- Title Pages
- Preface
- Acknowledgments
- Contributors
- 1 Human genome epidemiology: the road map revisited
- 2 Principles of analysis of germline genetics
- 3 The public health genomics enterprise
- 4 Navigating the evolving knowledge of human genetic variation in health and disease
- 5 The global emergence of epidemiological biobanks: opportunities and challenges
- 6 Case-control and cohort studies in the age of genome-wide associations
- 7 The emergence of networks in human genome epidemiology: challenges and opportunities
- 8 Design and analysis issues in genome-wide association studies
- 9 The challenge of assessing complex gene– environment and gene–gene interactions
- 10 STrengthening the REporting of Genetic Association studies (STREGA)—an extension of the STROBE statement
- 11 Integration of the evidence on gene–disease associations: methods of HuGE reviews
- 12 Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases
- 13 Colorectal cancer
- 14 Childhood leukemias
- 15 Bladder cancer
- 16 Type 2 diabetes
- 17 Osteoporosis
- 18 Preterm birth
- 19 Coronary heart disease
- 20 Schizophrenia
- 21 Mendelian randomization: the contribution of genetic epidemiology to elucidating environmentally modifiable causes of disease
- 22 Evaluation of predictive genetic tests for common diseases: bridging epidemiological, clinical, and public health measures
- 23 The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group
- 24 Rapid, evidence-based reviews of genetic tests
- 25 Role of social and behavioral research in assessing the utility of genetic information
- 26 Assessing the evidence for clinical utility in newborn screening
- 27 The role of epidemiology in assessing the potential clinical impact of pharmacogenomics
- 28 The human epigenome and cancer
- 29 The use of family history in public health practice: the epidemiologic view
- 30 Cytochrome P450 testing in the treatment of depression
- 31 A Rapid-ACCE review of <i>CYP2C9</i> and <i>VKORC1</i> allele testing to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding
- 32 Hereditary hemochromatosis: population screening for gene mutations
- Index
Assessing the evidence for clinical utility in newborn screening
Assessing the evidence for clinical utility in newborn screening
- Chapter:
- (p.517) 26 Assessing the evidence for clinical utility in newborn screening
- Source:
- Human Genome Epidemiology, 2nd Edition
- Author(s):
Scott D. Grosse
- Publisher:
- Oxford University Press
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.
Keywords: newborn screening, cystic fibrosis, genetic disorders
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- Title Pages
- Preface
- Acknowledgments
- Contributors
- 1 Human genome epidemiology: the road map revisited
- 2 Principles of analysis of germline genetics
- 3 The public health genomics enterprise
- 4 Navigating the evolving knowledge of human genetic variation in health and disease
- 5 The global emergence of epidemiological biobanks: opportunities and challenges
- 6 Case-control and cohort studies in the age of genome-wide associations
- 7 The emergence of networks in human genome epidemiology: challenges and opportunities
- 8 Design and analysis issues in genome-wide association studies
- 9 The challenge of assessing complex gene– environment and gene–gene interactions
- 10 STrengthening the REporting of Genetic Association studies (STREGA)—an extension of the STROBE statement
- 11 Integration of the evidence on gene–disease associations: methods of HuGE reviews
- 12 Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases
- 13 Colorectal cancer
- 14 Childhood leukemias
- 15 Bladder cancer
- 16 Type 2 diabetes
- 17 Osteoporosis
- 18 Preterm birth
- 19 Coronary heart disease
- 20 Schizophrenia
- 21 Mendelian randomization: the contribution of genetic epidemiology to elucidating environmentally modifiable causes of disease
- 22 Evaluation of predictive genetic tests for common diseases: bridging epidemiological, clinical, and public health measures
- 23 The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group
- 24 Rapid, evidence-based reviews of genetic tests
- 25 Role of social and behavioral research in assessing the utility of genetic information
- 26 Assessing the evidence for clinical utility in newborn screening
- 27 The role of epidemiology in assessing the potential clinical impact of pharmacogenomics
- 28 The human epigenome and cancer
- 29 The use of family history in public health practice: the epidemiologic view
- 30 Cytochrome P450 testing in the treatment of depression
- 31 A Rapid-ACCE review of <i>CYP2C9</i> and <i>VKORC1</i> allele testing to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding
- 32 Hereditary hemochromatosis: population screening for gene mutations
- Index
