Scott D. Grosse
- Published in print:
- 2009
- Published Online:
- May 2010
- ISBN:
- 9780195398441
- eISBN:
- 9780199776023
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195398441.003.0026
- Subject:
- Public Health and Epidemiology, Public Health, Epidemiology
This chapter outlines key methodological issues in collecting and analyzing data on outcomes in individuals with genetic disorders that are candidates for inclusion in screening panels, and reviews ...
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This chapter outlines key methodological issues in collecting and analyzing data on outcomes in individuals with genetic disorders that are candidates for inclusion in screening panels, and reviews the relevant literature for two disorders that have relatively abundant evidence. One disorder is medium-chain acyl-CoA dehydrogenase deficiency (MCADD), which is a fatty acid oxidation disorder that is the most common of the new disorders detected by mass-throughput MS/MS technology. MCADD has been the “poster child” for expanded newborn screening. The other disorder is cystic fibrosis (CF), which is also increasingly being added to screening panels.Less
This chapter outlines key methodological issues in collecting and analyzing data on outcomes in individuals with genetic disorders that are candidates for inclusion in screening panels, and reviews the relevant literature for two disorders that have relatively abundant evidence. One disorder is medium-chain acyl-CoA dehydrogenase deficiency (MCADD), which is a fatty acid oxidation disorder that is the most common of the new disorders detected by mass-throughput MS/MS technology. MCADD has been the “poster child” for expanded newborn screening. The other disorder is cystic fibrosis (CF), which is also increasingly being added to screening panels.
Scott D. Grosse
- Published in print:
- 2009
- Published Online:
- February 2010
- ISBN:
- 9780199547494
- eISBN:
- 9780191720055
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199547494.003.06
- Subject:
- Public Health and Epidemiology, Public Health, Epidemiology
Screening for metabolic, endocrine, and other diseases in newborns is performed through the laboratory analysis of dried blood spot specimens. This chapter reviews economic evaluations of newborn ...
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Screening for metabolic, endocrine, and other diseases in newborns is performed through the laboratory analysis of dried blood spot specimens. This chapter reviews economic evaluations of newborn dried blood spot screening strategies published during 2002-07, focusing on the cost-effectiveness of screening for cystic fibrosis, congenital adrenal hyperplasia, and medium chain acyl-CoA dehydrogenase deficiency (MCADD). The use of tandem mass spectrometry (MS/MS) to detect MCADD is presented in detail, through examinations of the costs of screening and medical management, and of outcomes, including quality-adjusted life year (QALY) measurement, disability, and mortality. Ways to generate higher quality evidence are presented. The chapter concludes with a discussion of the use of economic evaluations to inform newborn screening policies.Less
Screening for metabolic, endocrine, and other diseases in newborns is performed through the laboratory analysis of dried blood spot specimens. This chapter reviews economic evaluations of newborn dried blood spot screening strategies published during 2002-07, focusing on the cost-effectiveness of screening for cystic fibrosis, congenital adrenal hyperplasia, and medium chain acyl-CoA dehydrogenase deficiency (MCADD). The use of tandem mass spectrometry (MS/MS) to detect MCADD is presented in detail, through examinations of the costs of screening and medical management, and of outcomes, including quality-adjusted life year (QALY) measurement, disability, and mortality. Ways to generate higher quality evidence are presented. The chapter concludes with a discussion of the use of economic evaluations to inform newborn screening policies.
Kenneth A. Pass
- Published in print:
- 2000
- Published Online:
- September 2009
- ISBN:
- 9780195128307
- eISBN:
- 9780199864485
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195128307.003.0020
- Subject:
- Public Health and Epidemiology, Public Health, Epidemiology
This chapter discusses the lessons learned from newborn screening for phenylketonuria (PKU) in the U.S. Newborn screening is, conceptually, a simple public health program with well-defined goals. The ...
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This chapter discusses the lessons learned from newborn screening for phenylketonuria (PKU) in the U.S. Newborn screening is, conceptually, a simple public health program with well-defined goals. The implementation of a successful program requires many components outside the testing laboratory, extensive expertise in areas ranging from phlebotomy to genetic counseling, attention to innumerable details, and, above all, dedication by all staff involved. In terms of public health impact, newborn screening touches more lives daily than perhaps any other public health program, and its influence now extends far beyond the perinatal period.Less
This chapter discusses the lessons learned from newborn screening for phenylketonuria (PKU) in the U.S. Newborn screening is, conceptually, a simple public health program with well-defined goals. The implementation of a successful program requires many components outside the testing laboratory, extensive expertise in areas ranging from phlebotomy to genetic counseling, attention to innumerable details, and, above all, dedication by all staff involved. In terms of public health impact, newborn screening touches more lives daily than perhaps any other public health program, and its influence now extends far beyond the perinatal period.
Stefan Timmermans and Mara Buchbinder
- Published in print:
- 2012
- Published Online:
- September 2013
- ISBN:
- 9780226924977
- eISBN:
- 9780226924991
- Item type:
- chapter
- Publisher:
- University of Chicago Press
- DOI:
- 10.7208/chicago/9780226924991.003.0002
- Subject:
- Sociology, Health, Illness, and Medicine
This chapter introduces some of the stakeholders and the decisions that made the expansion of newborn screening possible. This expansion is defined as screening for additional disorders beyond the ...
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This chapter introduces some of the stakeholders and the decisions that made the expansion of newborn screening possible. This expansion is defined as screening for additional disorders beyond the recommended panel. The reason for attending to this implementation process is that it offers a powerful benchmark for examining the work in the clinic. It is argued here that the recurring problems that families and geneticists encountered in the clinic were largely hardwired into the way the expansion of newborn screening was implemented. The setup of newborn screening affected which conditions could be screened, how quickly parents could be informed of the results, who would help them interpret and understand the results, who would pay for screening, and what the ensuing medical care would be like.Less
This chapter introduces some of the stakeholders and the decisions that made the expansion of newborn screening possible. This expansion is defined as screening for additional disorders beyond the recommended panel. The reason for attending to this implementation process is that it offers a powerful benchmark for examining the work in the clinic. It is argued here that the recurring problems that families and geneticists encountered in the clinic were largely hardwired into the way the expansion of newborn screening was implemented. The setup of newborn screening affected which conditions could be screened, how quickly parents could be informed of the results, who would help them interpret and understand the results, who would pay for screening, and what the ensuing medical care would be like.
Richard S. Olney
- Published in print:
- 2000
- Published Online:
- September 2009
- ISBN:
- 9780195128307
- eISBN:
- 9780199864485
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195128307.003.0022
- Subject:
- Public Health and Epidemiology, Public Health, Epidemiology
This chapter provides a broad overview of public health aspects of newborn hemoglobinopathy screening in the United States, with special emphasis on epidemiologic efforts to evaluate pediatric ...
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This chapter provides a broad overview of public health aspects of newborn hemoglobinopathy screening in the United States, with special emphasis on epidemiologic efforts to evaluate pediatric outcomes after newborn screening. Despite controversies about cost-effectiveness and ethical quandaries of carrier identification and targeted versus universal approaches, newborn screening programs for hemoglobinopathies in the U.S. are firmly entrenched, at least in part because of strong epidemiological data suggesting that early identification of affected newborns is a rational policy. As prevention-oriented policies are directed toward large populations and manifestations of disease complications change, however, ongoing data collection is needed to ensure the effectiveness of these strategies at the community level.Less
This chapter provides a broad overview of public health aspects of newborn hemoglobinopathy screening in the United States, with special emphasis on epidemiologic efforts to evaluate pediatric outcomes after newborn screening. Despite controversies about cost-effectiveness and ethical quandaries of carrier identification and targeted versus universal approaches, newborn screening programs for hemoglobinopathies in the U.S. are firmly entrenched, at least in part because of strong epidemiological data suggesting that early identification of affected newborns is a rational policy. As prevention-oriented policies are directed toward large populations and manifestations of disease complications change, however, ongoing data collection is needed to ensure the effectiveness of these strategies at the community level.
Philip M. Farrell, Michael R. Kosorok, Michael J. Rock, Anita Laxova, Lan Zeng, Gary Hoffman, Ronald H. Laessig, and Mark L. Splaingard
- Published in print:
- 2000
- Published Online:
- September 2009
- ISBN:
- 9780195128307
- eISBN:
- 9780199864485
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195128307.003.0021
- Subject:
- Public Health and Epidemiology, Public Health, Epidemiology
This chapter illustrates how scientific studies can be used to facilitate public health policy decisions, particularly those concerned with newborn screening programs. More specifically, it reviews ...
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This chapter illustrates how scientific studies can be used to facilitate public health policy decisions, particularly those concerned with newborn screening programs. More specifically, it reviews the autosomal recessive hereditary disorder cystic fibrosis (CF) and describes how it has become a model disease for policy development in the application of molecular genetics testing to newborn screening. The chapter includes a summary of the salient characteristics of CF, with particular emphasis on epidemiologic and diagnostic considerations; a brief overview of the immunoreactive trypsinogen (IRT) and IRT/DNA tests used to facilitate CF diagnosis in the newborn period through screening; and detailed information on the unique features and results of the Wisconsin CF Neonatal Screening Project, including how and why it was planned, organized, and conducted to access the benefits, risks, and costs of CF neonatal screening.Less
This chapter illustrates how scientific studies can be used to facilitate public health policy decisions, particularly those concerned with newborn screening programs. More specifically, it reviews the autosomal recessive hereditary disorder cystic fibrosis (CF) and describes how it has become a model disease for policy development in the application of molecular genetics testing to newborn screening. The chapter includes a summary of the salient characteristics of CF, with particular emphasis on epidemiologic and diagnostic considerations; a brief overview of the immunoreactive trypsinogen (IRT) and IRT/DNA tests used to facilitate CF diagnosis in the newborn period through screening; and detailed information on the unique features and results of the Wisconsin CF Neonatal Screening Project, including how and why it was planned, organized, and conducted to access the benefits, risks, and costs of CF neonatal screening.
W. Harry Hannon, L. Omar Henderson, and Carol J. Bell
- Published in print:
- 2000
- Published Online:
- September 2009
- ISBN:
- 9780195128307
- eISBN:
- 9780199864485
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195128307.003.0013
- Subject:
- Public Health and Epidemiology, Public Health, Epidemiology
This chapter discusses quality assurance (QA) for newborn screening programs. It describes the Newborn Screening Quality Assurance Program (NSQAP) at the CDC in Atlanta, Georgia, which provides ...
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This chapter discusses quality assurance (QA) for newborn screening programs. It describes the Newborn Screening Quality Assurance Program (NSQAP) at the CDC in Atlanta, Georgia, which provides services for laboratories that use specimens of dried-blood spots (DBSs) to perform newborn screening tests. The mission of this program is to improve interlaboratory comparability and to work toward interlaboratory standardization.Less
This chapter discusses quality assurance (QA) for newborn screening programs. It describes the Newborn Screening Quality Assurance Program (NSQAP) at the CDC in Atlanta, Georgia, which provides services for laboratories that use specimens of dried-blood spots (DBSs) to perform newborn screening tests. The mission of this program is to improve interlaboratory comparability and to work toward interlaboratory standardization.
Stefan Timmermans and Mara Buchbinder
- Published in print:
- 2012
- Published Online:
- September 2013
- ISBN:
- 9780226924977
- eISBN:
- 9780226924991
- Item type:
- chapter
- Publisher:
- University of Chicago Press
- DOI:
- 10.7208/chicago/9780226924991.003.0001
- Subject:
- Sociology, Health, Illness, and Medicine
This book begins by showing how powerful the rationale for expanding newborn screening is, with its appeal residing in secondary prevention. Rather than treating children with devastating metabolic ...
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This book begins by showing how powerful the rationale for expanding newborn screening is, with its appeal residing in secondary prevention. Rather than treating children with devastating metabolic conditions, screening advocates hope to forestall the onset of symptoms. Newborn screening identifies infants who have a condition but are still asymptomatic and offers them preventive measures that may postpone symptom development. It presents as an example the story of Scott and Renee Baio. From a public health or medical perspective their ordeal does not count for much: their daughter Bailey’s case was included in a state database of false positives and this measure represents the only official record of her screening experience. The encounter with newborn screening shaped Scott and Renee’s young marriage, their charitable work, and their relationship with their daughter.Less
This book begins by showing how powerful the rationale for expanding newborn screening is, with its appeal residing in secondary prevention. Rather than treating children with devastating metabolic conditions, screening advocates hope to forestall the onset of symptoms. Newborn screening identifies infants who have a condition but are still asymptomatic and offers them preventive measures that may postpone symptom development. It presents as an example the story of Scott and Renee Baio. From a public health or medical perspective their ordeal does not count for much: their daughter Bailey’s case was included in a state database of false positives and this measure represents the only official record of her screening experience. The encounter with newborn screening shaped Scott and Renee’s young marriage, their charitable work, and their relationship with their daughter.
Muin J. Khoury, Wylie Burke, and Elizabeth Thomson (eds)
- Published in print:
- 2000
- Published Online:
- September 2009
- ISBN:
- 9780195128307
- eISBN:
- 9780199864485
- Item type:
- book
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195128307.001.0001
- Subject:
- Public Health and Epidemiology, Public Health, Epidemiology
With the accelerating discovery of human genes, public health professionals are increasingly confronted with a large body of scientific information that will guide public health action. Because the ...
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With the accelerating discovery of human genes, public health professionals are increasingly confronted with a large body of scientific information that will guide public health action. Because the broad mission of public health is to fulfill society's interest in assuring conditions in which people can be healthy, the integration of new genetic information in public health research, policy, and program development is unavoidable. Public health leadership is urgently needed to aid in the use of genetic information to improve health and prevent disease, and to address ethical, legal, and social issues resulting from inappropriate use of such information. In the not too-distant future, disease prevention and health promotion programs will routinely consider whether or not to use genetic information to help target behavioral, medical, or environmental intervention activities in order to maximize benefit and minimize costs and harm to individuals. In anticipation of the expected growth at the interface of genetics and public health, this book delineates a framework for the integration of advances in human genetics into public health practice. The book reviews public health genetics, and includes chapters on important general issues such as newborn and other genetic screening, the delivery of genetic services, and the ethical, legal, and social implications of the use of genetics within public health. It also reviews relevant clinical topics, the historical background, cross-cultural aspects, and communication issues. Contributors come from a wide range of fields including epidemiology, biostatistics, health policy and management, health services research, behavioral and social sciences, ethics, law, health economics, and laboratory sciences.Less
With the accelerating discovery of human genes, public health professionals are increasingly confronted with a large body of scientific information that will guide public health action. Because the broad mission of public health is to fulfill society's interest in assuring conditions in which people can be healthy, the integration of new genetic information in public health research, policy, and program development is unavoidable. Public health leadership is urgently needed to aid in the use of genetic information to improve health and prevent disease, and to address ethical, legal, and social issues resulting from inappropriate use of such information. In the not too-distant future, disease prevention and health promotion programs will routinely consider whether or not to use genetic information to help target behavioral, medical, or environmental intervention activities in order to maximize benefit and minimize costs and harm to individuals. In anticipation of the expected growth at the interface of genetics and public health, this book delineates a framework for the integration of advances in human genetics into public health practice. The book reviews public health genetics, and includes chapters on important general issues such as newborn and other genetic screening, the delivery of genetic services, and the ethical, legal, and social implications of the use of genetics within public health. It also reviews relevant clinical topics, the historical background, cross-cultural aspects, and communication issues. Contributors come from a wide range of fields including epidemiology, biostatistics, health policy and management, health services research, behavioral and social sciences, ethics, law, health economics, and laboratory sciences.
Greg Leigh
- Published in print:
- 2008
- Published Online:
- September 2008
- ISBN:
- 9780195368673
- eISBN:
- 9780199894161
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780195368673.003.0002
- Subject:
- Psychology, Developmental Psychology
This chapter focuses on two developments that will speed up change in the population profile of DHH children: early identification through universal newborn hearing screening (UNHS) and early ...
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This chapter focuses on two developments that will speed up change in the population profile of DHH children: early identification through universal newborn hearing screening (UNHS) and early cochlear implantation. Studies show that children identified through UNHS within the first weeks of life have superior development on a wide range of measures, both linguistic and social-emotional, compared with children whose hearing loss was identified at later ages. The literature also provides compelling evidence of an improved rate and level of spoken language development for most children with severe to profound sensory-neural deafness who receive a cochlear implant, provided that they receive consistent input in spoken language. The chapter argues for an alternative approach to early intervention, which seeks to identify — at the earliest possible stage — those children for whom spoken communication may not be entirely accessible and for whom signed communication will likely be necessary to ensure their linguistic, social, cognitive, and emotional development. It then seeks to provide those children with a program focusing on the development of both spoken and signed language (or communication).Less
This chapter focuses on two developments that will speed up change in the population profile of DHH children: early identification through universal newborn hearing screening (UNHS) and early cochlear implantation. Studies show that children identified through UNHS within the first weeks of life have superior development on a wide range of measures, both linguistic and social-emotional, compared with children whose hearing loss was identified at later ages. The literature also provides compelling evidence of an improved rate and level of spoken language development for most children with severe to profound sensory-neural deafness who receive a cochlear implant, provided that they receive consistent input in spoken language. The chapter argues for an alternative approach to early intervention, which seeks to identify — at the earliest possible stage — those children for whom spoken communication may not be entirely accessible and for whom signed communication will likely be necessary to ensure their linguistic, social, cognitive, and emotional development. It then seeks to provide those children with a program focusing on the development of both spoken and signed language (or communication).
Angela E. Raffle and J. A. Muir Gray
- Published in print:
- 2007
- Published Online:
- September 2009
- ISBN:
- 9780199214495
- eISBN:
- 9780191723742
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:oso/9780199214495.003.0005
- Subject:
- Public Health and Epidemiology, Public Health, Epidemiology
This chapter gives an understanding of the essential tasks involved in setting up a good quality screening programme. Newborn hearing screening is used as a case study. There is an old saying that ...
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This chapter gives an understanding of the essential tasks involved in setting up a good quality screening programme. Newborn hearing screening is used as a case study. There is an old saying that all you have to do to create an effective service is choose the right things to do, then do them right. Choosing the right screening involves assessing the evidence and making policy. Doing screening right means setting up a well ordered programme when screening is worthwhile, ensuring that the service is always of high quality, dealing effectively with problems, and making sure that when harm is more likely than benefit then screening does not happen. The chapter focuses on matters that are essential if screening is to achieve public health improvement — irrespective of where, and in what type of health system, it is being delivered.Less
This chapter gives an understanding of the essential tasks involved in setting up a good quality screening programme. Newborn hearing screening is used as a case study. There is an old saying that all you have to do to create an effective service is choose the right things to do, then do them right. Choosing the right screening involves assessing the evidence and making policy. Doing screening right means setting up a well ordered programme when screening is worthwhile, ensuring that the service is always of high quality, dealing effectively with problems, and making sure that when harm is more likely than benefit then screening does not happen. The chapter focuses on matters that are essential if screening is to achieve public health improvement — irrespective of where, and in what type of health system, it is being delivered.
Deirdre Madden
- Published in print:
- 2016
- Published Online:
- May 2016
- ISBN:
- 9780719099465
- eISBN:
- 9781526104410
- Item type:
- chapter
- Publisher:
- Manchester University Press
- DOI:
- 10.7228/manchester/9780719099465.003.0010
- Subject:
- Sociology, Culture
The chapter considers the ownership of newborn screening cards (also known as Guthrie cards) and the blood spots retained on them, the role of consent to the use of these cards and relevant data ...
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The chapter considers the ownership of newborn screening cards (also known as Guthrie cards) and the blood spots retained on them, the role of consent to the use of these cards and relevant data protection provisions which have resulted in challenges to their retention. The issues raised here also have relevance for biobanks and other existing archives of retained biological samples in hospitals and research facilities as similar questions arise in relation to those collections. The chapter recommends that legislation be introduced to exempt the newborn screening card collection from data protection legislation and to put in place a clear and robust governance framework to ensure that individual rights are protected to the greatest extent possible. These recommendations are also relevant to other collections of biological samples in which a strong argument exists for their retention for diagnostic purposes as well as for public healthLess
The chapter considers the ownership of newborn screening cards (also known as Guthrie cards) and the blood spots retained on them, the role of consent to the use of these cards and relevant data protection provisions which have resulted in challenges to their retention. The issues raised here also have relevance for biobanks and other existing archives of retained biological samples in hospitals and research facilities as similar questions arise in relation to those collections. The chapter recommends that legislation be introduced to exempt the newborn screening card collection from data protection legislation and to put in place a clear and robust governance framework to ensure that individual rights are protected to the greatest extent possible. These recommendations are also relevant to other collections of biological samples in which a strong argument exists for their retention for diagnostic purposes as well as for public health
Stefan Timmermans and Mara Buchbinder
- Published in print:
- 2012
- Published Online:
- September 2013
- ISBN:
- 9780226924977
- eISBN:
- 9780226924991
- Item type:
- book
- Publisher:
- University of Chicago Press
- DOI:
- 10.7208/chicago/9780226924991.001.0001
- Subject:
- Sociology, Health, Illness, and Medicine
It has been close to six decades since Watson and Crick discovered the structure of DNA and more than ten years since the human genome was decoded. Today, through the collection and analysis of a ...
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It has been close to six decades since Watson and Crick discovered the structure of DNA and more than ten years since the human genome was decoded. Today, through the collection and analysis of a small blood sample, every baby born in the United States is screened for more than fifty genetic disorders. Though the early detection of these abnormalities can potentially save lives, the test also has a high percentage of false positives—inaccurate results that can take a brutal emotional toll on parents before they are corrected. Now some doctors are questioning whether the benefits of these screenings outweigh the stress and pain they sometimes produce. This book evaluates the consequences and benefits of state-mandated newborn screening and the larger policy questions they raise about the inherent inequalities in American medical care that limit the effectiveness of this potentially lifesaving technology. Drawing on observations and interviews with families, doctors, and policy actors, the book provides an ethnographic study of how parents and geneticists resolve the many uncertainties in screening newborns.Less
It has been close to six decades since Watson and Crick discovered the structure of DNA and more than ten years since the human genome was decoded. Today, through the collection and analysis of a small blood sample, every baby born in the United States is screened for more than fifty genetic disorders. Though the early detection of these abnormalities can potentially save lives, the test also has a high percentage of false positives—inaccurate results that can take a brutal emotional toll on parents before they are corrected. Now some doctors are questioning whether the benefits of these screenings outweigh the stress and pain they sometimes produce. This book evaluates the consequences and benefits of state-mandated newborn screening and the larger policy questions they raise about the inherent inequalities in American medical care that limit the effectiveness of this potentially lifesaving technology. Drawing on observations and interviews with families, doctors, and policy actors, the book provides an ethnographic study of how parents and geneticists resolve the many uncertainties in screening newborns.
Stefan Timmermans and Mara Buchbinder
- Published in print:
- 2012
- Published Online:
- September 2013
- ISBN:
- 9780226924977
- eISBN:
- 9780226924991
- Item type:
- chapter
- Publisher:
- University of Chicago Press
- DOI:
- 10.7208/chicago/9780226924991.003.0003
- Subject:
- Sociology, Health, Illness, and Medicine
This chapter shows that the expansion of newborn screening has paradoxically launched some families onto diagnostic odysseys of an entirely different sort. Rather than diagnosing asymptomatic ...
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This chapter shows that the expansion of newborn screening has paradoxically launched some families onto diagnostic odysseys of an entirely different sort. Rather than diagnosing asymptomatic patients with clear-cut diseases, expanded newborn screening identified a distinct group of newborns with screening values lying outside a preset normal range that did not always clearly correlate with defined disease categories. We refer to these patients as patients-in-waiting because they hovered for extended periods of time under medical attention between sickness and health, or more precisely, between pathology and an undistinguished state of “normality.” A patient-in-waiting was treated as a patient in the medical encounter, but it was not always clear whether anything was wrong. The major issue facing a newborn patient-in-waiting was not only whether the baby would develop a metabolic disorder but also whether the screened condition was actually a disease.Less
This chapter shows that the expansion of newborn screening has paradoxically launched some families onto diagnostic odysseys of an entirely different sort. Rather than diagnosing asymptomatic patients with clear-cut diseases, expanded newborn screening identified a distinct group of newborns with screening values lying outside a preset normal range that did not always clearly correlate with defined disease categories. We refer to these patients as patients-in-waiting because they hovered for extended periods of time under medical attention between sickness and health, or more precisely, between pathology and an undistinguished state of “normality.” A patient-in-waiting was treated as a patient in the medical encounter, but it was not always clear whether anything was wrong. The major issue facing a newborn patient-in-waiting was not only whether the baby would develop a metabolic disorder but also whether the screened condition was actually a disease.
Jeffrey R. Botkin, Rebecca A. Anderson, and Erin Rothwell
- Published in print:
- 2012
- Published Online:
- May 2015
- ISBN:
- 9780199744206
- eISBN:
- 9780190267551
- Item type:
- chapter
- Publisher:
- Oxford University Press
- DOI:
- 10.1093/acprof:osobl/9780199744206.003.0039
- Subject:
- Philosophy, Moral Philosophy
This chapter focuses on the practice of newborn bloodspot screening, with particular emphasis on the challenges to the parens patriae doctrine and the allocation of public resources for such ...
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This chapter focuses on the practice of newborn bloodspot screening, with particular emphasis on the challenges to the parens patriae doctrine and the allocation of public resources for such endeavor. Nearly every newborn in the United States is screened for certain genetic diseases in order to identify children with serious and treatable conditions that respond to timely treatment. However, some programs screen for conditions for which no current treatment exists, and in some states, even when effective treatment is available, there is no provision for affected children to receive the necessary care. A further problem of justice is that parents are not adequately informed about what is being done and their consent for screening is rarely obtained. The chapter recommends changes in how these program are administered that would promote justice and improve transparency and trust in the health care system.Less
This chapter focuses on the practice of newborn bloodspot screening, with particular emphasis on the challenges to the parens patriae doctrine and the allocation of public resources for such endeavor. Nearly every newborn in the United States is screened for certain genetic diseases in order to identify children with serious and treatable conditions that respond to timely treatment. However, some programs screen for conditions for which no current treatment exists, and in some states, even when effective treatment is available, there is no provision for affected children to receive the necessary care. A further problem of justice is that parents are not adequately informed about what is being done and their consent for screening is rarely obtained. The chapter recommends changes in how these program are administered that would promote justice and improve transparency and trust in the health care system.
Daniel Navon
- Published in print:
- 2019
- Published Online:
- May 2020
- ISBN:
- 9780226638096
- eISBN:
- 9780226638126
- Item type:
- chapter
- Publisher:
- University of Chicago Press
- DOI:
- 10.7208/chicago/9780226638126.003.0006
- Subject:
- History, History of Science, Technology, and Medicine
In order to illustrate how advocates are mobilizing mutations today, this chapter delves into the patient advocacy network organized around 22q11.2 Deletion Syndrome. Activists still face a range of ...
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In order to illustrate how advocates are mobilizing mutations today, this chapter delves into the patient advocacy network organized around 22q11.2 Deletion Syndrome. Activists still face a range of deep-seated obstacles—especially in fields that are resistant to genomic designation—leaving conditions like 22q11.2DS underrecognized and many patients undiagnosed. This chapter shows how 22q11.2DS advocates have made huge strides courting allies and expert-activists, advancing awareness among key constituencies, increasing detection, and building capacities. Drawing on the model of the Fragile X movement, groups like the International 22q11.2 Foundation have developed the knowledge and resources—including specialist clinics, local support groups, diverse research programs, a growing medical literature, and online resources for parent-advocates—that can transform patients’ lives. They have also sought to absorb the 22q11.2 duplication syndrome population into their ranks and add 22q11.2DS to newborn screening programs. With new historical conditions of possibility, the help of a new generation of genetic counselors, and established repertoires of social mobilization to draw upon, advocates have turned 22q11.2DS into a powerful category of human difference in certain fields and locales. Studying the 22q11.2DS network or "apparatus" therefore helps us understand what it takes to make mutations truly matter to patients and families.Less
In order to illustrate how advocates are mobilizing mutations today, this chapter delves into the patient advocacy network organized around 22q11.2 Deletion Syndrome. Activists still face a range of deep-seated obstacles—especially in fields that are resistant to genomic designation—leaving conditions like 22q11.2DS underrecognized and many patients undiagnosed. This chapter shows how 22q11.2DS advocates have made huge strides courting allies and expert-activists, advancing awareness among key constituencies, increasing detection, and building capacities. Drawing on the model of the Fragile X movement, groups like the International 22q11.2 Foundation have developed the knowledge and resources—including specialist clinics, local support groups, diverse research programs, a growing medical literature, and online resources for parent-advocates—that can transform patients’ lives. They have also sought to absorb the 22q11.2 duplication syndrome population into their ranks and add 22q11.2DS to newborn screening programs. With new historical conditions of possibility, the help of a new generation of genetic counselors, and established repertoires of social mobilization to draw upon, advocates have turned 22q11.2DS into a powerful category of human difference in certain fields and locales. Studying the 22q11.2DS network or "apparatus" therefore helps us understand what it takes to make mutations truly matter to patients and families.
James Tabery
- Published in print:
- 2014
- Published Online:
- January 2015
- ISBN:
- 9780262027373
- eISBN:
- 9780262324144
- Item type:
- chapter
- Publisher:
- The MIT Press
- DOI:
- 10.7551/mitpress/9780262027373.003.0007
- Subject:
- History, History of Science, Technology, and Medicine
In 2002, scientists were reported to have discovered a “genetic predisposition to violence” in the form of the MAOA gene (monoamine oxidase A). Bioethicists reflecting on the discovery recommended ...
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In 2002, scientists were reported to have discovered a “genetic predisposition to violence” in the form of the MAOA gene (monoamine oxidase A). Bioethicists reflecting on the discovery recommended that parents should use preimplantation genetic diagnosis to genetically test their embryos for the dangerous gene and encouraged states to screen newborns for those children who harboured the criminal tendency. This chapter shows that scientists never in fact discovered a genetic predisposition to violence, for discussions of the 2002 study that conceive of the study in that way fundamentally mischaracterize the results about MAOA. This mischaracterization has corrupted the bioethical discussions, leading to dangerous confusion about who does and does not bear a “predisposition to violence”.Less
In 2002, scientists were reported to have discovered a “genetic predisposition to violence” in the form of the MAOA gene (monoamine oxidase A). Bioethicists reflecting on the discovery recommended that parents should use preimplantation genetic diagnosis to genetically test their embryos for the dangerous gene and encouraged states to screen newborns for those children who harboured the criminal tendency. This chapter shows that scientists never in fact discovered a genetic predisposition to violence, for discussions of the 2002 study that conceive of the study in that way fundamentally mischaracterize the results about MAOA. This mischaracterization has corrupted the bioethical discussions, leading to dangerous confusion about who does and does not bear a “predisposition to violence”.
Stefan Timmermans and Mara Buchbinder
- Published in print:
- 2012
- Published Online:
- September 2013
- ISBN:
- 9780226924977
- eISBN:
- 9780226924991
- Item type:
- chapter
- Publisher:
- University of Chicago Press
- DOI:
- 10.7208/chicago/9780226924991.003.0005
- Subject:
- Sociology, Health, Illness, and Medicine
This chapter focuses on the medical consultation as a site where uncertainties regarding children’s ambiguous health status were worked out collectively as the child grew. One of the most pressing ...
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This chapter focuses on the medical consultation as a site where uncertainties regarding children’s ambiguous health status were worked out collectively as the child grew. One of the most pressing questions facing parents of newborn screening patients was: is my baby normal? While these babies might have appeared to look like any other baby, uncertainties about their health and development could remain for many months, even years. As is shown here, it was within the confines of mundane clinical encounters and routinized developmental assessments that geneticists attempted to scale back the initial anxieties prompted by the shock of a positive newborn screen and to provide reassurance about a child’s uncertain future. Despite the high-tech infrastructure of expanded newborn screening and genetic testing protocols, once the possibility of further genetic testing was ruled out, newborn screening follow-up visits adhered to a familiar format.Less
This chapter focuses on the medical consultation as a site where uncertainties regarding children’s ambiguous health status were worked out collectively as the child grew. One of the most pressing questions facing parents of newborn screening patients was: is my baby normal? While these babies might have appeared to look like any other baby, uncertainties about their health and development could remain for many months, even years. As is shown here, it was within the confines of mundane clinical encounters and routinized developmental assessments that geneticists attempted to scale back the initial anxieties prompted by the shock of a positive newborn screen and to provide reassurance about a child’s uncertain future. Despite the high-tech infrastructure of expanded newborn screening and genetic testing protocols, once the possibility of further genetic testing was ruled out, newborn screening follow-up visits adhered to a familiar format.
Laura Mauldin
- Published in print:
- 2016
- Published Online:
- January 2017
- ISBN:
- 9780816697243
- eISBN:
- 9781452954325
- Item type:
- chapter
- Publisher:
- University of Minnesota Press
- DOI:
- 10.5749/minnesota/9780816697243.003.0002
- Subject:
- Sociology, Health, Illness, and Medicine
Describes the long-term process of implantation and names the five stages: identification, intervention, candidacy, surgery and long-term follow up. Defines the ‘anticipatory structures’ that ...
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Describes the long-term process of implantation and names the five stages: identification, intervention, candidacy, surgery and long-term follow up. Defines the ‘anticipatory structures’ that surround parents as they move through the implantation stages, but focuses on the microinteractions and institutional processes involved in newborn screening and identification of deafnessLess
Describes the long-term process of implantation and names the five stages: identification, intervention, candidacy, surgery and long-term follow up. Defines the ‘anticipatory structures’ that surround parents as they move through the implantation stages, but focuses on the microinteractions and institutional processes involved in newborn screening and identification of deafness
Soraya de Chadarevian
- Published in print:
- 2020
- Published Online:
- January 2021
- ISBN:
- 9780226685083
- eISBN:
- 9780226685250
- Item type:
- chapter
- Publisher:
- University of Chicago Press
- DOI:
- 10.7208/chicago/9780226685250.003.0004
- Subject:
- History, History of Science, Technology, and Medicine
Many of the early observations on unusual chromosome pictures concerned the number of sex chromosomes. Chapter 3 argues that a combination of technical, bio-medical, and cultural reasons were ...
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Many of the early observations on unusual chromosome pictures concerned the number of sex chromosomes. Chapter 3 argues that a combination of technical, bio-medical, and cultural reasons were responsible for the first string of observations of sex chromosome anomalies and for the continuing research on these cases. It then focuses on two contested areas: firstly, the presumed connection between the XYY karyotype and aggression and violence and its potential impact on criminal justice cases and, secondly, the use of karyotyping for gender verification practices in the competitive sports context. Especially the first case on the “criminal chromosomes” has become notorious in the history of human genetics and is often cited as an example of biased science. The chapter aims to explain the length and vehemence of the debate as well as its role in an emerging ethical discussion on clinical research and prenatal and newborn genetic screening and prospective studies in particular. Chromosome testing for female athletes was first introduced at the Olympic Games in Mexico City in 1968 and became immediately controversial. Both cases serve to gauge the weight laid on biology and human heredity to explain social behavior and inform social policies in the long 1960s.Less
Many of the early observations on unusual chromosome pictures concerned the number of sex chromosomes. Chapter 3 argues that a combination of technical, bio-medical, and cultural reasons were responsible for the first string of observations of sex chromosome anomalies and for the continuing research on these cases. It then focuses on two contested areas: firstly, the presumed connection between the XYY karyotype and aggression and violence and its potential impact on criminal justice cases and, secondly, the use of karyotyping for gender verification practices in the competitive sports context. Especially the first case on the “criminal chromosomes” has become notorious in the history of human genetics and is often cited as an example of biased science. The chapter aims to explain the length and vehemence of the debate as well as its role in an emerging ethical discussion on clinical research and prenatal and newborn genetic screening and prospective studies in particular. Chromosome testing for female athletes was first introduced at the Olympic Games in Mexico City in 1968 and became immediately controversial. Both cases serve to gauge the weight laid on biology and human heredity to explain social behavior and inform social policies in the long 1960s.