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Media Center Anne Wojcicki, Co-Founder Core Values Anne brings to 23andMe a 10-year background in healthcare investing, focused Policy Forum primarily on biotechnology companies. Anne left the investing world with the Corporate Info hope that she could have a positive impact on research and medicine through 23andMe. From her vantage point, Anne saw a need for creating a way to Platform Services generate more information - especially more personalized information - so that Jobs commercial and academic researchers could better understand and develop new drugs and diagnostics. By encouraging individuals to access and learn about who we are their own genetic information, 23andMe will create a common, standardized Board of Directors resource that has the potential to accelerate drug discovery and bring Leadership Team personalized medicine to the public. (Plus, getting access to her own genetic information and understanding it has always been one of Anne's ambitions.) Research Team Anne graduated from Yale University with a B.S. in biology. Editorial Advisors Scientific Advisory Board

Andy Page, President Andy Page brings corporate leadership, financial acumen and deep operational expertise to 23andMe. Andy has been a member of the 23andMe board of directors since 2012 and joined the company as President in 2013. As President, Andy leads the company’s product and engineering, marketing, finance, business development, laboratory operations and legal/regulatory affairs functions. In addition, he is responsible for developing the company’s business strategy and identifying opportunities for long-term growth and industry leadership. Before joining 23andMe, Andy served as the President of Gilt Groupe, an online luxury shopping destination, where he oversaw the Company’s various businesses and operations including Women’s, Men’s, Kids & Baby, Home, Park & Bond, Gilt City and Gilt Taste. He joined Gilt in April 2010 as the Chief Financial Officer and transitioned to President in 2011. Prior to joining Gilt, Andy was Chief Operating and Financial Officer at PlayPhone, Inc., where he was responsible for managing the company’s multinational operations. Before PlayPhone, Andy was Chief Financial Officer and SVP of Business Strategy of StubHub Inc. There he managed the company’s financial operations, business strategy, financial reporting, and administrative functions. He led the company’s sale to eBay in 2007. Andy has also held senior executive positions at Panasas Inc., ONI Systems Corp., and Robertson Stephens & Company. Andy holds a BA from Princeton University and a MBA from Harvard Business School. He is an advisor to several private e-commerce companies. He also serves on the board of directors of My New Red Shoes, a nonprofit organization that provides back-to- school clothes for homeless and low-income children in the San Francisco Bay Area.

Esther Dyson, Board Member Esther Dyson does business as EDventure Holdings, the reclaimed name of the company she owned for 20-odd years before selling it to CNET Networks in 2004. In the last few years, she has turned her sights towards IT and health care. She dedicated two issues of her newsletter, Release 1.0, to the topic (Health and Identity: No Patient Left Behind? in January 2005 and Personal Health Information: Data Comes Alive! in September 2005). Also in September 2005, she ran the Personal Health Information workshop that laid out many of the challenges still perplexing the health-care community. Currently, she is one of the initial ten subjects of George Church's Personal Genome Project. Her primary activity is investing in start-ups and guiding many of them as a board member. Her board seats include Boxbe, CVO Group (Hungary), Eventful.com, Evernote, IBS Group (Russia, advisory board), Meetup, Midentity (UK), NewspaperDirect, and WPP Group and Yandex (Russia). Some of her past direct IT investments include Flickr, Del.icio.us, BrightMail, Medstory and Orbitz. Dyson was the

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welcome health ancestry how it works buy search help about 23andMe board of directors Team 23andMe

Media Center Anne Wojcicki, Co-Founder Core Values Anne brings to 23andMe a 10-year background in healthcare investing, focused Policy Forum primarily on biotechnology companies. Anne left the investing world with the Corporate Info hope that she could have a positive impact on research and medicine through 23andMe. From her vantage point, Anne saw a need for creating a way to Platform Services generate more information - especially more personalized information - so that Jobs commercial and academic researchers could better understand and develop new drugs and diagnostics. By encouraging individuals to access and learn about who we are their own genetic information, 23andMe will create a common, standardized Board of Directors resource that has the potential to accelerate drug discovery and bring Leadership Team personalized medicine to the public. (Plus, getting access to her own genetic information and understanding it has always been one of Anne's ambitions.) Research Team Anne graduated from Yale University with a B.S. in biology. Editorial Advisors Scientific Advisory Board

Andy Page, President Andy Page brings corporate leadership, financial acumen and deep operational expertise to 23andMe. Andy has been a member of the 23andMe board of directors since 2012 and joined the company as President in 2013. As President, Andy leads the company’s product and engineering, marketing, finance, business development, laboratory operations and legal/regulatory affairs functions. In addition, he is responsible for developing the company’s business strategy and identifying opportunities for long-term growth and industry leadership. Before joining 23andMe, Andy served as the President of Gilt Groupe, an online luxury shopping destination, where he oversaw the Company’s various businesses and operations including Women’s, Men’s, Kids & Baby, Home, Park & Bond, Gilt City and Gilt Taste. He joined Gilt in April 2010 as the Chief Financial Officer and transitioned to President in 2011. Prior to joining Gilt, Andy was Chief Operating and Financial Officer at PlayPhone, Inc., where he was responsible for managing the company’s multinational operations. Before PlayPhone, Andy was Chief Financial Officer and SVP of Business Strategy of StubHub Inc. There he managed the company’s financial operations, business strategy, financial reporting, and administrative functions. He led the company’s sale to eBay in 2007. Andy has also held senior executive positions at Panasas Inc., ONI Systems Corp., and Robertson Stephens & Company. Andy holds a BA from Princeton University and a MBA from Harvard Business School. He is an advisor to several private e-commerce companies. He also serves on the board of directors of My New Red Shoes, a nonprofit organization that provides back-to- school clothes for homeless and low-income children in the San Francisco Bay Area.

Esther Dyson, Board Member Esther Dyson does business as EDventure Holdings, the reclaimed name of the company she owned for 20-odd years before selling it to CNET Networks in 2004. In the last few years, she has turned her sights towards IT and health care. She dedicated two issues of her newsletter, Release 1.0, to the topic (Health and Identity: No Patient Left Behind? in January 2005 and Personal Health Information: Data Comes Alive! in September 2005). Also in September 2005, she ran the Personal Health Information workshop that laid out many of the challenges still perplexing the health-care community. Currently, she is one of the initial ten subjects of George Church's Personal Genome Project. Her primary activity is investing in start-ups and guiding many of them as a board member. Her board seats include Boxbe, CVO Group (Hungary), Eventful.com, Evernote, IBS Group (Russia, advisory board), Meetup, Midentity (UK), NewspaperDirect, and WPP Group and Yandex (Russia). Some of her past direct IT investments include Flickr, Del.icio.us, BrightMail, Medstory and Orbitz. Dyson was the sign in register kit

welcome health ancestry how it works buy search help about 23andMe board of directors Team 23andMe

Media Center Anne Wojcicki, Co-Founder Core Values Anne brings to 23andMe a 10-year background in healthcare investing, focused Policy Forum primarily on biotechnology companies. Anne left the investing world with the Corporate Info hope that she could have a positive impact on research and medicine through 23andMe. From her vantage point, Anne saw a need for creating a way to Platform Services generate more information - especially more personalized information - so that Jobs commercial and academic researchers could better understand and develop new drugs and diagnostics. By encouraging individuals to access and learn about who we are their own genetic information, 23andMe will create a common, standardized Board of Directors resource that has the potential to accelerate drug discovery and bring Leadership Team personalized medicine to the public. (Plus, getting access to her own genetic information and understanding it has always been one of Anne's ambitions.) Research Team Anne graduated from Yale University with a B.S. in biology. Editorial Advisors Scientific Advisory Board

Andy Page, President Andy Page brings corporate leadership, financial acumen and deep operational expertise to 23andMe. Andy has been a member of the 23andMe board of directors since 2012 and joined the company as President in 2013. As President, Andy leads the company’s product and engineering, marketing, finance, business development, laboratory operations and legal/regulatory affairs functions. In addition, he is responsible for developing the company’s business strategy and identifying opportunities for long-term growth and industry leadership. Before joining 23andMe, Andy served as the President of Gilt Groupe, an online luxury shopping destination, where he oversaw the Company’s various businesses and operations including Women’s, Men’s, Kids & Baby, Home, Park & Bond, Gilt City and Gilt Taste. He joined Gilt in April 2010 as the Chief Financial Officer and transitioned to President in 2011. Prior to joining Gilt, Andy was Chief Operating and Financial Officer at PlayPhone, Inc., where he was responsible for managing the company’s multinational operations. Before PlayPhone, Andy was Chief Financial Officer and SVP of Business Strategy of StubHub Inc. There he managed the company’s financial operations, business strategy, financial reporting, and administrative functions. He led the company’s sale to eBay in 2007. Andy has also held senior executive positions at Panasas Inc., ONI Systems Corp., and Robertson Stephens & Company. Andy holds a BA from Princeton University and a MBA from Harvard Business School. He is an advisor to several private e-commerce companies. He also serves on the board of directors of My New Red Shoes, a nonprofit organization that provides back-to- school clothes for homeless and low-income children in the San Francisco Bay Area.

Esther Dyson, Board Member Esther Dyson does business as EDventure Holdings, the reclaimed name of the company she owned for 20-odd years before selling it to CNET Networks in 2004. In the last few years, she has turned her sights towards IT and health care. She dedicated two issues of her newsletter, Release 1.0, to the topic (Health and Identity: No Patient Left Behind? in January 2005 and Personal Health Information: Data Comes Alive! in September 2005). Also in September 2005, she ran the Personal Health Information workshop that laid out many of the challenges still perplexing the health-care community. Currently, she is one of the initial ten subjects of George Church's Personal Genome Project. Her primary activity is investing in start-ups and guiding many of them as a board member. Her board seats include Boxbe, CVO Group (Hungary), Eventful.com, Evernote, IBS Group (Russia, advisory board), Meetup, Midentity (UK), NewspaperDirect, and WPP Group and Yandex (Russia). Some of her past direct IT investments include Flickr, Del.icio.us, BrightMail, Medstory and Orbitz. Dyson was the founding chairman of ICANN from 1998 to 2000, and was also chairman of the Electronic Frontier Foundation in the 90's. In 1997, she wrote Release 2.0: A Design for Living in the Digital Age, which appeared in paperback a year later as Release 2.1. In 1994, she wrote a seminal essay on intellectual property for Wired magazine.

Patrick Chung, Board Member Patrick joined NEA in 2004 and became Partner in 2007. Patrick focuses on consumer, Internet and mobile investments across stage. Prior to joining NEA, Patrick helped to grow ZEFER, an Internet services firm (acquired by NEC) to more than $100 million in annual revenues and more than 700 people across six global offices. Prior to ZEFER, Patrick was with McKinsey & Company, where he specialized in hardware, software, and services companies. Patrick received a joint JD-MBA degree from Harvard Business School and Harvard Law School, where he served as an Editor of the Harvard Law Review. Patrick earned a Master of Science degree as a Commonwealth Scholar at Oxford University and earned his A.B. degree at Harvard University in Environmental Science. He is a member of the New York and Massachusetts bars, and a member of the Committee to Visit Harvard College.

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Media Center Serafim Batzoglou, Ph.D. Core Values Associate Professor of Computer Science, Stanford University Policy Forum Serafim Batzoglou is associate professor of computer science at Stanford University. His primary research interests are in the application of computer Corporate Info science to molecular biology. Currently, his research focuses on novel alignment Platform Services algorithms, comparative genomics, sequence assembly, gene regulation, and Jobs networks of protein interactions. Dr. Batzoglou holds a Ph.D. in computer science from Massachusetts Institute of Technology, a M. Eng. in electrical engineering who we are and computer science from Massachusetts Institute of Technology, and an S.B. Board of Directors in computer science and mathematics from Massachusetts Institute of Technology. He has been the recipient of the Alfred P. Sloan Fellowship, the Leadership Team National Science Foundation CAREER award, and was named as one of the Top Research Team 100 Young Technology Innovators of 2003 by the MIT Technology Review Editorial Advisors Magazine. Scientific Advisory Board

George Church, Ph.D. Professor of Genetics, Harvard Medical School George Church is professor of genetics at Harvard Medical School and Director of the Center for Computational Genetics. With degrees from Duke University in chemistry and zoology, he co-authored research on 3D-software and RNA structure with Sung-Hou Kim. His Ph.D. from Harvard in biochemistry and molecular biology with Wally Gilbert included the first direct genomic sequencing method in 1984; initiating the Human Genome Project then as a Research Scientist at newly-formed Biogen Inc. and a Monsanto Life Sciences Research Fellow at UCSF. He invented the broadly-applied concepts of molecular multiplexing and tags, homologous recombination methods, and array DNA synthesizers. Technology transfer of automated sequencing and software to Genome Therapeutics Corp. resulted in the first commercial genome sequence (the human pathogen, H. pylori, 1994). He has served in advisory roles for 12 journals, 5 granting agencies and over 20 biotech companies. Current research focuses on integrating biosystems-modeling with personal genomics and synthetic biology.

Michael Eisen, Ph.D. Investigator, Howard Hughes Medical Institute Associate Professor of Genetics and Development, University of California, Berkeley Michael B. Eisen is an evolutionary geneticist at the University of California at Berkeley. He received his undergraduate degree in mathematics from Harvard College in 1989. He received a Ph.D. in biophysics from Harvard University in 1996 for his doctoral research on influenza virus proteins structure and function. After a summer working as a minor league baseball play-by-play announcer, he joined the laboratories of Patrick O. Brown and David Botstein at Stanford as a postdoctoral fellow. Working with Brown and Botstein, Eisen pioneered methods for the analysis of data from genome-wide expression studies. In 2000, he moved to Berkeley, where he is currently a professor in the Department of Molecular and Cell Biology. He has received numerous awards for his research accomplishments, including being named a 2001 Pew Biomedical Scholar, receiving a 2004 Presidential Early Career Award for Scientists and Engineers (the highest award bestowed by the US government to scientists at the beginning of their independent research careers), and becoming an investigator with the Howard Hughes Medical Institute in 2008.

In addition to his research, Dr. Eisen has been a leading advocate for the free flow of biological data and information among scientists and between scientists and the public. In 2000 he co-founded, along Stanford biochemist Patrick Brown and former NIH Director Harold Varmus, the Public Library of Science (PLoS). PLoS is sign in register kit

welcome health ancestry how it works buy search help about 23andMe scientific advisory board Team 23andMe

Media Center Serafim Batzoglou, Ph.D. Core Values Associate Professor of Computer Science, Stanford University Policy Forum Serafim Batzoglou is associate professor of computer science at Stanford University. His primary research interests are in the application of computer Corporate Info science to molecular biology. Currently, his research focuses on novel alignment Platform Services algorithms, comparative genomics, sequence assembly, gene regulation, and Jobs networks of protein interactions. Dr. Batzoglou holds a Ph.D. in computer science from Massachusetts Institute of Technology, a M. Eng. in electrical engineering who we are and computer science from Massachusetts Institute of Technology, and an S.B. Board of Directors in computer science and mathematics from Massachusetts Institute of Technology. He has been the recipient of the Alfred P. Sloan Fellowship, the Leadership Team National Science Foundation CAREER award, and was named as one of the Top Research Team 100 Young Technology Innovators of 2003 by the MIT Technology Review Editorial Advisors Magazine. Scientific Advisory Board

George Church, Ph.D. Professor of Genetics, Harvard Medical School George Church is professor of genetics at Harvard Medical School and Director of the Center for Computational Genetics. With degrees from Duke University in chemistry and zoology, he co-authored research on 3D-software and RNA structure with Sung-Hou Kim. His Ph.D. from Harvard in biochemistry and molecular biology with Wally Gilbert included the first direct genomic sequencing method in 1984; initiating the Human Genome Project then as a Research Scientist at newly-formed Biogen Inc. and a Monsanto Life Sciences Research Fellow at UCSF. He invented the broadly-applied concepts of molecular multiplexing and tags, homologous recombination methods, and array DNA synthesizers. Technology transfer of automated sequencing and software to Genome Therapeutics Corp. resulted in the first commercial genome sequence (the human pathogen, H. pylori, 1994). He has served in advisory roles for 12 journals, 5 granting agencies and over 20 biotech companies. Current research focuses on integrating biosystems-modeling with personal genomics and synthetic biology.

Michael Eisen, Ph.D. Investigator, Howard Hughes Medical Institute Associate Professor of Genetics and Development, University of California, Berkeley Michael B. Eisen is an evolutionary geneticist at the University of California at Berkeley. He received his undergraduate degree in mathematics from Harvard College in 1989. He received a Ph.D. in biophysics from Harvard University in 1996 for his doctoral research on influenza virus proteins structure and function. After a summer working as a minor league baseball play-by-play announcer, he joined the laboratories of Patrick O. Brown and David Botstein at Stanford as a postdoctoral fellow. Working with Brown and Botstein, Eisen pioneered methods for the analysis of data from genome-wide expression studies. In 2000, he moved to Berkeley, where he is currently a professor in the Department of Molecular and Cell Biology. He has received numerous awards for his research accomplishments, including being named a 2001 Pew Biomedical Scholar, receiving a 2004 Presidential Early Career Award for Scientists and Engineers (the highest award bestowed by the US government to scientists at the beginning of their independent research careers), and becoming an investigator with the Howard Hughes Medical Institute in 2008.

In addition to his research, Dr. Eisen has been a leading advocate for the free flow of biological data and information among scientists and between scientists and the public. In 2000 he co-founded, along Stanford biochemist Patrick Brown and former NIH Director Harold Varmus, the Public Library of Science (PLoS). PLoS is sign in register kit

welcome health ancestry how it works buy search help about 23andMe scientific advisory board Team 23andMe

Media Center Serafim Batzoglou, Ph.D. Core Values Associate Professor of Computer Science, Stanford University Policy Forum Serafim Batzoglou is associate professor of computer science at Stanford University. His primary research interests are in the application of computer Corporate Info science to molecular biology. Currently, his research focuses on novel alignment Platform Services algorithms, comparative genomics, sequence assembly, gene regulation, and Jobs networks of protein interactions. Dr. Batzoglou holds a Ph.D. in computer science from Massachusetts Institute of Technology, a M. Eng. in electrical engineering who we are and computer science from Massachusetts Institute of Technology, and an S.B. Board of Directors in computer science and mathematics from Massachusetts Institute of Technology. He has been the recipient of the Alfred P. Sloan Fellowship, the Leadership Team National Science Foundation CAREER award, and was named as one of the Top Research Team 100 Young Technology Innovators of 2003 by the MIT Technology Review Editorial Advisors Magazine. Scientific Advisory Board

George Church, Ph.D. Professor of Genetics, Harvard Medical School George Church is professor of genetics at Harvard Medical School and Director of the Center for Computational Genetics. With degrees from Duke University in chemistry and zoology, he co-authored research on 3D-software and RNA structure with Sung-Hou Kim. His Ph.D. from Harvard in biochemistry and molecular biology with Wally Gilbert included the first direct genomic sequencing method in 1984; initiating the Human Genome Project then as a Research Scientist at newly-formed Biogen Inc. and a Monsanto Life Sciences Research Fellow at UCSF. He invented the broadly-applied concepts of molecular multiplexing and tags, homologous recombination methods, and array DNA synthesizers. Technology transfer of automated sequencing and software to Genome Therapeutics Corp. resulted in the first commercial genome sequence (the human pathogen, H. pylori, 1994). He has served in advisory roles for 12 journals, 5 granting agencies and over 20 biotech companies. Current research focuses on integrating biosystems-modeling with personal genomics and synthetic biology.

Michael Eisen, Ph.D. Investigator, Howard Hughes Medical Institute Associate Professor of Genetics and Development, University of California, Berkeley Michael B. Eisen is an evolutionary geneticist at the University of California at Berkeley. He received his undergraduate degree in mathematics from Harvard College in 1989. He received a Ph.D. in biophysics from Harvard University in 1996 for his doctoral research on influenza virus proteins structure and function. After a summer working as a minor league baseball play-by-play announcer, he joined the laboratories of Patrick O. Brown and David Botstein at Stanford as a postdoctoral fellow. Working with Brown and Botstein, Eisen pioneered methods for the analysis of data from genome-wide expression studies. In 2000, he moved to Berkeley, where he is currently a professor in the Department of Molecular and Cell Biology. He has received numerous awards for his research accomplishments, including being named a 2001 Pew Biomedical Scholar, receiving a 2004 Presidential Early Career Award for Scientists and Engineers (the highest award bestowed by the US government to scientists at the beginning of their independent research careers), and becoming an investigator with the Howard Hughes Medical Institute in 2008.

In addition to his research, Dr. Eisen has been a leading advocate for the free flow of biological data and information among scientists and between scientists and the public. In 2000 he co-founded, along Stanford biochemist Patrick Brown and former NIH Director Harold Varmus, the Public Library of Science (PLoS). PLoS is a not-for-profit scientific publisher dedicated to making the world's scientific information a freely-available public resource. PLoS has become the leading publisher of open-access journals, whose contents are always freely available for anyone to read, download and reuse.

Marcus Feldman, Ph.D. Professor of Biological Sciences, Stanford University Marcus W. Feldman is a professor of biological sciences at Stanford University. He uses applied mathematics and computer modeling to simulate and analyze the process of evolution. Specific areas of research include the evolution of complex genetic systems that can undergo both natural selection and recombination and the evolution of learning as one interface between modern methods in artificial intelligence and models of biological processes, including communication. He also studies the evolution of modern humans using models for the dynamics of molecular polymorphisms, especially DNA variants. He is one of the originators of the quantitative theory of cultural evolution, which he applies to issues in human behavior. Dr. Feldman has a large research program on demographic issues related to the sex ratio in China. He is managing editor of Theoretical Population Biology and associate editor of Genetics, Human Genetics, Annals of Human Genomics, Annals of Human Biology, and Complexity.

Dr. Feldman is a member of the American Society of Naturalists, former editor of The American Naturalist, a member of the American Society of Human Genetics, and a fellow of the American Academy of Arts and Sciences and of the California Academy of Science. His work received the "Paper of the Year 2003" award in all of biomedical science from The Lancet. He has been awarded an honorary doctorate of philosophy by the Hebrew University of Jerusalem and is an Honorary Professor at Bejing Normal University and Xi'an Jiaotong University. He is the author of more than 390 scientific papers and six books on evolution, ecology, demography, and mathematical biology. He received his B.Sc. in 1964 from the University of Western Australia, his M.S. in 1966 from Monash University, Australia, and his Ph.D. from Stanford in 1969.

Stanley Nelson, M.D. Professor and Vice Chair of Human Genetics, Professor of Psychiatry, David Geffen School of Medicine at University of California, Los Angeles Stanley F. Nelson, M.D. is professor and vice chair of human genetics and professor of psychiatry within the David Geffen School of Medicine at UCLA where he has been on faculty since 1993. Dr. Nelson attended the University of Michigan and obtained a B.S. degree in physics in 1982. He graduated from Duke University School of Medicine in 1987 and completed an ITT International Fellowship to Sweden in the Laboratory of George Klein. He was trained in pediatrics and pediatric hematology-oncology at UCSF School of Medicine, and subsequently trained as a postdoctoral fellow with Patrick Brown from 1990-1993 where he developed genomic mismatch scanning and initiated the lab development of DNA microarrays for genomic applications. At UCLA, Dr. Nelson has continued to be interested in technology development and application of genomics to cancer biology and common human diseases with active research areas in Autism, ADHD, vertigo and brain cancers. He developed and continues to direct the UCLA DNA Microarray Facility which provides access to whole genome expression array analysis for faculty on campus and for the NIH Neuroscience Blueprint.

Jonathan Pritchard, Ph.D. Professor of Genetics and Biology, Stanford University Jonathan Pritchard is a professor of genetics and biological sciences at Stanford University. His work focuses on applications of statistics and population genetics to the study of human genetic variation. Dr. Pritchard has made key contributions to the understanding of human population structure and human evolution, and to statistical methods for identifying the genetic basis of common disease. In 2000, with coworkers Matthew Stephens and Peter Donnelly, he developed the structure algorithm, a clustering method for studying population structure and estimating the ancestry of individuals. The structure method is now used in a wide range of applications in genetics, and has been applied in well over 1000 a not-for-profit scientific publisher dedicated to making the world's scientific information a freely-available public resource. PLoS has become the leading publisher of open-access journals, whose contents are always freely available for anyone to read, download and reuse.

Marcus Feldman, Ph.D. Professor of Biological Sciences, Stanford University Marcus W. Feldman is a professor of biological sciences at Stanford University. He uses applied mathematics and computer modeling to simulate and analyze the process of evolution. Specific areas of research include the evolution of complex genetic systems that can undergo both natural selection and recombination and the evolution of learning as one interface between modern methods in artificial intelligence and models of biological processes, including communication. He also studies the evolution of modern humans using models for the dynamics of molecular polymorphisms, especially DNA variants. He is one of the originators of the quantitative theory of cultural evolution, which he applies to issues in human behavior. Dr. Feldman has a large research program on demographic issues related to the sex ratio in China. He is managing editor of Theoretical Population Biology and associate editor of Genetics, Human Genetics, Annals of Human Genomics, Annals of Human Biology, and Complexity.

Dr. Feldman is a member of the American Society of Naturalists, former editor of The American Naturalist, a member of the American Society of Human Genetics, and a fellow of the American Academy of Arts and Sciences and of the California Academy of Science. His work received the "Paper of the Year 2003" award in all of biomedical science from The Lancet. He has been awarded an honorary doctorate of philosophy by the Hebrew University of Jerusalem and is an Honorary Professor at Bejing Normal University and Xi'an Jiaotong University. He is the author of more than 390 scientific papers and six books on evolution, ecology, demography, and mathematical biology. He received his B.Sc. in 1964 from the University of Western Australia, his M.S. in 1966 from Monash University, Australia, and his Ph.D. from Stanford in 1969.

Stanley Nelson, M.D. Professor and Vice Chair of Human Genetics, Professor of Psychiatry, David Geffen School of Medicine at University of California, Los Angeles Stanley F. Nelson, M.D. is professor and vice chair of human genetics and professor of psychiatry within the David Geffen School of Medicine at UCLA where he has been on faculty since 1993. Dr. Nelson attended the University of Michigan and obtained a B.S. degree in physics in 1982. He graduated from Duke University School of Medicine in 1987 and completed an ITT International Fellowship to Sweden in the Laboratory of George Klein. He was trained in pediatrics and pediatric hematology-oncology at UCSF School of Medicine, and subsequently trained as a postdoctoral fellow with Patrick Brown from 1990-1993 where he developed genomic mismatch scanning and initiated the lab development of DNA microarrays for genomic applications. At UCLA, Dr. Nelson has continued to be interested in technology development and application of genomics to cancer biology and common human diseases with active research areas in Autism, ADHD, vertigo and brain cancers. He developed and continues to direct the UCLA DNA Microarray Facility which provides access to whole genome expression array analysis for faculty on campus and for the NIH Neuroscience Blueprint.

Jonathan Pritchard, Ph.D. Professor of Genetics and Biology, Stanford University Jonathan Pritchard is a professor of genetics and biological sciences at Stanford University. His work focuses on applications of statistics and population genetics to the study of human genetic variation. Dr. Pritchard has made key contributions to the understanding of human population structure and human evolution, and to statistical methods for identifying the genetic basis of common disease. In 2000, with coworkers Matthew Stephens and Peter Donnelly, he developed the structure algorithm, a clustering method for studying population structure and estimating the ancestry of individuals. The structure method is now used in a wide range of applications in genetics, and has been applied in well over 1000 a not-for-profit scientific publisher dedicated to making the world's scientific information a freely-available public resource. PLoS has become the leading publisher of open-access journals, whose contents are always freely available for anyone to read, download and reuse.

Marcus Feldman, Ph.D. Professor of Biological Sciences, Stanford University Marcus W. Feldman is a professor of biological sciences at Stanford University. He uses applied mathematics and computer modeling to simulate and analyze the process of evolution. Specific areas of research include the evolution of complex genetic systems that can undergo both natural selection and recombination and the evolution of learning as one interface between modern methods in artificial intelligence and models of biological processes, including communication. He also studies the evolution of modern humans using models for the dynamics of molecular polymorphisms, especially DNA variants. He is one of the originators of the quantitative theory of cultural evolution, which he applies to issues in human behavior. Dr. Feldman has a large research program on demographic issues related to the sex ratio in China. He is managing editor of Theoretical Population Biology and associate editor of Genetics, Human Genetics, Annals of Human Genomics, Annals of Human Biology, and Complexity.

Dr. Feldman is a member of the American Society of Naturalists, former editor of The American Naturalist, a member of the American Society of Human Genetics, and a fellow of the American Academy of Arts and Sciences and of the California Academy of Science. His work received the "Paper of the Year 2003" award in all of biomedical science from The Lancet. He has been awarded an honorary doctorate of philosophy by the Hebrew University of Jerusalem and is an Honorary Professor at Bejing Normal University and Xi'an Jiaotong University. He is the author of more than 390 scientific papers and six books on evolution, ecology, demography, and mathematical biology. He received his B.Sc. in 1964 from the University of Western Australia, his M.S. in 1966 from Monash University, Australia, and his Ph.D. from Stanford in 1969.

Stanley Nelson, M.D. Professor and Vice Chair of Human Genetics, Professor of Psychiatry, David Geffen School of Medicine at University of California, Los Angeles Stanley F. Nelson, M.D. is professor and vice chair of human genetics and professor of psychiatry within the David Geffen School of Medicine at UCLA where he has been on faculty since 1993. Dr. Nelson attended the University of Michigan and obtained a B.S. degree in physics in 1982. He graduated from Duke University School of Medicine in 1987 and completed an ITT International Fellowship to Sweden in the Laboratory of George Klein. He was trained in pediatrics and pediatric hematology-oncology at UCSF School of Medicine, and subsequently trained as a postdoctoral fellow with Patrick Brown from 1990-1993 where he developed genomic mismatch scanning and initiated the lab development of DNA microarrays for genomic applications. At UCLA, Dr. Nelson has continued to be interested in technology development and application of genomics to cancer biology and common human diseases with active research areas in Autism, ADHD, vertigo and brain cancers. He developed and continues to direct the UCLA DNA Microarray Facility which provides access to whole genome expression array analysis for faculty on campus and for the NIH Neuroscience Blueprint.

Jonathan Pritchard, Ph.D. Professor of Genetics and Biology, Stanford University Jonathan Pritchard is a professor of genetics and biological sciences at Stanford University. His work focuses on applications of statistics and population genetics to the study of human genetic variation. Dr. Pritchard has made key contributions to the understanding of human population structure and human evolution, and to statistical methods for identifying the genetic basis of common disease. In 2000, with coworkers Matthew Stephens and Peter Donnelly, he developed the structure algorithm, a clustering method for studying population structure and estimating the ancestry of individuals. The structure method is now used in a wide range of applications in genetics, and has been applied in well over 1000 scientific papers. Dr. Pritchard received B.S. degrees in mathematics and biology from Pennsylvania State University (1994), and a Ph.D. in biology from Stanford University (1998). He was a postdoctoral fellow in statistics at the University of Oxford prior to joining the faculty at The University of Chicago in 2001. In 2013, Dr. Pritchard joined the Genetics and Biological Sciences Departments at Stanford University.

Uta Francke, MD Senior Medical Director Dr. Francke joined 23andMe as Senior Medical Director in 2010, having served as an Editorial Advisor since 2007. She is also professor emeritus of Genetics and Pediatrics at Stanford University, on recall, where she teaches medical, molecular, and clinical genetics. Dr. Francke's past research has ranged from human and mouse chromosome identification and gene mapping to the discovery of genes involved in heritable disorders, studies of their functions and of disease-causing mechanisms. Applying genomic technologies to mammalian genetics research, she has focused on the development of mouse models for human microdeletion syndromes. Dr. Francke is board-certified by the American Board of Pediatrics and the American Board of Medical Genetics in Clinical and Molecular Genetics and Cytogenetics. She has been an Investigator of the Howard Hughes Medical Institute and the recipient of several awards, including the Antoine Marfan Award from the National Marfan Foundation, the Colonel Harland Sanders Lifetime Achievement Award in Genetics from the March of Dimes Birth Defects Foundation, and the 2012 William Allan Award from the American Society of Human Genetics. She is a member of the Institute of Medicine of the National Academies and a fellow of the American Association for Advancement of Science and of the American Academy of Arts and Sciences. She is a past president of the American Society for Human Genetics and of the International Federation of Human Genetics Societies and a founding member of the American College of Medical Genetics. Dr. Francke holds an M.D. from the University of Munich, Germany.

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welcome health ancestry how it works buy search help about 23andMe corporate info Team 23andMe Media Center Corporate Facts Core Values 23andMe, Inc. is a privately-held company dedicated to helping individuals understand their own genetic information Policy Forum using recent advances in DNA analysis technologies and web-based interactive tools. 23andMe enables individuals to Corporate Info gain deeper insights into personal ancestry, genealogy and inherited traits. 23andMe was founded in April 2006 by Platform Services Linda Avey, Paul Cusenza, and Anne Wojcicki. Jobs The Meaning Behind the Name who we are The name 23andMe refers to the 23 pairs of chromosomes that make up each individual's genome. 23andMe connects individuals to their unique, paired set of 23 chromosomes. Board of Directors Leadership Team For more information, please see our Corporate Fact Sheet. Research Team Editorial Advisors Questions & Feedback Scientific Advisory Board visit customercare.23andme.com

Media Contacts WCG Kendra Brogden [email protected] 415-658-9765

Tracy Garcia [email protected] 310-862-1334

Business Development Contacts [email protected]

Investors The company has received Series A, B, C and D funding from several prominent technology and health science companies, strategic angel investors and venture capital firms, including Yuri Milner, Johnson & Johnson Development Corporation (NYSE: JNJ), MPM Capital, The Roche Venture Fund (Swiss: RO.SW ), Google Ventures (NASDAQ: GOOG), and New Enterprise Associates, among others.

Google Ventures seeks to discover and help develop great companies — we believe in the power of entrepreneurs to do amazing things. Our investments range from seed to late stage, across a broad range of industries, including consumer Internet, software, hardware, clean tech, biotechnology and health care. We embrace the challenge of helping young companies grow from the proverbial garage to global relevance. The Google Ventures team includes entrepreneurs, investors and innovators, along with some 23,000+ exceptional Googlers whose breadth of knowledge, experience and creativity constitute perhaps our most valuable resource. For more information, visit www.google.com/ventures.

New Enterprise Associates (NEA) is a leading venture capital firm focused on helping entrepreneurs create and build major new enterprises that use technology to improve the way we live, work and play. Since its founding in 1978, the firm has adhered to the same core principles: supporting its entrepreneurs, providing an excellent return to its limited partners, and operating in accordance with the highest standards of integrity and respect. NEA focuses on investments at all stages of a company's development, from seed stage through IPO. With approximately $8.5 billion in committed capital, sign in register kit

welcome health ancestry how it works buy search help about 23andMe corporate info Team 23andMe Media Center Corporate Facts Core Values 23andMe, Inc. is a privately-held company dedicated to helping individuals understand their own genetic information Policy Forum using recent advances in DNA analysis technologies and web-based interactive tools. 23andMe enables individuals to Corporate Info gain deeper insights into personal ancestry, genealogy and inherited traits. 23andMe was founded in April 2006 by Platform Services Linda Avey, Paul Cusenza, and Anne Wojcicki. Jobs The Meaning Behind the Name who we are The name 23andMe refers to the 23 pairs of chromosomes that make up each individual's genome. 23andMe connects individuals to their unique, paired set of 23 chromosomes. Board of Directors Leadership Team For more information, please see our Corporate Fact Sheet. Research Team Editorial Advisors Questions & Feedback Scientific Advisory Board visit customercare.23andme.com

Media Contacts WCG Kendra Brogden [email protected] 415-658-9765

Tracy Garcia [email protected] 310-862-1334

Business Development Contacts [email protected]

Investors The company has received Series A, B, C and D funding from several prominent technology and health science companies, strategic angel investors and venture capital firms, including Yuri Milner, Johnson & Johnson Development Corporation (NYSE: JNJ), MPM Capital, The Roche Venture Fund (Swiss: RO.SW ), Google Ventures (NASDAQ: GOOG), and New Enterprise Associates, among others.

Google Ventures seeks to discover and help develop great companies — we believe in the power of entrepreneurs to do amazing things. Our investments range from seed to late stage, across a broad range of industries, including consumer Internet, software, hardware, clean tech, biotechnology and health care. We embrace the challenge of helping young companies grow from the proverbial garage to global relevance. The Google Ventures team includes entrepreneurs, investors and innovators, along with some 23,000+ exceptional Googlers whose breadth of knowledge, experience and creativity constitute perhaps our most valuable resource. For more information, visit www.google.com/ventures.

New Enterprise Associates (NEA) is a leading venture capital firm focused on helping entrepreneurs create and build major new enterprises that use technology to improve the way we live, work and play. Since its founding in 1978, the firm has adhered to the same core principles: supporting its entrepreneurs, providing an excellent return to its limited partners, and operating in accordance with the highest standards of integrity and respect. NEA focuses on investments at all stages of a company's development, from seed stage through IPO. With approximately $8.5 billion in committed capital, sign in register kit

welcome health ancestry how it works buy search help about 23andMe corporate info Team 23andMe Media Center Corporate Facts Core Values 23andMe, Inc. is a privately-held company dedicated to helping individuals understand their own genetic information Policy Forum using recent advances in DNA analysis technologies and web-based interactive tools. 23andMe enables individuals to Corporate Info gain deeper insights into personal ancestry, genealogy and inherited traits. 23andMe was founded in April 2006 by Platform Services Linda Avey, Paul Cusenza, and Anne Wojcicki. Jobs The Meaning Behind the Name who we are The name 23andMe refers to the 23 pairs of chromosomes that make up each individual's genome. 23andMe connects individuals to their unique, paired set of 23 chromosomes. Board of Directors Leadership Team For more information, please see our Corporate Fact Sheet. Research Team Editorial Advisors Questions & Feedback Scientific Advisory Board visit customercare.23andme.com

Media Contacts WCG Kendra Brogden [email protected] 415-658-9765

Tracy Garcia [email protected] 310-862-1334

Business Development Contacts [email protected]

Investors The company has received Series A, B, C and D funding from several prominent technology and health science companies, strategic angel investors and venture capital firms, including Yuri Milner, Johnson & Johnson Development Corporation (NYSE: JNJ), MPM Capital, The Roche Venture Fund (Swiss: RO.SW ), Google Ventures (NASDAQ: GOOG), and New Enterprise Associates, among others.

Google Ventures seeks to discover and help develop great companies — we believe in the power of entrepreneurs to do amazing things. Our investments range from seed to late stage, across a broad range of industries, including consumer Internet, software, hardware, clean tech, biotechnology and health care. We embrace the challenge of helping young companies grow from the proverbial garage to global relevance. The Google Ventures team includes entrepreneurs, investors and innovators, along with some 23,000+ exceptional Googlers whose breadth of knowledge, experience and creativity constitute perhaps our most valuable resource. For more information, visit www.google.com/ventures.

New Enterprise Associates (NEA) is a leading venture capital firm focused on helping entrepreneurs create and build major new enterprises that use technology to improve the way we live, work and play. Since its founding in 1978, the firm has adhered to the same core principles: supporting its entrepreneurs, providing an excellent return to its limited partners, and operating in accordance with the highest standards of integrity and respect. NEA focuses on investments at all stages of a company's development, from seed stage through IPO. With approximately $8.5 billion in committed capital, NEA's experienced management team has invested in more than 550 companies, of which more than 160 have gone public and more than 230 have been acquired. NEA has U.S.-based offices in Baltimore, Maryland; Chevy Chase, Maryland; and Menlo Park, California. In addition, New Enterprise Associates (India) Pvt. Ltd. has an office in Bangalore, India and New Enterprise Associates (Beijing) Ltd. has offices in Beijing and Shanghai, China. For additional information, visit www.nea.com.

MPM Capital is one of the world's largest life science-dedicated venture investors. With committed capital under management in excess of $2.5 billion, MPM Capital is uniquely structured to invest globally in healthcare innovation. More information is available at www.mpmcapital.com.

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© 2007-2013 23andMe, Inc. All Rights Reserved. Science Single-nucleotide polymorphism From Wikipedia, the free encyclopedia

A single-nucleotide polymorphism (SNP, pronounced snip; plural snips) is a DNA sequence variation occurring when a single nucleotide — A, T, C or G — in the genome (or other shared sequence) differs between members of a biological species or paired chromosomes in a human. For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. In this case we say that there are two alleles. Almost all common SNPs have only two alleles. The genomic distribution of SNPs is not homogenous; SNPs usually occur in non-coding regions more frequently than in coding regions or, in general, where natural selection is acting and fixating the allele of the SNP that constitutes the most favorable genetic adaptation.[1] Other factors, like genetic recombination and mutation rate, can also determine SNP density.[2]

SNP density can be predicted by the presence of microsatellites: AT microsatellites in particular are potent predictors of SNP density, with DNA molecule 1 differs from DNA long (AT)(n) repeat tracts tending to be found in regions of significantly molecule 2 at a single base-pair [3] reduced SNP density and low GC content. location (a C/T polymorphism).

Within a population, SNPs can be assigned a minor allele frequency — the lowest allele frequency at a locus that is observed in a particular population. This is simply the lesser of the two allele frequencies for single-nucleotide polymorphisms. There are variations between human populations, so a SNP allele that is common in one geographical or ethnic group may be much rarer in another.

These genetic variations between individuals (particularly in non-coding parts of the genome) are exploited in DNA fingerprinting, which is used in forensic science . Also, these genetic variations underlie differences in our susceptibility to disease. The severity of illness and the way our body responds to treatments are also manifestations of genetic variations. For example, a single base mutation in the APOE (apolipoprotein E) gene is associated with a higher risk for Alzheimer disease.[4]

Contents

1 Types 2 Use and importance 3 Examples 4 Databases 5 Nomenclature 6 SNP analysis 7 SNPs simulation 8 See also 9 Notes 10 References 11 External links !

23andMe, Inc. Fact Sheet

Company Profile 23andMe, Inc. is a leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools.

The company’s Personal Genome Service® enables individuals to gain deeper insights into their ancestry and inherited traits, as well as giving them the opportunity to advance genetic research through participation in 23andMe’s research studies. 23andMe, Inc. was founded in April 2006.

The Meaning Behind the Name The name 23andMe refers to the 23 pairs of chromosomes that make up each individual’s genome. 23andMe connects individuals to their unique, paired set of 23 chromosomes.

How the Service Works Joining 23andMe is easy – simply log in to www.23andMe.com, read our terms of service and privacy statement and proceed to our online store when you are ready to purchase the service. Within a few days you’ll receive a saliva sample collection kit in the mail, with straightforward instructions on how to provide a saliva sample. The kit arrives in a pre-addressed box into which you place the barcoded tube containing your saliva. If mailing from the United States, simply drop the box in any USPS mailbox. If mailing from outside the United States, follow the shipping instructions included with your kit. Your sample will arrive shortly thereafter at our contracted CLIA-certified laboratory for processing.

Upon receiving your sample, laboratory personnel will extract DNA from cells in your saliva. Your DNA is then processed on an Illumina® HumanOmniExpress array with significant customization by 23andMe, which analyzes more than one million SNPs (single nucleotide polymorphisms). What this means is that the laboratory process reads nearly one million specific points on your genome. An electronic data set is generated, encrypted and sent to 23andMe.

Approximately four to six weeks after your sample has been received by the lab, you will receive an email notification that your 23andMe genome profile is ready. Once logged in, you’ll have access to navigational tools that enable you to explore your genome and discover a whole new world of you.

© 2012 23andMe, Inc. www.23andme.com ! Vol 461|8 October 2009

Vol 461|8 October 2009 OPINIONNATURE|Vol 461|8 October 2009 OPINION OPINION An agenda for personalized medicine Pauline C. Ng, Sarah S. Murray, Samuel Levy and J. Craig Venter find differences in results from two direct-to- consumer genetics-testing companies. They therefore give nine recommendations to improve predictions.

An agenda for personalized medicineWhat gives two similar DTC estimate that 1% of markers in an ore than 1,000 DNA variants Two other majorTABLE concerns 1: PREDICTIONS are whether the FOR DISEASE RELATIVE Pauline C. Ng, Sarah S. Murray, Samuel Levy and J. Craig Venter find differences inassociated resultspredictions? with from diseases Coeliac two and traits direct-to- disease have predicted is one diseaseRISKS risks have FOR any FIVE clinical valid-INDIVIDUALSSUMMARY individual will violate the assump- beencondition identified1,2. Direct-to-consumer for which predictions ity, and how well a genetic variant correlates ● For seven diseases, 50% or less of the tion of perfect linkage disequilib- consumer genetics-testing companies. They therefore give nine recommendationsM to improve predictions. 4 (DTC) companiesagreed are harnessingbetween thesethe twodiscov- companieswith a specific Disease disease or condition . A F fewemale Apredictions Female B Femaleof two C companies Male D agreed Male E rium, and in these cases, using a eries by offeringfor DNA all five tests individualsthat provide insights in our individualsanaly- have alluded to getting different across five individuals surrogate marker would be mislead- into personal genetic traits and disease risks. predictions fromBreast different cancer DTC companies for↑↑ ● Companies ↑↑ should ↓↓ communicate ore than 1,000 DNA variants Two other major concerns are whether the Genetic testingsis. can For improve coeliac lifestyle disease, choices both compa-the same disease5,6. We compared the consist- high risks better and test for drug ing. Although this percentage seems 3 Coeliac disease ↓↓ ↓↓ ↓↓ ↓↓ ↓↓ associated with diseases and traits have predicted disease risks have any clinical valid- andSUMMARY increasenies preventive have screening one strong-effect. However, markerency of disease-risk predictions between the response markers small, hundreds of markers are been identified1,2. Direct-to-consumer ity, and how well a genetic variant correlates understanding● For sevenwith of diseases, the a high genetic odds 50% contribution ratio or less in toof common; thetwo DTC companiesColon cancer to see where differences == ● Community == should =↓ study↑↑ markers in= ↓ tested so there is likely to be at least M 4 human disease is far from complete. may arise (see Table 1). (DTC) companies are harnessing these discov- with a specific disease or condition . A few predictions of two companies agreed all ethnicities and look at behaviour There is debateNavigenics in the genetics also community reports on sevenBoth companiesCrohn’s report disease absolute risk,↓↑ after ↓↑ tests ↓↓ ↓↓ ↓= one error. Instead, direct genotyp- eries by offering DNA tests that provide insights individuals have alluded to getting different as toacross the usefulness additionalfive individuals of DTC markerstesting. Therefore, that 23andMe which is the probability that an individual ing of the disease-associated marker into personal genetic traits and disease risks. predictions from different DTC companies for we● compared Companies results should from two communicate DTC companies will develop a Heartdisease. attack Absolute risk is derived↓↓ agree between=↓ the= two↓ companies=↓ across the↑↑ Genetic testing can improve lifestyle choices the same disease5,6. We compared the consist- does not use. Thus, the number of would improve accuracy of risk (testhigh kits providedrisks better by genomics and test companies for drug from two parameters:Lupus ‘relative risk’ and ‘average↑↓ individuals. ↓↓ ↓↓ ↑= ↑= and increase preventive screening3. However, ency of disease-risk predictions between the 23andMeresponse in markersMountain markers inView, common California, does and not population neces- disease risk’. Relative risk is mod- A major contributor to the discrepancies in genotypes. Some DTC companies understanding of the genetic contribution to two DTC companies to see where differences Navigenics● Community insarily Foster correlateshouldCity, California) study with onmarkers better 13 dis- prediction inelled from anMacular individual’s degeneration genetics. Average↓↓ disease-risk ↓↓ predictions↑= is the↓↓ set of markers ↓↓ already target specific key markers human disease is far from complete. may arise (see Table 1). eases for 5 individuals.agreement. Despite However, this limited the data one strong-population disease risk varies depending on that each service chooses to use in calculat- not on the whole genome arrays or all ethnicities and look at behaviour Multiple sclerosis ↑↑ ↓↓ ↓↓ ↓↓ There is debate in the genetics community Both companies report absolute risk, set we find potential implications for personal- how one defines the population. For example, ing relative risk. Risk markers are determined ized aftermedicine. testseffect Here wemarker provide in recommenda- common betweenNavigenics distinguishes population disease from genome-wide association studies, which specific markers that have failed on as to the usefulness of DTC testing. Therefore, which is the probability that an individual Prostate cancer ↑↑ ↓↑ 10 tions to improveboth predictions companies and supportoccurs the in > 90%risk between of men and women (for example, survey hundreds of thousands or millions of the whole genome arrays . we compared results from two DTC companies will develop a disease. Absolute risk is derived agree between the two companies across the11 7 continued growthpeople of this with nascent coeliac industry. diseasemen and are more likely to have heart attacks than↓↑ markers across control ↑↓ and disease ↑↑ patients ↓↓. (test kits provided by genomics companies from two parameters: ‘relative risk’ and ‘average individuals. Psoriasis DTC genomeits risk scans allele are easy has to an get. odds Users ratiowomen), of 7 whereas 23andMe primarily takes Each marker has different possible alleles. Test pharmacogenomic markers. 23andMe in Mountain View, California, and population disease risk’. Relative risk is mod- orderA majortests online, contributor provide to saliva the discrepancies or a cheek into in account Restlessage (for example, legs incidence of=↓ Alleles↑↑ that occur ↓more= frequently↓↑ in disease ↑↑ Navigenics in Foster City, California) on 13 dis- elled from an individual’s genetics. Average swab,disease-risk and within(ref. predictions 12). a few The weeks isseven the 500,000– set markers of markers uniquerheumatoid arthritissyndrome increases with age). This patients are designated as risk alleles and An estimated 100,000 people die Nature 461, 724-726 (8 12 eases for 5 individuals. Despite this limited data population disease risk varies depending on 1,000,000that each of serviceto their Navigenics DNA chooses variant have to markers use modest in calculat-are effectsambiguity in the definition of a ‘population’ have odds ratios greater than 1. For example, annually in the United States from ↑↑ ↑↑ ↓↓ ↓↓ ↑↑ 14,15 set we find potential implications for personal- how one defines the population. For example, scanned.ingOctober 2009) | doi: relative Theand servicerisk. therefore Risk provider markers do then not are calculates affectdetermined theunderscores over- theRheumatoid caution one arthritis must exercise in Alzheimer’s disease patients, 38% of ApoE adverse drug reactions . Although a set of disease risks based on the customer’s when interpreting absolute risk results. alleles are the ApoE4 risk allele; this allele’s fre- ized medicine. Here we provide recommenda- Navigenics distinguishes population disease from10.1038/461724a; genome-wideall relative association risk prediction studies, which for this Type 2 diabetes ↓↓ =↓ ↓↓ ↑↓ 8 =↓ few drugs are labelled to require or tions to improve predictions and support the risk between men and women (for example, specificsurvey combination hundreds ofof markers,thousands and or presents millions ofEven after we removed the average popula- quency is only 14% in normal controls . The the results todisease the user online as much. (see graphic). Generally predic-tion risk variable we still found that only two- odds ratio for the ApoE4 risk allele is 3.7 (odds recommend genetic testing, con- continued growth of this nascent industry. men are more likely to have heart attacks than markersPublished online 7 across control and disease patients7. ↑ increased risk (RR > 1.05), ↓ decreased risk (relative risk (RR) < 0.95), = average risk (0.95 The accuracytions of DTCtended genome-scan to agree tests when thirds there of relative≤ RR risk ≤ 1.05). predictions First prediction qualitatively is from 23andMe; of exposure second predictionin cases, divided is from Navigenics. by odds of expo- sumers could find specific variants DTC genome scans are easy to get. Users women), whereas 23andMe primarily takes hasEach October been marker questioned. has2009 Itdifferent is our assessment possible that alleles. agree betweenDifferent 23andMe predictions and Navigenics are highlighted when in beige.sure in controls is (0.38/0.62)/(0.14/0.86)). The order tests online, provide saliva or a cheek into account age (for example, incidence of theAlleles accuracy that wasof occur the consensus raw more data isfrequently high. on Wethe found strong-effectin disease averaged across our five individuals (see Table greater the frequency disparity between dis- useful. Variants in drug metabolism swab, and within a few weeks 500,000– rheumatoid arthritis increases with age). This thatpatients the genotypes, aremarkers designated or particular for a disease.as riskDNA alleles bases and1). Certain diseases have better prediction ease patients and normal controls, the higher genes or recommended for test- 1,000,000 of their DNA variant markers are ambiguity in the definition of a ‘population’ observed,have odds of ratios anWhen individual’s greater the thanDTC markers 1. companies For from example, agreement did not than use others. the Forcurrent four diseases, literature the theindicates odds ratio that associated approximately with the allele. Con-ing by drug labels are informative and could scanned. The service provider then calculates underscores the caution one must exercise 23andMein Alzheimer’s andsame Navigenics disease strong-effect agreedpatients, more markers,38% than of ApoEpredictions we saw large between dif- the two60–65% companies of com- the heritabilityversely, alleles of conferringcoeliac disease protection is againstgreatly affect an individual’s treatment. Exam- 99.7% of the time. This is similar to accuracies pletely agree for all individuals. In contrast, for disease are observed less frequently in disease a set of disease risks based on the customer’s when interpreting absolute risk results. alleles are theferences ApoE4 inrisk prediction. allele; this allele’s A clear fre- example is the still unaccounted for. Therefore, the marker set ples include variants affecting the efficacy of specific combination of markers, and presents Even after we removed the average popula- reportedquency by is theonly genotyping 14% in normal companies. controls8. Theseven diseases, 50% or less of the predictions patients and have odds ratios less than 1. predicted disease risk for psoriasis. In one used to screen for diseaseDTC companies can miss harness unknown the same publiclyclopidogrel (used to reduce the risk of stroke the results to the user online (see graphic). tion risk variable we still found that only two- odds ratio for the ApoE4 risk allele is 3.7 (odds individual, 23andMe reports a relative risk of genetic factors, leadingavailable toresearch false tonegatives. decide which We markers or to heart attack) or tamoxifen (used to treat The accuracy of DTC genome-scan tests thirds of relative risk predictions qualitatively ofDIRECT-TO-CONSUMER exposure in cases, divided byMETHOD odds of expo- FOR CALCULATING DISEASE RISK include, and for the most part, could use the same 16 has been questioned. It is our assessment that agree between 23andMe and Navigenics when sure in controls4.02, is whereas (0.38/0.62)/(0.14/0.86)). Navigenics reports The a relative risk recommend thator DTC similar companies markers. Yet no report disease has the an identicalbreast cancer) . Most of the DTC companies the accuracy of the raw data is high. We found averaged across our five individuals (see Table greater theof frequency 1.25, more disparity than abetween threefold dis- difference. The proportion of the setgenetic of markers contribution between the two of DTCa dis- companiesare testing for some pharmacogenomic mark- Relative Known risk 17,18 that the genotypes, or particular DNA bases 1). Certain diseases have better prediction ease patientsdifference and normal is attributable controls, the torisk higher a marker unique to ease that can be attributedbecause each to company the markers has its ownused criteria ers for ; we encourage inclusion of as many of markers (e.g. 1.5) accepting a genome-wide association result into observed, of an individual’s markers from agreement than others. For four diseases, the the odds ratio23andMe associated whose with risk the allele.allele Con-has an odds ratio of in their15% test, and the proportion of the9,10 genetic these markers as possible. 23andMe and Navigenics agreed more than predictions between the two companies com- versely, alleles conferring protection against Absolute its relative risk calculation . Some markers are 2.8 (ref. 13). This marker ×is not included in the contribution that usedis still by both unknown. companies This for a particular is dif- disease. 99.7% of the time. This is similar to accuracies pletely agree for all individuals. In contrast, for disease are observed less frequently in disease disease risk Navigenics analysis becauseAverage the result does not ferent from reportingFor identical the genetic markers contribution and correlated markers,Agree on strong-effect markers. DTC com- reported by the genotyping companies. seven diseases, 50% or less of the predictions patients and have odds ratios less thanpopulation 1. the odds ratios are similar between the two DTC seem to pass Navigenics’disease publication risk require- versus the environmental contribution, which panies have agreed to use clinically validated GetDTC genotypes companies harnessUnknown the same(e.g. publicly 10%) companies (r = 0.98 for identical markers; r = 0.89 availablefrom saliva researchments forto geneticdecide marker which inclusion. markers to DTC companies emphasizefor correlated onmarkers). their Inwebsites. other words, oncemarkers for prediction, but not necessarily 19 DIRECT-TO-CONSUMER METHOD FOR CALCULATING DISEASE RISK include, and forAnother the mostfactors part,concern could isuse the the usesame of markers that DTC companies agree that a marker is predic-the same markers or number of markers . or similar markers.have uncertain Yet no disease odds has ratios an identical estimates. A marker Focus on high-risktive ofpredictions. disease, they tend Most to agree of theon its geneticThis lack of consensus leads to inconsistent set of markers between the two DTC companies contribution to disease predictions. Relative for type 2 diabetes that Navigenics uses has diseases predicted in the DTC reports imply results between DTC companies. As studies Known risk risk 724because each company has its own criteria for markers the highest odds ratio amongŸ)''0DXZd`ccXeG all of Navigen-lYc`j_\ijC`d`konly\[%8cci`^_kji a modest\j\im \[risk compared with the average are replicated, the number of markers and (e.g. 1.5) accepting a genome-wide association result into 15% ics’ type 2 diabetes9,10 markers as reported in the population (approximately 80% of reported better estimates of their odds ratios should its relative risk calculation . Some markers are Absolute literature. It therefore makes the strongest relative risks lie between 0.5 and 1.5). We rec- converge so that there is consensus to include a × disease risk 7724-72824-728 OpinionsOusedpinions byMHMH bothCNSCNS NEWN EcompaniesW NEW.inddNEW.indd 7247for24 a particular disease. 55/10/09/10/09 110:02:280:02:28 Average For identicalcontribution markers and to correlated the overall markers, disease prediction. ommend that DTC companies structure their marker. Because these studies will take time, a population the odds ratiosHowever, are similar Navigenics between the warns two DTC that the marker’s communications with users around diseases stopgap solution is for DTC companies to agree disease risk Get genotypes Unknown (e.g. 10%) companies effect(r = 0.98 is for statistically identical markers; insignificant r = 0.89 and may not and traits that have high-risk predictions. on using a core set of strong-effect markers to from saliva genetic for correlatedcontribute markers). to In disease. other words, The average once consumer is Customers could focus their lifestyle changes achieve better prediction consensus and con- factors DTC companiesunlikely agree to that appreciate a marker the is predic- significance, or lack based on these. However, if there is a low- sistent reporting to the consumer. tive of disease, they tend to agree on its genetic contributionthereof, to disease of predictions.this result. risk prediction for disease, a sense of security These findings lead us to propose the fol- should not be assumed because much of the Community recommendations 724 Ÿ)''0DXZd`ccXeGlYc`j_\ijC`d`k\[%8cci`^_kji\j\im\[ lowing recommendations for a personalized genetic contribution to disease risk has yet to Monitor behavioural outcomes. One of medicine research agenda. be understood. the fundamental questions with DTC tests is whether they modify consumers’ behav- 7724-72824-728 OpinionsOpinions MHMH CNSCNS NEWNEW NEW.inddNEW.indd 724724 Company recommendations55/10/09/10/09 110:02:280:02:28 Directly genotype risk markers. If the risk iour long term, and hence benefit lifestyle Report the genetic contribution for the marker in the published literature is not and health20. More public studies need to be markers tested. Currently, the markers that directly assayed by the DTC company, DTC funded to monitor behaviour resulting from have been discovered by genome-wide asso- companies currently use linkage disequilib- DTC testing to identify the best strategies for ciation studies do not explain the majority of rium (the non-random association of alle- using personal genomic data to improve an the genetic heritability of disease. For example, les) to choose a surrogate risk marker. We individual’s health. Studies are currently under

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7724-72824-728 OpinionsOpinions MHMH CNSCNS NEWNEW NEW.inddNEW.indd 725725 55/10/09/10/09 110:02:320:02:32 FDA Home Inspections, Compliance, Enforcement, and Criminal Investigations Enforcement Actions Warning Letters Inspections, Compliance, Enforcement, and Criminal Investigations 23andMe, Inc. 11/22/13

Public Health Service Department of Health and Human Services Food and Drug Administration 10903 New Hampshire Avenue

Silver Spring, MD 20993 Nov 22, 2013 Ann Wojcicki CEO 23andMe, Inc. 1390 Shoreline Way Mountain View, CA 94043

Document Number: GEN1300666 Re: Personal Genome Service (PGS)

WARNING LETTER

Dear Ms. Wojcicki,

The Food and Drug Administration (FDA) is sending you this letter because you are marketing the 23andMe Saliva Collection Kit and Personal Genome Service (PGS) without marketing clearance or approval in violation of the Federal Food, Drug and Cosmetic Act (the FD&C Act).

This product is a device within the meaning of section 201(h) of the FD&C Act, 21 U.S.C. 321(h), because it is intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease, or is intended to affect the structure or function of the body. For example, your company’s website at www.23andme.com/health (most recently viewed on November 6, 2013) markets the PGS for providing “health reports on 254 diseases and conditions,” including categories such as “carrier status,” “health risks,” and “drug response,” and specifically as a “first step in prevention” that enables users to “take steps toward mitigating serious diseases” such as diabetes, coronary heart disease, and breast cancer. Most of the intended uses for PGS listed on your website, a list that has grown over time, are medical device uses under section 201(h) of the FD&C Act. Most of these uses have not been classified and thus require premarket approval or de novo classification, as FDA has explained to you on numerous occasions.

Some of the uses for which PGS is intended are particularly concerning, such as assessments for BRCA-related genetic risk and drug responses (e.g., warfarin sensitivity, clopidogrel response, and 5-fluorouracil toxicity) because of the potential health consequences that could result from false positive or false negative assessments for high-risk indications such as these. 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. For example, false genotype results for your warfarin drug response test could have significant unreasonable risk of illness, injury, or death to the patient due to thrombosis or bleeding events that occur from treatment with a drug at a dose that does not provide the appropriately calibrated anticoagulant effect. These risks are typically mitigated by International Normalized Ratio (INR) management under a physician’s care. The risk of serious injury or death is known to be high when patients are either non-compliant or not properly dosed; combined with the risk that a direct-to-consumer test result may be used by a patient to self-manage, serious concerns are raised if test results are not adequately understood by patients or if incorrect test results are reported.

For example, your company’ website at www.23andme.com/health (most recently viewed on November 6, 2013) markets the PGS for providing “health reports on 254 diseases and condions,” including categories such as “carrier status,” “health risks,” and “drug response,” and specifically as a “first step in prevenon” that enables users to “take steps toward migang serious diseases” such as diabetes, coronary heart disease, and breast cancer. Most of the intended uses for PGS listed on your website, a list that has grown over me, are medical device uses under secon 201(h) of the FD&C Act. Most of these uses have not been classified and thus require premarket approva or de novo classificaon, as FDA has explained to you on numerous occasions. even aer these many interacons with 23andMe, we sll do not have any assurance that the firm has analycally or clinically validated the PGS for its intended uses, which have expanded from the uses that the fir idenfied in its submissions. In your leer dated January 9, 2013, you stated that the firm is “compleng the addional analycal and clinical validaons for the tests that have been submied” and is “planning extensive labeling studies that will take several months to complete.” Thus, months aer you submied your 510(k)s and more than 5 years aer you began markeng, you sll had not completed some of the studies and had not even started other studies necessary to support a markeng submission for the PGS.

Therefore, 23andMe must immediately disconnue markeng the PGS unl such me as it receives FDA markeng authorizaon for the device.

My first thought, “what is going on here, who is this stupid?” EXTENDED Cyber Monday Sale: Taste 6 amazing wines for just $6.95! Log in | Sign up | Connect | Help

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Matthew Herper, Forbes Staff I cover science and medicine, and believe this is biology's century.

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I’d like to be able to start here by railing against our Don't Worry Alabama Fans, Nick medical system, which prevents patients from getting Saban's Football Dynasty Is Still Alive data about our own bodies because of a paternalistic idea And Well +39,638 views that people can’t look at blood test results, no less genetic Amazon's Drone Announcement Is information, without a doctor being involved or the About Normalizing An Enormous government approving the exact language of the test. I’d Societal Disruption +36,479 views like to be able to argue that the Food and Drug + show more Administration is wantonly standing in the way of 23andMe CEO Anne entrepreneurism and innovation by cracking down on Wojcicki via CrunchBase 23andMe, a company that is just trying to give patients Matthew Herper the ability to know about their own DNA, to understand Forbes Staff Follow (1,159) their own health risks, and to participate in science.

I wish that was the story I’m about to write, but it’s not, and it all really comes I believe this is biology's century. I've covered science and medicine for Forbes from the Human down to one fact in the FDA’s brutally scathing warning letter to 23andMe, Genome Project through Vioxx to the blossoming the Google GOOG -0.13% -backed personal genetics startup. It’s this quote from DNA technology changing the world today. Email the letter by Ileana Elder, in the agency’s diagnostics division: “ FDA has not me, follow me on Twitter, circle me onGoogle Plus, or subscribe to my Facebook page. received any communication from 23andMe since May.”

MATTHEW HERPER’S POPULAR POSTS Really? In six months, a company choosing to work With Vaccines, Bill Gates Changes The World Again in a business in which it knows the FDA believes it 515,300 views has jurisdiction decided not to respond to the How Vaccines Have Changed Our World In One agency for six months? At a time when 23andMe Graphic 259,432 views

was going to be launching an advertising campaign The Truly Staggering Cost Of Inventing New Drugs to try to sign up a million people to its service? At a 240,833 views moment when Anne Wojcicki, the company’s chief Why Bill Gates Is A Hero And Donald Trump Is A executive, was going to be on the cover of Zero 183,717 views The FDA Just FastCompany talking about how 23andMe is What Bill Gates Says About Drug Companies 176,515 views Ruined Your Plans revolutionizing health care? And 23andMe thought

To Buy 23andMe's the FDA was just going to, I don’t know, not notice? MORE FROM MATTHEW HERPER DNA Test As A 23andMe’s business was never going to be selling genec test kits at $100 a pop; even if the company reaches its goal of selling 1 million kits cumulavely, that’s only $100 million in revenue, a small sum by the standards of biotech and play money at Google. But what a large enough database of people who were sharing not only genec informaon but informaon about their health and their bodies offered was something greater: a tool that could be used to find new genec connecons, for detecng drug side effects, maybe even for finding new diagnoscs or cures. That’s why 23andMe needs to get to 1 million kits sold – to build that database. That promise has brought on other investors, including Facebook billionaire Yuri Milner.

We need something like 23andMe to help develop systems for leng people know how to deal with this genec informaon, and for creang a world where people can actually start to deal with lots of health data. But outside of a crowd of libertarians and genoscen, the company does not have the polical support it needs for a fight against the FDA. And none of its high-minded ideals release it from the requirement the FDA wants to enforce: that a medical device has to work. I hope 23andMe and FDA can find a way to thread this needle, but this isn’t a promising start. About Us | RSS | Advertise | Contact Us

Home > Weblog Columns > In the Pipeline Weblog columns [select a blog]

ABOUT THIS AUTHOR In the Pipeline: Don't miss Derek Lowe's excellent commentary on drug discovery and the pharma industry in general at In the Pipeline RECENT ENTRIES › Science Gifts: Running Experiments at Home

› What You Can Publish After a « The Freshness Index | Main | Thanksgiving: Never Trust An Organic Shamectomy Chemist Who Can't Cook » › Merck's Drug Development in The New Yorker November 27, 2013 › Authorship For Sale. Papers For Sale. Everything For Sale. 23 And Me And the FDA › Eisai Cuts Back Posted by Derek

College chemistry, 1983 › Science Gifts: Medicinal As everyone will have heard the personal-genomics company 23 and Me Chemistry Books was told by the FDA to immediately stop selling their product, a direct-to- › Russian Soured Cabbage consumer DNA sequence readout. Reaction to this has been all over the › Thanksgiving:About Never Us Trust | RSS An | Advertise | Contact Us map. I'll pick a couple of the viewpoints to give you the idea. Organic Chemist Who Can't Cook From one direction, here's Matthew Herper's article, with the excellent title "23 And Stupid". Here's his intro, which makes his case well: › 23 And Me And the FDA Home > Weblog Columns > In the Pipeline Weblog columns [select a blog] › The Freshness Index ABOUT THIS AUTHOR In the Pipeline:I’d like to Don'tbe able miss to start Derek here Lowe's by railing excellent against commentary our on drug discovery and the pharma industry in general at In the Pipeline The 2002 Model medical system, which prevents patients from getting RECENT COMMENTS data about our own bodies because of a paternalistic [XML] RECENT ENTRIES idea that people can’t look at blood test results, no less › Lyle Langley on› Science Gifts: Running Merck's Drug DevelopmentExperiments in at Home genetic information, without a doctor being involved or The New Yorker the government approving the exact language of the › Gene Cash on › What You Can Publish After a test. I’d like to be able to argue that the Food and Drug « The Freshness Index | Main | Thanksgiving: Never Trust An OrganicScience Gifts: RunningShamectomy Administration is wantonly standing in the way of Experiments at Home Chemist Who Can't Cook » entrepreneurism and innovation by cracking down on › Merck's Drug Development in › Esteban on The New Yorker 23andMe, a company that is just trying to give patients Merck's Drug Development in November 27, 2013 The New Yorker the ability to know about their own DNA, to understand › Authorship For Sale. Papers After 10 years of blogging. . . their own health risks, and to participate in science. › Esteban on For Sale. Everything For Sale. 23 And Me And the FDA Merck's Drug Development in Derek Lowe, an Arkansan by I wish that was the story I’m about to write, but it’s not, The New Yorker › Eisai Cuts Back Posted by Derek birth, got his BA from Hendrix and it all really comes down to one fact in the FDA’s › Merckie on College and his PhD in organic › Science Gifts: Medicinal College chemistry, 1983 Merck's Drug Development in chemistry from Duke before brutally scathing warning letter to 23andMe, the As everyone will have heard the personal-genomics company 23 and TheMe New Yorker Chemistry Books spending time in Germany on a Google-backed personal genetics startup. It’s this quote Humboldt Fellowship on his post- was told by the FDA to immediately stop selling their product, a direct-to- from the letter by Ileana Elder, in the agency’s › Chemjobber on› Russian Soured Cabbage doc. He's worked for several consumer DNA sequence readout. Reaction to this has been all over theMerck's Drug Development in diagnostics division: “ FDA has not received any major pharmaceutical companies The New Yorker › Thanksgiving: Never Trust An So we can call that one the praccal view: "It map. I'll pick a couple of the viewpoints to give you the idea. since 1989 on drug discovery communication from 23andMe since May.” Organic Chemist Who Can't projects against schizophrenia, Cook Alzheimer's, diabetes, › CATEGORIES doesn't maer what you think about 23 and ME's So Fromwe can one call direction,that one the here's practical Matthew view: "It Herper's doesn't matter article what, with you the excellent title osteoporosis and other diseases. › "Me Too" Drugs (27) [xml] › 23 And Me And the FDA To contact Derek email him think"23 about And 23 Stupid". and Me's Here's product, his and intro, it doesn't which matter makes what his you case think well: › Academia (vs. Industry) (111) product, and it doesn't maer what you think [xml] directly: [email protected] about the FDA. They're supposed to be working with the FDA, they knew it, › Aging and Lifespan› The (58) Freshness [xml] Index Twitter: Dereklowe I’d like to be able to start here by railing against our › Alzheimer's Disease (69) about the FDA. They're supposed to be working but they haven't done squat about it, so what did you expect the agency to [xml] do, anyway?". medicalFrom that, system, let's go towhich the idealistic prevents view patients, from economist from getting Alex › Analytical Chemistry (59) TheSearch 2002 ModelAmazon: RECENT COMMENTS with the FDA, they knew it, but they haven't done [xml] [XML] Tabarrok at Marginaldata about Revolution, our ownwho writesbodies just because the sort of of a article paternalistic that › Animal Testing (26) [xml] Herper deliberatelyidea passesthat people up the can’tchance look to: at blood test results, no less › Autism (22) [xml]› Lyle Langley on squat about it, so what did you expect the agency › Biological NewsMerck's (171) [xml] Drug Development in genetic information, without a doctor being involved or › Birth of an Idea The(43) New[xml] Yorker Let me be clear, I am not offended by all regulation of › Blink › (5) [xml] to do, anyway?". the government approving the exact language of the › Blog Housekeeping (208) genetic tests. Indeed, genetic tests are already › Gene Cash on [xml] Chemistry and Drug Data: test. I’d like to be able to argue that the Food and Drug regulated. To be precise, the labs that perform genetic › Book RecommendationsScience Gifts:(23) Running Drugbank Administration is wantonly standing in the way of [xml] Experiments at Home tests are regulated by the Clinical Laboratory entrepreneurism and innovation by cracking down on › Esteban on 23andMe, a company that is just trying to give patients Merck's Drug Development in The New Yorker the ability to know about their own DNA, to understand

After 10 years of blogging. . . their own health risks, and to participate in science. › Esteban on Merck's Drug Development in Derek Lowe, an Arkansan by I wish that was the story I’m about to write, but it’s not, The New Yorker birth, got his BA from Hendrix and it all really comes down to one fact in the FDA’s › Merckie on College and his PhD in organic Merck's Drug Development in chemistry from Duke before brutally scathing warning letter to 23andMe, the The New Yorker spending time in Germany on a Google-backed personal genetics startup. It’s this quote Humboldt Fellowship on his post- from the letter by Ileana Elder, in the agency’s › Chemjobber on doc. He's worked for several Merck's Drug Development in major pharmaceutical companies diagnostics division: “ FDA has not received any The New Yorker since 1989 on drug discovery communication from 23andMe since May.” projects against schizophrenia, Alzheimer's, diabetes, › CATEGORIES So we can call that one the practical view: "It doesn't matter what you osteoporosis and other diseases. › "Me Too" Drugs (27) [xml] To contact Derek email him think about 23 and Me's product, and it doesn't matter what you think › Academia (vs. Industry) (111) [xml] directly: [email protected] about the FDA. They're supposed to be working with the FDA, they knew it, › Aging and Lifespan (58) [xml] Twitter: Dereklowe › Alzheimer's Disease (69) but they haven't done squat about it, so what did you expect the agency to [xml] do, anyway?". From that, let's go to the idealistic view, from economist Alex › Analytical Chemistry (59) Search Amazon: [xml] Tabarrok at Marginal Revolution, who writes just the sort of article that › Animal Testing (26) [xml] Herper deliberately passes up the chance to: › Autism (22) [xml] › Biological News (171) [xml] › Birth of an Idea (43) [xml] Let me be clear, I am not offended by all regulation of › Blink › (5) [xml] › Blog Housekeeping (208) genetic tests. Indeed, genetic tests are already [xml] Chemistry and Drug Data: regulated. To be precise, the labs that perform genetic › Book Recommendations (23) Drugbank [xml] tests are regulated by the Clinical Laboratory Let me be clear, I am not offended by all regulation of genetic tests. Indeed, genetic tests are already regulated. To be precise, the labs that perform genetic tests are regulated by the Clinical Laboratory Improvement Amendments (CLIA) as overseen by the CMS (here is an excellent primer). The CLIA requires all labs, including the labs used by 23andMe, to be inspected for quality control, record keeping and the qualifications of their personnel. The goal is to ensure that the tests are accurate, reliable, timely, confidential Letand menot be risky clear, to patients.I am not Ioffended am not offended by all regulation when the of goal genetic of regulation tests. Indeed, is to help genetic consumers tests are buy already the product regulated.that they have To be contracted precise, theto buy. labs that perform genetic tests are regulated by the Clinical Laboratory Improvement Amendments (CLIA) as overseen by the CMS (here is an excellent primer). The CLIA requires What the FDA wants to do is categorically different. The FDA wants to regulate genetic tests as a high-risk allmedical labs, includingdevice that the cannot labs usedbe sold by until23andMe and unless, to be the inspected FDA permits for quality it be control,sold. record keeping and the qualifications of their personnel. The goal is to ensure that the tests are accurate, reliable, timely, confidential andMoreover, not risky the to FDA patients. wants I toam judge not offended not the analytic when the validity goal ofof regulationthe tests, whether is to help the consumers tests accurately buy the read product the thatgenetic they code have as contracted the firms promiseto buy. (already regulated under the CLIA) but the clinical validity, whether particular identified alleles are causal for conditions or disease. The latter requirement is the death-knell for Whatthe products the FDA because wants ofto thedo isexpense categorically and time different. it takes toThe prove FDA specific wants togenes regulate are causal genetic for tests diseases. as a high-risk medicalMoreover, device it means that cannotthat firms be likesold 23andMe until and willunless not the be FDAable topermits tell consumers it be sold. about their own DNA but instead will only be allowed to offer a peek at the sections of code that the FDA has deemed it ok for Moreover,consumers theto see. FDA wants to judge not the analytic validity of the tests, whether the tests accurately read the genetic code as the firms promise (already regulated under the CLIA) but the clinical validity, whether particularAlternatively, identified firms mayalleles be areallowed causal to for sequence conditions a consumer’s or disease. genetic The latter code requirement and even report is the it death-knellto them but for thethey products will not becausebe allowed of theto tellexpense consumers and time what it thetakes letters to prove mean. specific Here is genes why Iare think causal the FDA’sfor diseases. actions are Moreover,unconstitutional. it means Reading that firms an individual’s like 23andMe code will is safenot beand able effective. to tell consumersInterpreting about the code their and own communicating DNA but insteadopinions will about only it bemay allowed or may to not offer be safe–justa peek at likethe sectionsall communication–but of code that the it FDAfalls squarelyhas deemed under it ok the for First consumersAmendment. to see.

Alternatively,The FDA also firmshas the may relationship be allowed between to sequence testing a andconsumer’s clinical validitygenetic ass-backward.code and even Thereport FDA it to wants them to but say theyno to will testing not untilbe allowed clinical to validity tell consumers is established what butthe letterswe are mean.never goingHere isto why discover I think clinical the FDA’s validity actions until arewe unconstitutional.have mass testing. Reading 23andMe an isindividual’s attempting codeto leverage is safe individualsand effective. thirst Interpreting for knowledge the code about and themselves communicating into opinionsa big data about project it maythat willor may discover not be entirely safe–just new like connections all communication–but between genotype it falls and squarely phenotype. under But the First Amendment.personalized medicine, just like personalized movie recommendations, only works with databases of millions. In the 20th century we took on many of our common diseases but it is now time to take on the Theuncommon FDA also diseases. has the There relationship are some between 7,000 knowntesting diseasesand clinical and validityonly about ass-backward. 500 have a treatment. The FDA Individualwants to say noand to disease testing heterogeneity until clinical validityis so large is thatestablished even the but diseases we are that never we goingcan treat to discover are often clinical not treated validity well. until New we haveapproaches mass testing. are necessary 23andMe for isprogress. attempting The to collection leverage of individuals large amounts thirst of for DNA knowledge data is not about the themselveslast step of into apersonalized big data project medicine that will but thediscover first and entirely by pushing new connections back against between the first genotype steps the andFDA phenotype. is delaying But the personalizedpromise and progressmedicine, of just personalized like personalized medicine. movie recommendations, only works with databases of millions. In the 20th century we took on many of our common diseases but it is now time to take on the uncommonFull Disclosure diseases.: The ThereFDA’s are threat some to 7,000regulate known genetic diseases tests in and 2010 only made about me 500 spitting have mad a treatment. so I put thatIndividual spit to andgood disease use and heterogeneity became a 23andMe is so large customer. that even Well the worth diseases it, if that only we to canpoint treat out areto my often wife not that treated contrary well. to New all approachesevidence I am are in necessary fact only for 2.2% progress. Neanderthal. The collection of large amounts of DNA data is not the last step of personalized medicine but the first and by pushing back against the first steps the FDA is delaying the promise 188 and comments progress of personalized1028 medicine. 2456 Reddit 299 4289

FullNext Disclosure Comments: →The FDA’s threat to regulate genetic tests in 2010 made me spitting mad so I put that spit to good use and became a 23andMe customer. Well worth it, if only to point out to my wife that contrary to all evidenceTyler Cowen I am November in fact only 26, 2.2% 2013 Neanderthal. at 7:35 am

188Here comments is a good piece by a 1028doctor on the decision:2456 http://slatestarcodex.com/2013/11/26/a-letter-i-will- Reddit 299 4289 probably-send-to-the-fda/ Next Comments → Reply Tyler Cowen November 26, 2013 at 7:35 am

Here is a good piece by a doctor on the decision: http://slatestarcodex.com/2013/11/26/a-letter-i-will- probably-send-to-the-fda/

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Home > Weblog Columns > In the Pipeline Weblog columns [select a blog]

ABOUT THIS AUTHOR In the Pipeline: Don't miss Derek Lowe's excellent commentary on drug discovery and the pharma industry in general at In the Pipeline RECENT ENTRIES › Science Gifts: Running Experiments at Home

› What You Can Publish After a « The Freshness Index | Main | Thanksgiving: Never Trust An Organic Shamectomy Chemist Who Can't Cook » › Merck's Drug Development in The New Yorker November 27, 2013 › Authorship For Sale. Papers For Sale. Everything For Sale. 23 And Me And the FDA › Eisai Cuts Back Posted by Derek

College chemistry, 1983 › Science Gifts: Medicinal As everyone will have heard the personal-genomics company 23 and Me Chemistry Books was told by the FDA to immediately stop selling their product, a direct-to- › Russian Soured Cabbage consumer DNA sequence readout. Reaction to this has been all over the › Thanksgiving:About Never Us Trust | RSS An | Advertise | Contact Us map. I'll pick a couple of the viewpoints to give you the idea. Organic Chemist Who Can't Cook From one direction, here's Matthew Herper's article, with the excellent title "23 And Stupid". Here's his intro, which makes his case well: › 23 And Me And the FDA Home > Weblog Columns > In the Pipeline Weblog columns [select a blog] › The Freshness Index ABOUT THIS AUTHOR In the Pipeline:I’d like to Don'tbe able miss to start Derek here Lowe's by railing excellent against commentary our on drug discovery and the pharma industry in general at In the Pipeline The 2002 Model medical system, which prevents patients from getting RECENT COMMENTS data about our own bodies because of a paternalistic [XML] RECENT ENTRIES idea that people can’t look at blood test results, no less › Lyle Langley on› Science Gifts: Running Merck's Drug DevelopmentExperiments in at Home genetic information, without a doctor being involved or The New Yorker the government approving the exact language of the › Gene Cash on › What You Can Publish After a test. I’d like to be able to argue that the Food and Drug « The Freshness Index | Main | Thanksgiving: Never Trust An OrganicScience Gifts: RunningShamectomy Administration is wantonly standing in the way of Experiments at Home Chemist Who Can't Cook » entrepreneurism and innovation by cracking down on › Merck's Drug Development in › Esteban on The New Yorker 23andMe, a company that is just trying to give patients Merck's Drug Development in November 27, 2013 The New Yorker the ability to know about their own DNA, to understand › Authorship For Sale. Papers After 10 years of blogging. . . their own health risks, and to participate in science. › Esteban on For Sale. Everything For Sale. 23 And Me And the FDA Merck's Drug Development in Derek Lowe, an Arkansan by I wish that was the story I’m about to write, but it’s not, The New Yorker › Eisai Cuts Back Posted by Derek birth, got his BA from Hendrix and it all really comes down to one fact in the FDA’s › Merckie on College and his PhD in organic › Science Gifts: Medicinal College chemistry, 1983 Merck's Drug Development in chemistry from Duke before brutally scathing warning letter to 23andMe, the As everyone will have heard the personal-genomics company 23 and TheMe New Yorker Chemistry Books spending time in Germany on a Google-backed personal genetics startup. It’s this quote Humboldt Fellowship on his post- was told by the FDA to immediately stop selling their product, a direct-to- from the letter by Ileana Elder, in the agency’s › Chemjobber on› Russian Soured Cabbage doc. He's worked for several consumer DNA sequence readout. Reaction to this has been all over theMerck's Drug Development in diagnostics division: “ FDA has not received any major pharmaceutical companies The New Yorker › Thanksgiving: Never Trust An As much as I might agree with Alex map. I'll pick Tabarroka couple of in principle, I think he's missing a key the viewpoints to give you the idea. since 1989 on drug discovery communication from 23andMe since May.” Organic Chemist Who Can't projectspoint here. The FDA is not telling everyone that they don't own their own DNA against schizophrenia, Cook Alzheimer's, diabetes, › CATEGORIES So Fromwe can one call direction,that one the here's practical Matthew view: "It Herper's doesn't matter article what, with you the excellent title osteoporosisinformaon, and that they can't see it unless the agency lets them. The agency is and other diseases. › "Me Too" Drugs (27) [xml] › 23 And Me And the FDA To contact Derek email him think"23 about And 23 Stupid". and Me's Here's product, his and intro, it doesn't which matter makes what his you case think well: › Academia (vs. Industry) (111) saying that 23 and Me can certainly make a business out of selling people their own [xml] › The Freshness Index directly:DNA sequence informaon, but if they do so by explicitly claiming medical benefits [email protected] about the FDA. They're supposed to be working with the FDA, they knew it, › Aging and Lifespan (58) [xml] Twitter: Dereklowe I’d like to be able to start here by railing against our › Alzheimer's Disease (69) or diagnosc uses, then their business will fall under the FDA's jurisdicon. From but they haven't done squat about it, so what did you expect the agency to [xml] do, anyway?". medicalFrom that, system, let's go towhich the idealistic prevents view patients, from economist from getting Alex › Analytical Chemistry (59) TheSearch 2002 ModelAmazon: RECENT COMMENTS their leer, it appears that they have been telling the company this over and over for [xml] [XML] Tabarrok at Marginaldata about Revolution, our ownwho writesbodies just because the sort of of a article paternalistic that › Animal Testing (26) [xml] several years now, during which 23 and Me has, apparently, been dragging their feet Herper deliberatelyidea passesthat people up the can’tchance look to: at blood test results, no less › Autism (22) [xml]› Lyle Langley on › Biological NewsMerck's (171) [xml] Drug Development in and trying to have it both ways. genetic information, without a doctor being involved or › Birth of an Idea The(43) New[xml] Yorker Let me be clear, I am not offended by all regulation of › Blink › (5) [xml] the government approving the exact language of the › Blog Housekeeping (208) genetic tests. Indeed, genetic tests are already › Gene Cash on [xml] Chemistry and Drug Data: test. I’d like to be able to argue that the Food and Drug regulated. To be precise, the labs that perform genetic › Book RecommendationsScience Gifts:(23) Running Drugbank Administration is wantonly standing in the way of [xml] Experiments at Home tests are regulated by the Clinical Laboratory entrepreneurism and innovation by cracking down on › Esteban on 23andMe, a company that is just trying to give patients Merck's Drug Development in The New Yorker the ability to know about their own DNA, to understand

After 10 years of blogging. . . their own health risks, and to participate in science. › Esteban on Merck's Drug Development in Derek Lowe, an Arkansan by I wish that was the story I’m about to write, but it’s not, The New Yorker birth, got his BA from Hendrix and it all really comes down to one fact in the FDA’s › Merckie on College and his PhD in organic Merck's Drug Development in chemistry from Duke before brutally scathing warning letter to 23andMe, the The New Yorker spending time in Germany on a Google-backed personal genetics startup. It’s this quote Humboldt Fellowship on his post- from the letter by Ileana Elder, in the agency’s › Chemjobber on doc. He's worked for several Merck's Drug Development in major pharmaceutical companies diagnostics division: “ FDA has not received any The New Yorker since 1989 on drug discovery communication from 23andMe since May.” projects against schizophrenia, Alzheimer's, diabetes, › CATEGORIES So we can call that one the practical view: "It doesn't matter what you osteoporosis and other diseases. › "Me Too" Drugs (27) [xml] To contact Derek email him think about 23 and Me's product, and it doesn't matter what you think › Academia (vs. Industry) (111) [xml] directly: [email protected] about the FDA. They're supposed to be working with the FDA, they knew it, › Aging and Lifespan (58) [xml] Twitter: Dereklowe › Alzheimer's Disease (69) but they haven't done squat about it, so what did you expect the agency to [xml] do, anyway?". From that, let's go to the idealistic view, from economist Alex › Analytical Chemistry (59) Search Amazon: [xml] Tabarrok at Marginal Revolution, who writes just the sort of article that › Animal Testing (26) [xml] Herper deliberately passes up the chance to: › Autism (22) [xml] › Biological News (171) [xml] › Birth of an Idea (43) [xml] Let me be clear, I am not offended by all regulation of › Blink › (5) [xml] › Blog Housekeeping (208) genetic tests. Indeed, genetic tests are already [xml] Chemistry and Drug Data: regulated. To be precise, the labs that perform genetic › Book Recommendations (23) Drugbank [xml] tests are regulated by the Clinical Laboratory

Video Value Proposition = Transform DNA to the data for genetic related disease prediction + Web-based interface + Fast and easy service Why is a Prominent Investor? 23andme SWOT Strength

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• Uncertainty in database

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• Return on Investment is too long

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• Many complementors

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