients’ faces — but that’s easier said than done. Confirming a suspected disorder with genetic tests is standard practice today, and there are no genetic labs based in Africa registered in the NIH’s Genetic Testing Registry. Asia and South America are also relatively underserved. [contextly_sidebar id=\"wT5Uz8J7FhxEC1R7bA17oSEBTeV3HZeA\"]\u003c/p>\n\u003cp>Those numbers also reflect the general patterns of distribution for medical geneticists. “Most practitioners are located in North America and Europe,” Gelbman said. Nigeria, for example, doesn’t have a single medical geneticist in the entire country.\u003c/p>\n\u003cp>It’s possible that might change, with time and effort. In addition to his work as a researcher, Muenke directs a program that brings health care professionals from developing countries to the U.S. for a month-long crash course in medical genetics. (The program is funded by the NIH’s Fogarty International Center; President Trump \u003ca href=\"https://www.statnews.com/2017/03/16/nih-fogarty-center/\" target=\"_blank\" rel=\"noopener noreferrer\">eliminated funding for the center\u003c/a> in his 2018 “skinny” budget proposal announced in March.)\u003c/p>\n\u003cp>For now, both algorithms have shown that they can handle a diverse patient set. FDNA scientists published a paper in January showing that their algorithm could better identify Down syndrome after being trained with a more diverse set of faces, and Muenke and Linguraru have also published papers this year demonstrating their algorithm’s ability to identify genetic disorders correctly in children across a variety of ethnic backgrounds.\u003c/p>\n\u003cp>As both groups work on recruiting more researchers, they are also working to push their tech forward. FDNA is working on establishing partnerships with pharmaceutical companies to start their commercial outreach. In theory, these partnerships could contribute to precision medicine efforts or help companies develop new therapies for rare diseases.\u003c/p>\n\u003cp>Meanwhile, Linguraru has his eyes on eventual FDA approval for the algorithm the NIH has used. The ultimate goal would be a simple tool that any doctor could use anywhere to get fast results and better diagnose their patients.\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>\u003cem>\u003cspan style=\"font-weight: 400\">This \u003ca href=\"https://ww2.kqed.org/futureofyou/2017/04/11/facial-recognition-software-can-spot-down-syndrome-in-some-population\" target=\"_blank\" rel=\"noopener noreferrer\">story\u003c/a> was originally published by STAT, an online publication of Boston Globe Media that covers health, medicine, and scientific discovery. \u003c/span>\u003c/em>\u003c/p>\n\n","blocks":[],"excerpt":"New technology can diagnose common genetic disorders, based on photographs -- but success rates drop for non-Caucasian patients. ","status":"publish","parent":0,"modified":1496441687,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":28,"wordCount":1429},"headData":{"title":"For Facial Recognition of Diseases: More Non-White Photos Needed | KQED","description":"New technology can diagnose common genetic disorders, based on photographs -- but success rates drop for non-Caucasian patients. ","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"For Facial Recognition of Diseases: More Non-White Photos Needed","datePublished":"2017-06-02T21:22:25.000Z","dateModified":"2017-06-02T22:14:47.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"370957 https://ww2.kqed.org/futureofyou/?p=370957","disqusUrl":"https://ww2.kqed.org/futureofyou/2017/06/02/facial-recognition-of-genetic-disease-needs-more-non-white-photos/","disqusTitle":"For Facial Recognition of Diseases: More Non-White Photos Needed","customPermalink":"2017/04/11/facial-recognition-software-can-spot-down-syndrome-in-some-populations/","nprByline":"Kate Sheridan\u003cBR />\u003ca href=\"https://ww2.kqed.org/futureofyou/2017/04/11/facial-recognition-software-can-spot-down-syndrome-in-some-populations\">STAT\u003c/a>","path":"/futureofyou/370957/facial-recognition-of-genetic-disease-needs-more-non-white-photos","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>Dr. Maximilian Muenke has a superpower: He can diagnose disease just by looking at a person’s face.\u003c/p>\n\u003cp>Specifically, he can spot certain genetic disorders that make telltale impressions on facial features.\u003c/p>\n\u003cp>“Once you’ve done it for a certain amount of years, you walk into a room and it’s like, oh, that child has Williams syndrome,” he said, referring to a genetic disorder that can affect a person’s cognitive abilities and heart.\u003c/p>\n\u003cp class=\"danger-zone\">And that’s an incredibly useful skill, even as genetic sequencing becomes more widespread. For one thing, it can be the factor that sends someone to get a genetic test in the first place. For another, people in many parts of the world don’t have access to genetic tests at all.\u003c/p>\n\u003cp class=\"\">That’s inspired years of effort to train a computer to do the same thing. Software that analyzes a patient’s face for signs of disease could help clinicians better diagnose and treat people with genetic syndromes.\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 class=\"\">Some older attempts at facial analysis relied on large, clunky scanners — a tool better suited to a lab, not the field. Now, in the era of smartphones, such efforts have a whole new promise. Face2Gene, a program developed by Boston-based startup FDNA, has a mobile app that clinicians can use to snap photos of their patients and get a list of syndromes they might have.\u003c/p>\n\u003cp>Meanwhile, Muenke and his colleagues at the NIH last month published an important advance: the ability to diagnose disease in a non-Caucasian face.\u003c/p>\n\u003cp>It’s a promising preliminary sign. But if facial recognition software is to be widely useful for diagnoses, software developers and geneticists will need to work together to overcome genetics’ systemic blind spots.\u003c/p>\n\u003cp>\u003cstrong>Diagnoses vs. Probabilities\u003c/strong>\u003c/p>\n\u003cp>The algorithms in general work on the same principles: measuring the size of facial features and their placement to detect patterns. They’re both trained on databases of photographs doctors take of their patients. The NIH works with partners around the world to collect their photos; FDNA accepts photos uploaded to Face2Gene.\u003c/p>\n\u003cp>But they differ in a key way: Whereas the algorithm the NIH uses can predict if someone has a given genetic disorder, the Face2Gene algorithm spits out not diagnoses, but probabilities. The app describes photos as being a certain percent similar to photos of people with one of the 2,000 disorders for which Face2Gene has image data, based on the overall “look” of the face as well as the presence of certain features. However, the app won’t give clinicians a yes or no answer to the question of, “Does my patient have a genetic disorder?”\u003c/p>\n\u003caside class=\"pullquote alignright\">The ultimate goal would be a simple tool that any doctor could use anywhere to get fast results and better diagnose their patients.\u003c/aside>\n\u003cp>“We are not a diagnostic tool, and we will never be a diagnostic tool,” said FDNA CEO Dekel Gelbman.\u003c/p>\n\u003cp>That’s intentional. Face2Gene is meant to be more like a search engine for diseases — a means to an end.\u003c/p>\n\u003cp>Drawing that bright line between Face2Gene and “a diagnostic tool” allows FDNA to stay compliant with FDA regulations governing mobile medical apps while avoiding some of the regulatory burden associated with smartphone-based diagnostic tools.\u003c/p>\n\u003cp>\u003cstrong>Diversity needed\u003c/strong>\u003c/p>\n\u003cp>The algorithm the NIH uses — developed by scientists at Children’s National Health System in Washington, D.C., — seems to work pretty well so far: In 129 cases of Down syndrome, it accurately detected the disorder 94 percent of the time. For DiGeorge syndrome, the numbers were even higher: It had a 95 percent accuracy rate across all 156 cases.\u003c/p>\n\u003cp>Face2Gene declined to provide similar numbers for their technology. “Since Face2Gene is a search and reference informational tool, the terms sensitivity and specificity are difficult to apply to our output,” Gelbman cautioned.\u003c/p>\n\u003cp>But there’s one big stumbling block for both of them, a problem that has dogged medical genetics for decades: Data for non-white populations is sorely lacking.\u003c/p>\n\u003caside class=\"pullquote alignright\">'[My boss] said, there have to be atlases for children from diverse backgrounds. And there aren't. There just aren't.'\u003ccite>Dr. Maximilian Muenke, National Human Genome Research Institute\u003c/cite>\u003c/aside>\n\u003cp>“In every single textbook, the ones we had [when I trained] in Germany and the major textbooks here in the U.S., there are photos of individuals of northern European descent,” Muenke said. “When I told this to my boss, he said there have to be atlases for children from diverse backgrounds. And there aren’t. There just aren’t.” (Today \u003ca href=\"https://research.nhgri.nih.gov/atlas/\" target=\"_blank\" rel=\"noopener noreferrer\">there is\u003c/a> that resource, based on Muenke and the NIH’s work.)\u003c/p>\n\u003cp>So diagnosing diseases from a face alone presents an additional challenge in countries where the majority of the population isn’t of northern European descent, because some facial areas that vary with ethnic background can often overlap with areas that signify a genetic disorder. Eventually, the software will also have to be able to tackle people with mixed ethnic backgrounds, too. “We have thought about it but haven’t gone there yet,” Muenke said.\u003c/p>\n\u003cp>For example, children with Down syndrome often have flat nasal bridges — as do typically developing African or African-American children. Across different races and ethnicities of children there were only two reliable identifiers that could be used to diagnose Down syndrome — the angles between landmark points on the child’s nose and eye, according to a paper Muenke and Marius Linguraru at Children’s National published with their colleagues earlier this year. All of the other “typical” features weren’t significantly more likely to show up when children were compared to ethnically matched controls.\u003c/p>\n\u003cp>In fact, using a Caucasian face as a reference can sometimes be the least representative choice. “One of the findings that I’m very interested in [in] our recent study was that the population that we found to be most different from the others, in terms of facial patterns characteristic of DiGeorge syndrome, was the Caucasian population,” Linguraru said.\u003c/p>\n\u003cp>To continue to fix this problem, both the NIH and Face2Gene need help from more researchers who can upload more patients’ faces — but that’s easier said than done. Confirming a suspected disorder with genetic tests is standard practice today, and there are no genetic labs based in Africa registered in the NIH’s Genetic Testing Registry. Asia and South America are also relatively underserved. \u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>Those numbers also reflect the general patterns of distribution for medical geneticists. “Most practitioners are located in North America and Europe,” Gelbman said. Nigeria, for example, doesn’t have a single medical geneticist in the entire country.\u003c/p>\n\u003cp>It’s possible that might change, with time and effort. In addition to his work as a researcher, Muenke directs a program that brings health care professionals from developing countries to the U.S. for a month-long crash course in medical genetics. (The program is funded by the NIH’s Fogarty International Center; President Trump \u003ca href=\"https://www.statnews.com/2017/03/16/nih-fogarty-center/\" target=\"_blank\" rel=\"noopener noreferrer\">eliminated funding for the center\u003c/a> in his 2018 “skinny” budget proposal announced in March.)\u003c/p>\n\u003cp>For now, both algorithms have shown that they can handle a diverse patient set. FDNA scientists published a paper in January showing that their algorithm could better identify Down syndrome after being trained with a more diverse set of faces, and Muenke and Linguraru have also published papers this year demonstrating their algorithm’s ability to identify genetic disorders correctly in children across a variety of ethnic backgrounds.\u003c/p>\n\u003cp>As both groups work on recruiting more researchers, they are also working to push their tech forward. FDNA is working on establishing partnerships with pharmaceutical companies to start their commercial outreach. In theory, these partnerships could contribute to precision medicine efforts or help companies develop new therapies for rare diseases.\u003c/p>\n\u003cp>Meanwhile, Linguraru has his eyes on eventual FDA approval for the algorithm the NIH has used. The ultimate goal would be a simple tool that any doctor could use anywhere to get fast results and better diagnose their patients.\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>\u003cem>\u003cspan style=\"font-weight: 400\">This \u003ca href=\"https://ww2.kqed.org/futureofyou/2017/04/11/facial-recognition-software-can-spot-down-syndrome-in-some-population\" target=\"_blank\" rel=\"noopener noreferrer\">story\u003c/a> was originally published by STAT, an online publication of Boston Globe Media that covers health, medicine, and scientific discovery. \u003c/span>\u003c/em>\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/370957/facial-recognition-of-genetic-disease-needs-more-non-white-photos","authors":["byline_futureofyou_370957"],"categories":["futureofyou_1"],"tags":["futureofyou_734","futureofyou_1248","futureofyou_1247","futureofyou_120","futureofyou_756","futureofyou_1249"],"featImg":"futureofyou_370960","label":"futureofyou"},"futureofyou_104547":{"type":"posts","id":"futureofyou_104547","meta":{"index":"posts_1591205157","site":"futureofyou","id":"104547","score":null,"sort":[1454342407000]},"guestAuthors":[],"slug":"stanford-develops-fast-affordable-genetic-test-for-newborns","title":"New Low-Cost Test For Cystic Fibrosis","publishDate":1454342407,"format":"standard","headTitle":"Future of You | KQED Future of You | KQED Science","labelTerm":{"term":54,"site":"futureofyou"},"content":"\u003cp>The bad news came on Kirsten McGowan's birthday. She was pregnant with her first child Patrick, and discovered she was a carrier for cystic fibrosis.\u003c/p>\n\u003cp>A child can only inherit the disease if both parents are carriers, and McGowan's husband also tested positive.\u003c/p>\n\u003cp>\"It hit us out of the blue,\" McGowan says.\u003c/p>\n\u003cp>The genetic disease causes mucus to build up in the lungs and digestive system. Digestive enzymes are blocked, which inhibits the absorption of food nutrients. It's a chronic illness that can't be cured, but can be treated.\u003c/p>\n\u003cp>When Patrick was born with the illness, doctors put him on a diet high in protein, fat and salt so he'd maintain a healthy weight. And they outlined a daily breathing regime of two to three hours to prevent mucus build-up in his lungs.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>\u003cimg class=\"alignright wp-image-104549\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/01/cystic-fibrosis-image.jpg\" alt=\"cystic fibrosis image\" width=\"336\" height=\"240\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/01/cystic-fibrosis-image.jpg 493w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/cystic-fibrosis-image-400x286.jpg 400w\" sizes=\"(max-width: 336px) 100vw, 336px\">Mucus builds up because CF makes it more thick and viscous.\u003c/p>\n\u003cp>The CF gene controls the movement of chloride ions in and out of cells, which regulates the salt and water balances in the lungs and pancreas. Mutations in this gene rob mucus of water and it builds up in the lungs it can inhibit breathing.\u003c/p>\n\u003cp>McGowan says detecting the illness early in Patrick meant he could get treatment right away.\u003c/p>\n\u003cp>\"Getting a diagnosis early is key,\" says McGowan. \"Knowing sooner helps you process that emotion--to be angry, to be sad--and then say, 'OK, now h\u003cspan style=\"font-weight: 400\">ow do I help my son or daughter stay healthy.\"\u003c/span>\u003c/p>\n\u003cp>CF is the most common fatal genetic disease in the United States. It takes just two CF gene mutation to cause cystic fibrosis and more than 2,000 changes are known.\u003c/p>\n\u003cp>\u003cstrong>A Rapid and Affordable New Test\u003c/strong>\u003c/p>\n\u003cp>Forty different genetic mutations account for most types of cystic fibrosis in California. The state tests for these common mutations but there are more than 2,000 possible changes, and more are discovered each year.\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">\"Current tests are not comprehensive,\" says Stanford geneticist Curt Scharfe. \u003c/span>\"They can miss newborns with two rare mutations.\"\u003c/p>\n\u003cp>Scharfe compares the CF gene mutations to typos in a novel. But imagine a really big novel, like \"War and Peace,\" with really unusual typos.\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">\"Imagine changes in a letter in a word somewhere in a book,\" says Scharfe. \"It doesn't help if you read one page very well, you need to read all these pages--or genetic changes--well. We're talking about rare typos and they happen once, not many times.\"\u003c/span>\u003c/p>\n\u003cp>Currently, the state has a tiered testing method for CF; it\u003cstrong> \u003c/strong>tests once for common mutations and send all positive results to Stanford for further testing. Stanford does about 9,000 tests a year.\u003c/p>\n\u003cp>Now, researchers at Stanford have figured out how to do \u003ca href=\"http://jmd.amjpathol.org/article/S1525-1578(15)00275-5/abstract\" target=\"_blank\">one test for CF \u003c/a>using genome sequencing. The scientists were able to sequence the entire CF gene which means they can spot any and all abnormalities.\u003c/p>\n\u003cfigure id=\"attachment_104686\" class=\"wp-caption alignright\" style=\"max-width: 800px\">\u003cimg class=\"size-medium wp-image-104686\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/01/Dried-blood-testing-800x443.jpg\" alt=\"Stanford researchers were able to take enough DNA from dried blood spots to test newborns for cystic fibrosis.\" width=\"800\" height=\"443\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/01/Dried-blood-testing-800x443.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/Dried-blood-testing-400x221.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/Dried-blood-testing-768x425.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/Dried-blood-testing-960x532.jpg 960w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/Dried-blood-testing-672x372.jpg 672w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/Dried-blood-testing.jpg 1024w\" sizes=\"(max-width: 800px) 100vw, 800px\">\u003cfigcaption class=\"wp-caption-text\">Stanford researchers were able to take enough DNA from dried blood to sequence the CF gene for cystic fibrosis. \u003ccite>(Eric T. Sheler/US Air Force)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>At birth, all infants get a heel pin-prick to test their blood for a range of diseases. Stanford researchers used blood from the test to map\u003cstrong> \u003c/strong>the CF gene. Now when they test babies, the results show whether or not a baby has a mutation on that gene.\u003c/p>\n\u003cp>The other benefit of Stanford's new test is that researchers can sequence DNA from nearly 100 babies at once in an \u003ca href=\"http://www.illumina.com/systems/miseq.html\">Illumina genome sequencing machine\u003c/a>.\u003c/p>\n\u003cp>This process takes only a few days and Scharfe hopes eventually it will only take a few hours. Current tests take longer than a week.\u003c/p>\n\u003cp>And because the process sequences the entire CF genome it won't miss mutations, even if they are extremely rare.\u003c/p>\n\u003cp>\u003cstrong>The Future for Stanford's CF Test\u003c/strong>\u003c/p>\n\u003cp>Stanford's new test is about one-fifth the cost of current CF tests. That's partially because genome sequencing has become much less expensive. Analyzing the CF gene is possible in a way that it wasn't fifty years ago.\u003c/p>\n\u003cfigure id=\"attachment_105112\" class=\"wp-caption alignright\" style=\"max-width: 338px\">\u003cimg class=\"size-medium wp-image-105112\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/01/IMG_7115-338x600.png\" alt=\"At age six, Patrick McGowan is extremely active and shows few outward signs of cystic fibrosis.\" width=\"338\" height=\"600\">\u003cfigcaption class=\"wp-caption-text\">At age six, Patrick McGowan is extremely active and shows few outward signs of cystic fibrosis. \u003ccite>(Kirsten McGowan)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>So Scharfe hopes that, eventually, the test will be used throughout the country.\u003c/p>\n\u003cp>\"California has the most comprehensive cystic fibrosis testing program and it would be very beneficial to have this new test available in many states.\"\u003c/p>\n\u003cp>Before California's statewide newborn screening program started in 1966, many kids with genetic disorders would go undiagnosed and symptoms would show up later.\u003cstrong>\u003cbr>\n\u003c/strong>\u003cbr>\nBut this hasn't been a problem for Kirsten's son Patrick.\u003c/p>\n\u003cp>\"Outwardly he looks like any other kid walking down the sidewalk,\" says McGowan.\u003c/p>\n\u003cp>She said early detection of genetic diseases is crucial.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\"The sooner you get that news, the sooner you stop thinking ‘what if’. And then can get to that good place of living with the disease.\"\u003c/p>\n\n","blocks":[],"excerpt":"Stanford University has developed a low-cost diagnostic tool for cystic fibrosis.","status":"publish","parent":0,"modified":1476936903,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":31,"wordCount":858},"headData":{"title":"New Low-Cost Test For Cystic Fibrosis | KQED","description":"Stanford University has developed a low-cost diagnostic tool for cystic fibrosis.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"New Low-Cost Test For Cystic Fibrosis","datePublished":"2016-02-01T16:00:07.000Z","dateModified":"2016-10-20T04:15:03.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"104547 http://ww2.kqed.org/futureofyou/?p=104547","disqusUrl":"https://ww2.kqed.org/futureofyou/2016/02/01/stanford-develops-fast-affordable-genetic-test-for-newborns/","disqusTitle":"New Low-Cost Test For Cystic Fibrosis","path":"/futureofyou/104547/stanford-develops-fast-affordable-genetic-test-for-newborns","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>The bad news came on Kirsten McGowan's birthday. She was pregnant with her first child Patrick, and discovered she was a carrier for cystic fibrosis.\u003c/p>\n\u003cp>A child can only inherit the disease if both parents are carriers, and McGowan's husband also tested positive.\u003c/p>\n\u003cp>\"It hit us out of the blue,\" McGowan says.\u003c/p>\n\u003cp>The genetic disease causes mucus to build up in the lungs and digestive system. Digestive enzymes are blocked, which inhibits the absorption of food nutrients. It's a chronic illness that can't be cured, but can be treated.\u003c/p>\n\u003cp>When Patrick was born with the illness, doctors put him on a diet high in protein, fat and salt so he'd maintain a healthy weight. And they outlined a daily breathing regime of two to three hours to prevent mucus build-up in his lungs.\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>\u003cimg class=\"alignright wp-image-104549\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/01/cystic-fibrosis-image.jpg\" alt=\"cystic fibrosis image\" width=\"336\" height=\"240\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/01/cystic-fibrosis-image.jpg 493w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/cystic-fibrosis-image-400x286.jpg 400w\" sizes=\"(max-width: 336px) 100vw, 336px\">Mucus builds up because CF makes it more thick and viscous.\u003c/p>\n\u003cp>The CF gene controls the movement of chloride ions in and out of cells, which regulates the salt and water balances in the lungs and pancreas. Mutations in this gene rob mucus of water and it builds up in the lungs it can inhibit breathing.\u003c/p>\n\u003cp>McGowan says detecting the illness early in Patrick meant he could get treatment right away.\u003c/p>\n\u003cp>\"Getting a diagnosis early is key,\" says McGowan. \"Knowing sooner helps you process that emotion--to be angry, to be sad--and then say, 'OK, now h\u003cspan style=\"font-weight: 400\">ow do I help my son or daughter stay healthy.\"\u003c/span>\u003c/p>\n\u003cp>CF is the most common fatal genetic disease in the United States. It takes just two CF gene mutation to cause cystic fibrosis and more than 2,000 changes are known.\u003c/p>\n\u003cp>\u003cstrong>A Rapid and Affordable New Test\u003c/strong>\u003c/p>\n\u003cp>Forty different genetic mutations account for most types of cystic fibrosis in California. The state tests for these common mutations but there are more than 2,000 possible changes, and more are discovered each year.\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">\"Current tests are not comprehensive,\" says Stanford geneticist Curt Scharfe. \u003c/span>\"They can miss newborns with two rare mutations.\"\u003c/p>\n\u003cp>Scharfe compares the CF gene mutations to typos in a novel. But imagine a really big novel, like \"War and Peace,\" with really unusual typos.\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">\"Imagine changes in a letter in a word somewhere in a book,\" says Scharfe. \"It doesn't help if you read one page very well, you need to read all these pages--or genetic changes--well. We're talking about rare typos and they happen once, not many times.\"\u003c/span>\u003c/p>\n\u003cp>Currently, the state has a tiered testing method for CF; it\u003cstrong> \u003c/strong>tests once for common mutations and send all positive results to Stanford for further testing. Stanford does about 9,000 tests a year.\u003c/p>\n\u003cp>Now, researchers at Stanford have figured out how to do \u003ca href=\"http://jmd.amjpathol.org/article/S1525-1578(15)00275-5/abstract\" target=\"_blank\">one test for CF \u003c/a>using genome sequencing. The scientists were able to sequence the entire CF gene which means they can spot any and all abnormalities.\u003c/p>\n\u003cfigure id=\"attachment_104686\" class=\"wp-caption alignright\" style=\"max-width: 800px\">\u003cimg class=\"size-medium wp-image-104686\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/01/Dried-blood-testing-800x443.jpg\" alt=\"Stanford researchers were able to take enough DNA from dried blood spots to test newborns for cystic fibrosis.\" width=\"800\" height=\"443\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/01/Dried-blood-testing-800x443.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/Dried-blood-testing-400x221.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/Dried-blood-testing-768x425.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/Dried-blood-testing-960x532.jpg 960w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/Dried-blood-testing-672x372.jpg 672w, https://ww2.kqed.org/app/uploads/sites/13/2016/01/Dried-blood-testing.jpg 1024w\" sizes=\"(max-width: 800px) 100vw, 800px\">\u003cfigcaption class=\"wp-caption-text\">Stanford researchers were able to take enough DNA from dried blood to sequence the CF gene for cystic fibrosis. \u003ccite>(Eric T. Sheler/US Air Force)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>At birth, all infants get a heel pin-prick to test their blood for a range of diseases. Stanford researchers used blood from the test to map\u003cstrong> \u003c/strong>the CF gene. Now when they test babies, the results show whether or not a baby has a mutation on that gene.\u003c/p>\n\u003cp>The other benefit of Stanford's new test is that researchers can sequence DNA from nearly 100 babies at once in an \u003ca href=\"http://www.illumina.com/systems/miseq.html\">Illumina genome sequencing machine\u003c/a>.\u003c/p>\n\u003cp>This process takes only a few days and Scharfe hopes eventually it will only take a few hours. Current tests take longer than a week.\u003c/p>\n\u003cp>And because the process sequences the entire CF genome it won't miss mutations, even if they are extremely rare.\u003c/p>\n\u003cp>\u003cstrong>The Future for Stanford's CF Test\u003c/strong>\u003c/p>\n\u003cp>Stanford's new test is about one-fifth the cost of current CF tests. That's partially because genome sequencing has become much less expensive. Analyzing the CF gene is possible in a way that it wasn't fifty years ago.\u003c/p>\n\u003cfigure id=\"attachment_105112\" class=\"wp-caption alignright\" style=\"max-width: 338px\">\u003cimg class=\"size-medium wp-image-105112\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/01/IMG_7115-338x600.png\" alt=\"At age six, Patrick McGowan is extremely active and shows few outward signs of cystic fibrosis.\" width=\"338\" height=\"600\">\u003cfigcaption class=\"wp-caption-text\">At age six, Patrick McGowan is extremely active and shows few outward signs of cystic fibrosis. \u003ccite>(Kirsten McGowan)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>So Scharfe hopes that, eventually, the test will be used throughout the country.\u003c/p>\n\u003cp>\"California has the most comprehensive cystic fibrosis testing program and it would be very beneficial to have this new test available in many states.\"\u003c/p>\n\u003cp>Before California's statewide newborn screening program started in 1966, many kids with genetic disorders would go undiagnosed and symptoms would show up later.\u003cstrong>\u003cbr>\n\u003c/strong>\u003cbr>\nBut this hasn't been a problem for Kirsten's son Patrick.\u003c/p>\n\u003cp>\"Outwardly he looks like any other kid walking down the sidewalk,\" says McGowan.\u003c/p>\n\u003cp>She said early detection of genetic diseases is crucial.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\"The sooner you get that news, the sooner you stop thinking ‘what if’. And then can get to that good place of living with the disease.\"\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/104547/stanford-develops-fast-affordable-genetic-test-for-newborns","authors":["5432"],"programs":["futureofyou_54"],"categories":["futureofyou_1062"],"tags":["futureofyou_733","futureofyou_734","futureofyou_735","futureofyou_80","futureofyou_732"],"featImg":"futureofyou_104599","label":"futureofyou_54"}},"programsReducer":{"possible":{"id":"possible","title":"Possible","info":"Possible is hosted by entrepreneur Reid Hoffman and writer Aria Finger. Together in Possible, Hoffman and Finger lead enlightening discussions about building a brighter collective future. The show features interviews with visionary guests like Trevor Noah, Sam Altman and Janette Sadik-Khan. Possible paints an optimistic portrait of the world we can create through science, policy, business, art and our shared humanity. 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And you join us on the journey to find the answers.","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Bay-Curious-Podcast-Tile-703x703-1.jpg","imageAlt":"\"KQED Bay Curious","officialWebsiteLink":"/news/series/baycurious","meta":{"site":"news","source":"kqed","order":"4"},"link":"/podcasts/baycurious","subscribe":{"apple":"https://podcasts.apple.com/us/podcast/bay-curious/id1172473406","npr":"https://www.npr.org/podcasts/500557090/bay-curious","rss":"https://ww2.kqed.org/news/category/bay-curious-podcast/feed/podcast","google":"https://podcasts.google.com/feed/aHR0cHM6Ly93dzIua3FlZC5vcmcvbmV3cy9jYXRlZ29yeS9iYXktY3VyaW91cy1wb2RjYXN0L2ZlZWQvcG9kY2FzdA","stitcher":"https://www.stitcher.com/podcast/kqed/bay-curious","spotify":"https://open.spotify.com/show/6O76IdmhixfijmhTZLIJ8k"}},"bbc-world-service":{"id":"bbc-world-service","title":"BBC World Service","info":"The day's top stories from BBC News compiled twice daily in the week, once at weekends.","airtime":"MON-FRI 9pm-10pm, TUE-FRI 1am-2am","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/BBC-World-Service-Podcast-Tile-360x360-1.jpg","officialWebsiteLink":"https://www.bbc.co.uk/sounds/play/live:bbc_world_service","meta":{"site":"news","source":"BBC World Service"},"link":"/radio/program/bbc-world-service","subscribe":{"apple":"https://itunes.apple.com/us/podcast/global-news-podcast/id135067274?mt=2","tuneIn":"https://tunein.com/radio/BBC-World-Service-p455581/","rss":"https://podcasts.files.bbci.co.uk/p02nq0gn.rss"}},"code-switch-life-kit":{"id":"code-switch-life-kit","title":"Code Switch / Life Kit","info":"\u003cem>Code Switch\u003c/em>, which listeners will hear in the first part of the hour, has fearless and much-needed conversations about race. Hosted by journalists of color, the show tackles the subject of race head-on, exploring how it impacts every part of society — from politics and pop culture to history, sports and more.\u003cbr />\u003cbr />\u003cem>Life Kit\u003c/em>, which will be in the second part of the hour, guides you through spaces and feelings no one prepares you for — from finances to mental health, from workplace microaggressions to imposter syndrome, from relationships to parenting. The show features experts with real world experience and shares their knowledge. Because everyone needs a little help being human.\u003cbr />\u003cbr />\u003ca href=\"https://www.npr.org/podcasts/510312/codeswitch\">\u003cem>Code Switch\u003c/em> offical site and podcast\u003c/a>\u003cbr />\u003ca href=\"https://www.npr.org/lifekit\">\u003cem>Life Kit\u003c/em> offical site and podcast\u003c/a>\u003cbr />","airtime":"SUN 9pm-10pm","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Code-Switch-Life-Kit-Podcast-Tile-360x360-1.jpg","meta":{"site":"radio","source":"npr"},"link":"/radio/program/code-switch-life-kit","subscribe":{"apple":"https://podcasts.apple.com/podcast/1112190608?mt=2&at=11l79Y&ct=nprdirectory","google":"https://podcasts.google.com/feed/aHR0cHM6Ly93d3cubnByLm9yZy9yc3MvcG9kY2FzdC5waHA_aWQ9NTEwMzEy","spotify":"https://open.spotify.com/show/3bExJ9JQpkwNhoHvaIIuyV","rss":"https://feeds.npr.org/510312/podcast.xml"}},"commonwealth-club":{"id":"commonwealth-club","title":"Commonwealth Club of California Podcast","info":"The Commonwealth Club of California is the nation's oldest and largest public affairs forum. 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