Dawn Nafus (ed.)
- Published in print:
- 2016
- Published Online:
- January 2017
- ISBN:
- 9780262034173
- eISBN:
- 9780262334549
- Item type:
- book
- Publisher:
- The MIT Press
- DOI:
- 10.7551/mitpress/9780262034173.001.0001
- Subject:
- Information Science, Communications
Today anyone can purchase technology that can track, quantify, and measure the body and its environment. Wearable or portable sensors detect heart rates, glucose levels, steps taken, water quality, ...
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Today anyone can purchase technology that can track, quantify, and measure the body and its environment. Wearable or portable sensors detect heart rates, glucose levels, steps taken, water quality, genomes, and microbiomes, and turn them into electronic data. Is this phenomenon empowering, or a new form of social control? Who volunteers to enumerate bodily experiences, and who is forced to do so? Who interprets the resulting data? How does all this affect the relationship between medical practice and self care, between scientific and lay knowledge? Quantified examines these and other issues that arise when biosensing technologies become part of everyday life. The book offers a range of perspectives, with views from the social sciences, cultural studies, journalism, industry, and the nonprofit world. The contributors consider data, personhood, and the urge to self-quantify; legal, commercial, and medical issues, including privacy, the outsourcing of medical advice, and self-tracking as a “paraclinical” practice; and technical concerns, including interoperability, sociotechnical calibration, alternative views of data, and new space for design. Contributors: Marc Böhlen, Geoffrey C. Bowker, Sophie Day, Anna de Paula Hanika, Deborah Estrin, Brittany Fiore-Gartland, Dana Greenfield, Judith Gregory, Mette Kragh-Furbo, Celia Lury, Adrian Mackenzie, Rajiv Mehta, Maggie Mort, Dawn Nafus, Gina Neff, Helen Nissenbaum, Heather Patterson, Celia Roberts, Jamie Sherman, Alex Taylor, Gary WolfLess
Today anyone can purchase technology that can track, quantify, and measure the body and its environment. Wearable or portable sensors detect heart rates, glucose levels, steps taken, water quality, genomes, and microbiomes, and turn them into electronic data. Is this phenomenon empowering, or a new form of social control? Who volunteers to enumerate bodily experiences, and who is forced to do so? Who interprets the resulting data? How does all this affect the relationship between medical practice and self care, between scientific and lay knowledge? Quantified examines these and other issues that arise when biosensing technologies become part of everyday life. The book offers a range of perspectives, with views from the social sciences, cultural studies, journalism, industry, and the nonprofit world. The contributors consider data, personhood, and the urge to self-quantify; legal, commercial, and medical issues, including privacy, the outsourcing of medical advice, and self-tracking as a “paraclinical” practice; and technical concerns, including interoperability, sociotechnical calibration, alternative views of data, and new space for design. Contributors: Marc Böhlen, Geoffrey C. Bowker, Sophie Day, Anna de Paula Hanika, Deborah Estrin, Brittany Fiore-Gartland, Dana Greenfield, Judith Gregory, Mette Kragh-Furbo, Celia Lury, Adrian Mackenzie, Rajiv Mehta, Maggie Mort, Dawn Nafus, Gina Neff, Helen Nissenbaum, Heather Patterson, Celia Roberts, Jamie Sherman, Alex Taylor, Gary Wolf
Sylvia Richardson, Leonardo Bottolo, and Jeffrey S. Rosenthal
- Published in print:
- 2011
- Published Online:
- January 2012
- ISBN:
- 9780199694587
- eISBN:
- 9780191731921
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199694587.003.0018
- Subject:
- Mathematics, Probability / Statistics
This paper considers the task of building efficient regression models for sparse multivariate analysis of high dimensional data sets, in particular it focuses on cases where the numbers q of ...
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This paper considers the task of building efficient regression models for sparse multivariate analysis of high dimensional data sets, in particular it focuses on cases where the numbers q of responses Y = ( y k ,1 ≤ k ≤ q) and p of predictors X = ( x j , 1 ≤ j ≤ p) to analyse jointly are both large with respect to the sample size n, a challenging bi‐directional task. The analysis of such data sets arise commonly in genetical genomics, with X linked to the DNA characteristics and Y corresponding to measurements of fundamental biological processes such as transcription, protein or metabolite production. Building on the Bayesian variable selection set‐up for the linear model and associated efficient MCMC algorithms developed for single responses, we discuss the generic framework of hierarchical related sparse regressions, where parallel regressions of y k on the set of covariates X are linked in a hierarchical fashion, in particular through the prior model of the variable selection indicators γ kj , which indicate among the covariates x j those which are associated to the response y k in each multivariate regression. Structures for the joint model of the γ kj , which correspond to different compromises between the aims of controlling sparsity and that of enhancing the detection of predictors that are associated with many responses (“hot spots”), will be discussed and a new multiplicative model for the probability structure of the γ kj will be presented. To perform inference for these models in high dimensional set‐ups, novel adaptive MCMC algorithms are needed. As sparsity is paramount and most of the associations expected to be zero, new algorithms that progressively focus on part of the space where the most interesting associations occur are of great interest. We shall discuss their formulation and theoretical properties, and demonstrate their use on simulated and real data from genomics.Less
This paper considers the task of building efficient regression models for sparse multivariate analysis of high dimensional data sets, in particular it focuses on cases where the numbers q of responses Y = ( y k ,1 ≤ k ≤ q) and p of predictors X = ( x j , 1 ≤ j ≤ p) to analyse jointly are both large with respect to the sample size n, a challenging bi‐directional task. The analysis of such data sets arise commonly in genetical genomics, with X linked to the DNA characteristics and Y corresponding to measurements of fundamental biological processes such as transcription, protein or metabolite production. Building on the Bayesian variable selection set‐up for the linear model and associated efficient MCMC algorithms developed for single responses, we discuss the generic framework of hierarchical related sparse regressions, where parallel regressions of y k on the set of covariates X are linked in a hierarchical fashion, in particular through the prior model of the variable selection indicators γ kj , which indicate among the covariates x j those which are associated to the response y k in each multivariate regression. Structures for the joint model of the γ kj , which correspond to different compromises between the aims of controlling sparsity and that of enhancing the detection of predictors that are associated with many responses (“hot spots”), will be discussed and a new multiplicative model for the probability structure of the γ kj will be presented. To perform inference for these models in high dimensional set‐ups, novel adaptive MCMC algorithms are needed. As sparsity is paramount and most of the associations expected to be zero, new algorithms that progressively focus on part of the space where the most interesting associations occur are of great interest. We shall discuss their formulation and theoretical properties, and demonstrate their use on simulated and real data from genomics.
Jennifer S. Singh
- Published in print:
- 2015
- Published Online:
- September 2016
- ISBN:
- 9780816698301
- eISBN:
- 9781452953694
- Item type:
- book
- Publisher:
- University of Minnesota Press
- DOI:
- 10.5749/minnesota/9780816698301.001.0001
- Subject:
- Sociology, Health, Illness, and Medicine
Multiple Autisms investigates the emergence of autism as a genetic disorder and why the search for autism genes became a research priority for private and public funding agencies in the U.S. since ...
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Multiple Autisms investigates the emergence of autism as a genetic disorder and why the search for autism genes became a research priority for private and public funding agencies in the U.S. since the late 20th century. This research is based on nine years of ethnographic observations, analysis of scientific and related literatures, and over seventy interviews with autism scientists, parents of a child with autism, and people on the autism spectrum. This book maps out the social history of parental activism in autism genetics, the scientific optimism and subsequent failure of finding a gene for autism, and the shift to viewing autism as multiple entities resulting from hundreds or thousands of genes interacting at the molecular level. The analysis also takes into account the social impacts of translating autism through a genomic lens from the perspective of people living with autism and their families. This book shows how despite the billion-dollar pursuit of finding a gene for autism, the understanding of this condition remains elusive and the utility of genetic information has limited value in the immediate lives of people living with autism.Less
Multiple Autisms investigates the emergence of autism as a genetic disorder and why the search for autism genes became a research priority for private and public funding agencies in the U.S. since the late 20th century. This research is based on nine years of ethnographic observations, analysis of scientific and related literatures, and over seventy interviews with autism scientists, parents of a child with autism, and people on the autism spectrum. This book maps out the social history of parental activism in autism genetics, the scientific optimism and subsequent failure of finding a gene for autism, and the shift to viewing autism as multiple entities resulting from hundreds or thousands of genes interacting at the molecular level. The analysis also takes into account the social impacts of translating autism through a genomic lens from the perspective of people living with autism and their families. This book shows how despite the billion-dollar pursuit of finding a gene for autism, the understanding of this condition remains elusive and the utility of genetic information has limited value in the immediate lives of people living with autism.
Mike Fortun
- Published in print:
- 2008
- Published Online:
- March 2012
- ISBN:
- 9780520247505
- eISBN:
- 9780520942615
- Item type:
- chapter
- Publisher:
- University of California Press
- DOI:
- 10.1525/california/9780520247505.003.0003
- Subject:
- Biology, Evolutionary Biology / Genetics
This chapter discusses how speed genomics spurred a complex political economy in Iceland, focusing on the experiences of three of the earliest genomics-based companies: Human Genome Sciences Inc., ...
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This chapter discusses how speed genomics spurred a complex political economy in Iceland, focusing on the experiences of three of the earliest genomics-based companies: Human Genome Sciences Inc., Incyte Pharmaceuticals (now Incyte Genomics), and Millennium Pharmaceuticals. Each company adopted different dance steps with their outsize partners in the pharmaceutical industry, but each participated in a kind of futures market for genomic information that would intensify over the remainder of the 1990s as more genomic companies, including eventually deCODE Genetics, stepped onto the dance floor. What can we learn from these three examples about the speed transforms of genomics? The first things that changed in the field were the size, type, and connectability of biodatabases. The disease targets transformed as well. The genetics approach that had yielded the single genes (and their variants) implicated in “simple disorders” such as Huntington's and cystic fibrosis had become a genomic approach addressed to “complex conditions” such as those targeted by Millennium: heart disease, asthma, and obesity.Less
This chapter discusses how speed genomics spurred a complex political economy in Iceland, focusing on the experiences of three of the earliest genomics-based companies: Human Genome Sciences Inc., Incyte Pharmaceuticals (now Incyte Genomics), and Millennium Pharmaceuticals. Each company adopted different dance steps with their outsize partners in the pharmaceutical industry, but each participated in a kind of futures market for genomic information that would intensify over the remainder of the 1990s as more genomic companies, including eventually deCODE Genetics, stepped onto the dance floor. What can we learn from these three examples about the speed transforms of genomics? The first things that changed in the field were the size, type, and connectability of biodatabases. The disease targets transformed as well. The genetics approach that had yielded the single genes (and their variants) implicated in “simple disorders” such as Huntington's and cystic fibrosis had become a genomic approach addressed to “complex conditions” such as those targeted by Millennium: heart disease, asthma, and obesity.
Brett A. Williams and Leslie E. Wolf
- Published in print:
- 2014
- Published Online:
- January 2015
- ISBN:
- 9780262027465
- eISBN:
- 9780262320825
- Item type:
- chapter
- Publisher:
- The MIT Press
- DOI:
- 10.7551/mitpress/9780262027465.003.0018
- Subject:
- Biology, Bioethics
Certificates of Confidentiality, a legal tool for protecting sensitive, identifiable research data, are recommended for genetic, genomics, and other biospecimen research. The proposed changes to the ...
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Certificates of Confidentiality, a legal tool for protecting sensitive, identifiable research data, are recommended for genetic, genomics, and other biospecimen research. The proposed changes to the US federal regulations governing human subjects research under the Advance Notice of Proposed Rule Making may make it more difficult for researchers to obtain a Certificate protections for this type of research. This chapter explores the potentially conflicting requirements of the ANPRM proposals and Certificates and makes recommendations to achieve the dual goals of appropriate consent and adequate confidentiality protections.Less
Certificates of Confidentiality, a legal tool for protecting sensitive, identifiable research data, are recommended for genetic, genomics, and other biospecimen research. The proposed changes to the US federal regulations governing human subjects research under the Advance Notice of Proposed Rule Making may make it more difficult for researchers to obtain a Certificate protections for this type of research. This chapter explores the potentially conflicting requirements of the ANPRM proposals and Certificates and makes recommendations to achieve the dual goals of appropriate consent and adequate confidentiality protections.
Carol Weil, Hilary Shutak, Benjamin Fombonne, and Nicole Lockhart
- Published in print:
- 2014
- Published Online:
- January 2015
- ISBN:
- 9780262027465
- eISBN:
- 9780262320825
- Item type:
- chapter
- Publisher:
- The MIT Press
- DOI:
- 10.7551/mitpress/9780262027465.003.0019
- Subject:
- Biology, Bioethics
The use of human biological samples in medical research has the potential to transform our understanding of health and disease in the age of the genome, but the collection and banking of samples for ...
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The use of human biological samples in medical research has the potential to transform our understanding of health and disease in the age of the genome, but the collection and banking of samples for currently unknowable future research purposes presents both ethical and legal challenges. Given the primacy of biospecimens in genomic research, it is critical to develop regulatory policies that appropriately balance public preferences about privacy and consent with the scientific imperatives of investigator access and broad data sharing. The Advanced Notice of Proposed Rulemaking (ANPRM) proposes a requirement for written informed consent for research uses of previously collected human biological samples. This chapter explores the impact of that regulatory proposal with respect to the ethics and operations of research involving biospecimens. It describes specific shortcomings of the current federal regulations protecting human biospecimens and associated data used in research, explains how proposed changes to consent procedures in the ANPRM could address these limitations while at the same time pose new challenges for health care institutions, and finally, sets forth the thesis that enhanced education and collaboration with participant communities would greatly improve implementation of the ANPRM’s written consent requirement for secondary uses of biospecimens in research.Less
The use of human biological samples in medical research has the potential to transform our understanding of health and disease in the age of the genome, but the collection and banking of samples for currently unknowable future research purposes presents both ethical and legal challenges. Given the primacy of biospecimens in genomic research, it is critical to develop regulatory policies that appropriately balance public preferences about privacy and consent with the scientific imperatives of investigator access and broad data sharing. The Advanced Notice of Proposed Rulemaking (ANPRM) proposes a requirement for written informed consent for research uses of previously collected human biological samples. This chapter explores the impact of that regulatory proposal with respect to the ethics and operations of research involving biospecimens. It describes specific shortcomings of the current federal regulations protecting human biospecimens and associated data used in research, explains how proposed changes to consent procedures in the ANPRM could address these limitations while at the same time pose new challenges for health care institutions, and finally, sets forth the thesis that enhanced education and collaboration with participant communities would greatly improve implementation of the ANPRM’s written consent requirement for secondary uses of biospecimens in research.
Christa Teston
- Published in print:
- 2017
- Published Online:
- September 2017
- ISBN:
- 9780226450520
- eISBN:
- 9780226450834
- Item type:
- chapter
- Publisher:
- University of Chicago Press
- DOI:
- 10.7208/chicago/9780226450834.003.0005
- Subject:
- History, History of Science, Technology, and Medicine
Genetic tests help us negotiate the uncertainty posed by a body’s inherited genetic legacy. In the United States, it has never before been more affordable and available. On what behind-the-scenes ...
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Genetic tests help us negotiate the uncertainty posed by a body’s inherited genetic legacy. In the United States, it has never before been more affordable and available. On what behind-the-scenes rhetorical tactics do genetic scientists and testing corporations rely, though? How do ancestries, geographies, environments, politics, economies, and technologies intra-act in the genetic backstage? This chapter deploys Adele Clarke’s situational analysis method in order to unearth how two genetic testing companies (23andMe, Inc. and Color Genomics, Inc.) employ next-generation genetic sequencing. Analyses reveal that genetic scientists enact a host of computational cuts that affect how genetic data are interpreted, how mutations are defined, and how disease risk is calculated. By mobilizing the explanatory power of Susan Leigh Star’s boundary infrastructure, the chapter describes how the choices a laboratory makes about which reference materials, analytic procedures, and algorithms they use ultimately render different results. The chapter concludes by discussing the ideological, economic, and algorithmic machines—or shadow work—that help to navigate genetic uncertainty. Readers are encouraged to interrogate politicized promises of a more personalized and precise approach to medical practice and to take care when choosing to purchase, use, and make medical decisions based on results from genetic tests.Less
Genetic tests help us negotiate the uncertainty posed by a body’s inherited genetic legacy. In the United States, it has never before been more affordable and available. On what behind-the-scenes rhetorical tactics do genetic scientists and testing corporations rely, though? How do ancestries, geographies, environments, politics, economies, and technologies intra-act in the genetic backstage? This chapter deploys Adele Clarke’s situational analysis method in order to unearth how two genetic testing companies (23andMe, Inc. and Color Genomics, Inc.) employ next-generation genetic sequencing. Analyses reveal that genetic scientists enact a host of computational cuts that affect how genetic data are interpreted, how mutations are defined, and how disease risk is calculated. By mobilizing the explanatory power of Susan Leigh Star’s boundary infrastructure, the chapter describes how the choices a laboratory makes about which reference materials, analytic procedures, and algorithms they use ultimately render different results. The chapter concludes by discussing the ideological, economic, and algorithmic machines—or shadow work—that help to navigate genetic uncertainty. Readers are encouraged to interrogate politicized promises of a more personalized and precise approach to medical practice and to take care when choosing to purchase, use, and make medical decisions based on results from genetic tests.
Sarah S. Richardson
- Published in print:
- 2013
- Published Online:
- May 2014
- ISBN:
- 9780226084688
- eISBN:
- 9780226084718
- Item type:
- chapter
- Publisher:
- University of Chicago Press
- DOI:
- 10.7208/chicago/9780226084718.003.0009
- Subject:
- History, History of Science, Technology, and Medicine
Chapters 9 and 10 marshal the book’s preceding historical discussion to motivate a critical discussion of this new genomic research on sex differences and to offer analytical tools and frameworks for ...
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Chapters 9 and 10 marshal the book’s preceding historical discussion to motivate a critical discussion of this new genomic research on sex differences and to offer analytical tools and frameworks for thinking about its implications and potential pitfalls. Chapter 9 opens up these issues through an analysis of a widely circulated claim that males and females differ genetically by “2 percent,” “greater than the difference between humans and chimpanzees,” and that males and females should be thought of as having “different genomes.” This chapter argues that genetic work on sex differences would do best to dispose of analogies between sexes and species and the corresponding construct of distinct “male” and “female” genomes. In its place, the author offers an alternative conceptualization of the sexes as a “dynamic dyadic kind,” a concept with methodological implications for genomic research on sex.Less
Chapters 9 and 10 marshal the book’s preceding historical discussion to motivate a critical discussion of this new genomic research on sex differences and to offer analytical tools and frameworks for thinking about its implications and potential pitfalls. Chapter 9 opens up these issues through an analysis of a widely circulated claim that males and females differ genetically by “2 percent,” “greater than the difference between humans and chimpanzees,” and that males and females should be thought of as having “different genomes.” This chapter argues that genetic work on sex differences would do best to dispose of analogies between sexes and species and the corresponding construct of distinct “male” and “female” genomes. In its place, the author offers an alternative conceptualization of the sexes as a “dynamic dyadic kind,” a concept with methodological implications for genomic research on sex.
Lundy Braun
- Published in print:
- 2014
- Published Online:
- August 2015
- ISBN:
- 9780816683574
- eISBN:
- 9781452949185
- Item type:
- book
- Publisher:
- University of Minnesota Press
- DOI:
- 10.5749/minnesota/9780816683574.001.0001
- Subject:
- History, History of Science, Technology, and Medicine
The spirometer is used routinely to diagnose respiratory disease in specialist and primary care settings, although most patients probably do not recognize the name of the device. An important feature ...
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The spirometer is used routinely to diagnose respiratory disease in specialist and primary care settings, although most patients probably do not recognize the name of the device. An important feature of spirometry is that numerical values produced with the device are routinely “corrected” for race and sometimes ethnicity. The “correction” factors for race and/or ethnicity are embedded seamlessly in the software and hardware of the spirometer, such that operators are generally unaware of the details of the correction process activated when they use the machine. The basis of this practice dates to Civil War anthropometrists and plantation physicians who reported lower lung capacity in blacks as compared to whites. This book explores the production of scientific ideas about the “vital capacity” of the lungs and social ideas about racial and ethnic difference from the mid-nineteenth century to the present through the mediating mechanisms of the spirometer. For reasons that this book examines, a century and a half of research investigations have converged on the idea that people labeled black – and most other groups worldwide – differ in the capacity of their lungs from people historically labeled white/European/Caucasian. Explanations for difference varies but notions of innate/genetic difference continue to shape the biomedical literature on lung capacity. If anything, the advent of genomics has brought a reinvigoration of ideas of innate difference in current research. Race correction continues to the present day.Less
The spirometer is used routinely to diagnose respiratory disease in specialist and primary care settings, although most patients probably do not recognize the name of the device. An important feature of spirometry is that numerical values produced with the device are routinely “corrected” for race and sometimes ethnicity. The “correction” factors for race and/or ethnicity are embedded seamlessly in the software and hardware of the spirometer, such that operators are generally unaware of the details of the correction process activated when they use the machine. The basis of this practice dates to Civil War anthropometrists and plantation physicians who reported lower lung capacity in blacks as compared to whites. This book explores the production of scientific ideas about the “vital capacity” of the lungs and social ideas about racial and ethnic difference from the mid-nineteenth century to the present through the mediating mechanisms of the spirometer. For reasons that this book examines, a century and a half of research investigations have converged on the idea that people labeled black – and most other groups worldwide – differ in the capacity of their lungs from people historically labeled white/European/Caucasian. Explanations for difference varies but notions of innate/genetic difference continue to shape the biomedical literature on lung capacity. If anything, the advent of genomics has brought a reinvigoration of ideas of innate difference in current research. Race correction continues to the present day.
Sarah S. Richardson
- Published in print:
- 2013
- Published Online:
- May 2014
- ISBN:
- 9780226084688
- eISBN:
- 9780226084718
- Item type:
- chapter
- Publisher:
- University of Chicago Press
- DOI:
- 10.7208/chicago/9780226084718.003.0010
- Subject:
- History, History of Science, Technology, and Medicine
History yields concrete insights about sex chromosome science that might be productively taken up by genetic researchers today. Three prescriptions follow from this book’s analysis. The first is to ...
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History yields concrete insights about sex chromosome science that might be productively taken up by genetic researchers today. Three prescriptions follow from this book’s analysis. The first is to reject the concept of different male and female genomes and formulate alternative frames for conceptualizing sex differences in the human genome. The second is to resist a sex chromosome-centric approach to the genetics of sex differences. The third is to consider sex-neutral alternatives to the terminology of “sex chromosomes” for the X and Y. Presently, genomics is becoming the descriptive mode for the science of sex differences. The author argues that this new research may reinscribe, with little reflection, old and problematic frameworks for understanding sex and gender in the new and authoritative language of genomics. The chapter documents widespread problems in study design, description and interpretation of results, and frameworks conceptualizing the interaction between sex and gender in genomic sex difference studies. The author emphasizes that rigorous study designs are required to substantiate claims of male-female sex differences in the human genome and that genetic sex difference studies must distinguish clearly between sex-linked and gender-linked factors in reporting findings of biological sex differences.Less
History yields concrete insights about sex chromosome science that might be productively taken up by genetic researchers today. Three prescriptions follow from this book’s analysis. The first is to reject the concept of different male and female genomes and formulate alternative frames for conceptualizing sex differences in the human genome. The second is to resist a sex chromosome-centric approach to the genetics of sex differences. The third is to consider sex-neutral alternatives to the terminology of “sex chromosomes” for the X and Y. Presently, genomics is becoming the descriptive mode for the science of sex differences. The author argues that this new research may reinscribe, with little reflection, old and problematic frameworks for understanding sex and gender in the new and authoritative language of genomics. The chapter documents widespread problems in study design, description and interpretation of results, and frameworks conceptualizing the interaction between sex and gender in genomic sex difference studies. The author emphasizes that rigorous study designs are required to substantiate claims of male-female sex differences in the human genome and that genetic sex difference studies must distinguish clearly between sex-linked and gender-linked factors in reporting findings of biological sex differences.
