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Assessing the evidence for clinical utility in newborn screening

Scott D. Grosse

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

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 ... More


Economic evaluations of newborn screening

Scott D. Grosse

in Economic Evaluation in Child Health

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 ... More


Lessons learned from newborn screening for phenylketonuria

Kenneth A. Pass

in Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease

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 ... More


Newborn screening for sickle cell disease: public health impact and evaluation

Richard S. Olney

in Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease

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 ... More


The Expansion of Newborn Screening

Stefan Timmermans and Mara Buchbinder

in Saving Babies?: The Consequences of Newborn Genetic Screening

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 ... More


Newborn screening for cystic fibrosis: A paradigm for public health genetics policy development

Philip M. Farrell, Michael R. Kosorok, Michael J. Rock, Anita Laxova, Lan Zeng, Gary Hoffman, Ronald H. Laessig, and Mark L. Splaingard

in Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease

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 ... More


Newborn screening quality assurance

W. Harry Hannon, L. Omar Henderson, and Carol J. Bell

in Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease

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 ... More


The Consequences of Newborn Screening

Stefan Timmermans and Mara Buchbinder

in Saving Babies?: The Consequences of Newborn Genetic Screening

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 ... More


Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease

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 ... More


Changing Parameters in Deafness and Deaf Education: Greater Opportunity but Continuing Diversity

Greg Leigh

in Deaf Cognition: Foundations and Outcomes

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 ... More


Implementing screening

Angela E. Raffle and J. A. Muir Gray

in Screening: Evidence and practice

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 ... More


Retention and use of human biological samples: the Guthrie card example

Deirdre Madden

in Ethical and Legal Debates In Irish Healthcare: Confronting complexities

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 ... More


Patients-in-Waiting

Stefan Timmermans and Mara Buchbinder

in Saving Babies?: The Consequences of Newborn Genetic Screening

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 ... More


Saving Babies?: The Consequences of Newborn Genetic Screening

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 ... More


Expanded Newborn Screening: Contemporary Challenges to the Parens Patriae Doctrine and the Use of Public Resources

Jeffrey R. Botkin, Rebecca A. Anderson, and Erin Rothwell

in Medicine and Social Justice: Essays on the Distribution of Health Care

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 ... More


Disarming the “Genetic Predisposition to Violence”: The Dangers of Mischaracterizing Interaction

James Tabery

in Beyond Versus: The Struggle to Understand the Interaction of Nature and Nurture

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 ... More


Is My Baby Normal?

Stefan Timmermans and Mara Buchbinder

in Saving Babies?: The Consequences of Newborn Genetic Screening

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 ... More


The Sixth Month: Reflexes and Newborn Screening

Vanessa LoBue

in 9 Months In, 9 Months Out: A Scientist's Tale of Pregnancy and Parenthood

Published in print:
2019
Published Online:
July 2019
ISBN:
9780190863388
eISBN:
9780190944872
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780190863388.003.0007
Subject:
Psychology, Developmental Psychology

This chapter describes the development of the fetus in the sixth month of pregnancy. As the third and final trimester approaches, the author is distinctly aware of her pregnancy with her growing size ... More


A Diagnosis of Deafness: How Mothers Experience Newborn Hearing Screening

Laura Mauldin

in Made to Hear: Cochlear Implants and Raising Deaf Children

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 ... More


Of Dogs, Daycare, and Discipline: A “Genetic Guide to Parenting”?

James Tabery

in Beyond Versus: The Struggle to Understand the Interaction of Nature and Nurture

Published in print:
2014
Published Online:
January 2015
ISBN:
9780262027373
eISBN:
9780262324144
Item type:
chapter
Publisher:
The MIT Press
DOI:
10.7551/mitpress/9780262027373.003.0008
Subject:
History, History of Science, Technology, and Medicine

Depending on which gene a child has, being sent to daycare can either increase or decrease a child’s chances of developing allergies. Likewise, children with one form of a gene respond better to an ... More


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