Human Genetics and Newborn Screening
Serving the family from birth to medical home, newborn screening: a blueprint for the future, a call for a national agenda on state newborn screening programs
American Academy of Pediatrics Newborn Screening Task Force. Pediatrics. 2000;106:389-427.
This report outlines the need for a standardized set of national guidelines for newborn screening and is the most comprehensive review to date of newborn screening issues in the United States. The article addresses all of the important concepts for developing newborn screening policy including the history of screening, variations in state policies, public health limitations, adding new tests, patient and family rights, use of residual blood samples, screening cost, and insurance programs, as well as many other issues not considered in this activity.
A comprehensive resource for information concerning newborn screening, as well as other areas of genetics, in western European countries. Site contains public policy statements, links and resources for genetic services in Europe.
Offers peer-reviewed disease profiles and reviews on genetic testing. Written by clinicians, molecular pathologists and geneticists. Offers extensive links to genomic databases, disease organizations, PubMed citations and genetic testing policy and guidelines.
A free online genetic testing resource containing a searchable worldwide laboratory directory organized by genetic disorder. Includes contact, website and methodology information. Contains educational materials concerning the use of genetic testing services.
Outlines policy on newborn screening in Australia and New Zealand including information on screening for specific disorders and retention, storage and use of sample cards from screening programs. Includes links to special interest groups in Australia and New Zealand.
Klausner R., Collins F. National Cancer Institute. 1995.
An online lecture or printable booklet provided by the National Institutes of Health and the National Cancer Institute explaining how genetic testing works and the possible consequences and concerns.
Mountain States Genetics Network Newborn Screening Committee. Colorado: Mountain States Regional Genetic Services Network; 1999.
An online reference designed to assist medical practitioners in the Mountain West in understanding the various components of newborn screening. Overviews screening procedures, conditions and patient and family rights.
A cooperative agreement between the Maternal and Child Health Bureau (MCHB), Genetic Services Branch and the University of Texas Health Science Center at San Antonio (UTHSCSA), Department of Pediatrics. Provides a list of up-to-date publications, links to U.S. state and national newborn screening information and a what's new section. Includes an updated list of genetic disorders tested in each state in the United States with definitions for these medical conditions and disorders.
Contains up-to-date news and information concerning developments in newborn screening in the U.S. states and around the world. A drop-down menu allows navigation for information about particular states and some countries. Has some limited information about genetic disorders.