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Information on Resources
ACTion Sheets

Lists conditions as screened by markers (analytes). Brief descriptions, as well as, recommended short term follow up by health professionals and communicating with the family of a screened positive infant. Testing algorithms are presented that describe the basic steps in reaching a final diagnosis. Moderate in scientific and technical content. This resource is useful for physicians, laboratorians, and lay persons.


American Academy of Pediatrics

Professional organization comprised of pediatricians. Included are policy statements and guidelines, reference articles by affiliated academic journals. Moderate in scientific and technical content. This resource is useful for physicians and lay persons.


American College of Medical Genetics

Professional organization comprised of the medical genetics community. Included are resources for medical genetics professionals, including policy statements and guidelines, and laboratory standards and guidelines. Highly technical in content. This resource is useful for researchers, laboratorians, and clinicans with knowledge of medical genetics.


American College of Obstetricians and Gynecologists

Professional organization comprised of obstetricians and gynecologists. Included are educational materials (including pamphlets). Mildly scientific and technical content. This resource is useful for physicians and lay persons.


American Society of Human Genetics

Professional organization comprised of professionals working in the human genetics field. Content included are educational materials, policy statements and guidelines. Moderately scientific and technical content. This resource is useful for physicians, researchers, clincians and lay people with an understanding of human genetics


Genes and Disease

An online anthology of over 80 genetic disorders organized according to the body system affected by the condition. Moderate scientific and technical content. This resource is useful for physicians and lay persons.


GeneTests

Supplies comprehensive summaries of genetic conditions, including availability and types of genetic testing offered, as well as, providing links for further information; searchable by disease name or gene. Highly technical in content. This resource is useful for those with a thorough understanding of genetic disorders.


Genetics Home Reference

Provides background information on genetic conditions, including basic descriptions on genetic mutations and inheritance, as well as, providing links for further information including patient support and education. Low in technical and scientific content. This resource is useful for those little to no experience or understanding of genetic diseases.


National Human Genome Research Institute

One of the 27 institutes that comprise the U.S. National Institues of Health. This website provides information related to the completion of the human genome sequance and the biomedical research has resulted from the completion of the sequance. Moderate in technical and scientific content. This resource is useful to those interested in the scientific, ethical, legal, and social implications of genomic biomedical research.


National Newborn Screening and Genetics Resource Center

Provides information and resources related to newborn screening and genetics. Moderate in technical and scientific content. This resource is useful to physicians, laboratorians, researchers, and lay persons.


National Organization for Rare Disorders

A patient advocacy group that provides information about diseases, patient organizations, research grants and fellowships, policy, advocacy, and medical assistance. Mild in technical and scientific content. This resource is useful to lay persons, physicians, clincians, researchers.


Online Mendelian Inheritance in Man

Database of human genes and genetic disorders. Highly technical scientific content. This resource is useful for those with an advanced knowledge of genetics.


OrphaNet

Database that provides information on rare diseases and orphaned drugs; also provides a directory of European genetic services. Moderate in technical and scientific content. This resource is useful to those with a thorough understanding of rare diseases.


This page last reviewed: 11/29/2007
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