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
I Genetics and Public Health: an Overview
1 Genetics and public health: A framework for the integration of human genetics into public health practice
2 Genetics and public health: historical perspectives and current challenges and opportunities
3 The human genome project: evolving status and emerging opportunities for disease prevention
4 Models of public health genetic policy development
5 The multidisciplinary nature of public health genetics in research and education
II Public Health Assessment
6 Epidemiology, molecular biology, and public health
7 Surveillance for birth defects and genetic diseases
8 Surveillance for hemophilia and inherited hematologic disorders
9 Public health assessment of genetic predisposition to cancer
10 Public health assessment of genetic susceptibility to infectious diseases: malaria, tuberculosis, and HIV
11 Public health assessment of genetic information in the occupational setting
III Evaluation of Genetic Testing
12 Medical and public health strategies for ensuring the quality of genetic testing
13 Newborn screening quality assurance
IV Developing, Implementing, and Evaluating Population Interventions
14 Public health needs assessment for state-based genetic services delivery
15 Access to genetic services in the United States: A challenge to genetics in public health
16 Community genetics in the Netherlands
17 Delivery of genetic services in developing countries
18 Genetics and prevention effectiveness
19 Impact of genetic information and genetic counseling on public health
20 Lessons learned from newborn screening for phenylketonuria
21 Newborn screening for cystic fibrosis: A paradigm for public health genetics policy development
22 Newborn screening for sickle cell disease: public health impact and evaluation
23 Public health strategies to prevent the complications of hemochromatosis
24 Applying genetic strategies to prevent atherosclerosis
V Genetics and Public Health: Ethical, Legal, and Social Issues
25 Genetics, public health, and the law
26 Genetics and public health: informed consent beyond the clinical encounter
27 Public health surveillance of genetic information: Ethical and legal responses to social risk
VI Communication, Education, and Information Dissemination
28 Principles and practices of communication processes for genetics in public health
29 Training in public health genetics
30 Consumer perspectives on genetic testing: lessons learned
31 Using the internet to disseminate genetics information for public health
Newborn screening for sickle cell disease: public health impact and evaluation
(p.431) 22 Newborn screening for sickle cell disease: public health impact and evaluation
Genetics and Public Health in the 21st Century
Richard S. Olney
DOI:10.1093/acprof:oso/9780195128307.003.0022
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.
Keywords: newborn screening, genetic screening, public health, newborn hemoglobinopathy screening, cost-effectiveness, hemoglobinopathies