About the Glossary
PowerPoint®
Presentations
Other Internet Resources
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Other Internet Resources
Resources for Health Professionals
Genes/Diseases Databases
- Online Mendelian Inheritance in Man
Catalog of human genetic disorders and human genes containing
medical and scientific information and references
- Human Gene Mutation Database
Comprises information on known gene mutations responsible for human genetic disease; registration required
- Human Genome Variation Society
Promotes collection, documentation, and free distribution of genomic variation information and associated clinical variations; maintains comprehensive lists of mutations databases
- MutaDATABASE
Database that provides standardized information on human disease genes and variants and on clinical features of patients with monogenic disease
Dysmorphology Databases
- London Medical Databases
Currently consists of a dysmorphology, a neurogenetics, and an
ophthalmic genetics database for clinicians
- POSSUM
Database that assists clinicians in diagnosing dysmorphic
syndromes in patients
Note: The above Web sites link to information about
the databases mentioned. The databases are not freely available on the
Internet.
- SimulConsult
An interactive diagnostic decision support software tool that provides differential diagnoses based on individual patient findings; registration or institutional access required
NIH Health/Disease
Information
- National Human Genome Research Institute
Leads the Human Genome Project, conducts research, and supports
genomic science worldwide; based at the NIH
- National Center for Biotechnology Information
A public information resource for molecular biology; sponsors
research in computational biology; comprises biomedical
databases and software tools for analyzing genome data; based
at the National Library of Medicine, NIH
- National Cancer Institute, NIH
Information on cancer, clinical trials, cancer statistics, and
research programs
- National Institute of Neurological Disorders and Stroke,
NIH
Information on disorders of the brain and nervous system
- Office of Biorepositories and Biospecimen Research,
NCI
The NCI's initiative to address the limited availability of
biospecimens. Biospecimens contain a vast array of information
that is essential for understanding human health and disease,
identifying genes and their function, and understanding the
role that genetics plays in the origin and progression of
disease.
- ClinicalTrials.gov
Provides current information about clinical research studies
for the public; based at the National Library of Medicine,
NIH
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Resources for Health Professionals / Consumers
Note: Consumers may also search the GeneTests Laboratory Directory for a specific disease and select the button if
available.
- Rare Clinical Diseases Research Network
A network of 19 consortia working to improve the availability of rare disease information, treatment, clinical studies, and general awareness for patients and the medical community and to assist in connecting patients with advocacy groups, expert physicians, and clinical research opportunities
Newborn Screening and Regional Genetics Resources
- National Newborn
Screening & Genetics Resource Center
Information on newborn screening and genetics for health
professionals, the public health community, consumers, and
government officials
- Regional Genetics & Newborn Screening Collaboratives
US map with links to the Web sites of the collaboratives.
Direct-to-Consumer
Genetic Testing
- FTC Alert
Facts for Consumers: At-Home Genetic Tests. A healthy dose of
skepticism may be the best prescription.
- NSGC Position Statement on Direct-to-Consumer Testing
Direct to Consumer (DTC) position statement from the
professional organization of genetic counselors; focuses on
issues related to the purpose, safety, and validity of DTC
genetic tests
- ASHG Statement on Direct-to-Consumer Genetic Testing in
the US
Policy statement addressing genetic tests that make
health-related claims or that directly affect health care
decision making, that can be ordered directly by a consumer and
whose results are reported DTC without an independent health
care provider serving as an intermediary (pdf)
- ACMG Statement on Direct-to-Consumer Genetic Testing
Voluntary guideline designed primarily as an educational
resource to help clinicians and genetic counselors provide
quality medical services and advise patients. Includes five
minimum prerequisites for a genetic testing protocol.
(pdf)
- ACCP Position Statement on Direct-to-Consumer/Patient Advertising of Genetic Testing
This statement by the American College of Clinical Pharmacology focuses on the advertising of genetic testing services directly to the consumer/patient. To mitigate psychological, social, and medical risks, realistic expectations of such tests should be communicated.
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Resources for Consumers
Note: Consumers may also search GeneTests for a specific disease and select the button if
available.
NIH Health/Disease
Information
- Genetics Home Reference
Consumer information about genetic conditions and the genes
responsible for those conditions produced by National Library
of Medicine, NIH
- MedlinePlus
Includes an illustrated medical encyclopedia, interactive
patient tutorials, extensive information about drugs, resources
in Spanish, and latest health news; a service of the US
National Library of Medicine and the NIH
- National Institutes of Health - Health Information
Consumer health resources organized alphabetically by topic;
includes a section on Genetics/Birth Defects
- Genetics and Rare Diseases Information Center
Experienced specialists available to answer
questions (in English or Spanish)
from consumers, health professionals, and biomedical researchers; established
by the National Human Genome Research Institute (NHGRI) and the
Office of Rare Diseases (ORD), NIH
Disease-Specific Information
- Genetic Alliance
Directory of genetic support groups and assistance for
consumers and professionals in identifying support groups,
self-help groups, community organizations, information
resources, clinical research studies and genetics centers
- Genetics and Rare Conditions Site
Links to lay advocacy groups, support groups, and information
on genetic conditions and birth defects for professionals,
educators and consumers; developed by the University of
Kansas
- NORD
National Organization for Rare Disorders: three searchable
databases (Index of Rare Diseases, Organizational Database, and
Orphan Drug Database)
- Family Village
Information, resources, and communication opportunities for
individuals/families with cognitive and other disabilities for
consumers and health professionals
- March of Dimes
Volunteer organization with the focus to improve the health of
babies by preventing birth defects and infant mortality
- New York Online Access to Health
Provides access to current, full-text consumer health
information in English and Spanish
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Chromosomal Disorders
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Additional Laboratory Directories
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Association for Molecular Pathology: Test directory for
infectious disease and solid tumors
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Directory of the Czech DNA Laboratories: A directory of
laboratories in the Czech Republic that offer molecular
testing for genetic disorders
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European Directory of DNA Diagnostic Laboratories
(EDDNAL)
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Orphanet: Information on rare diseases, genetics clinics,
laboratories, research, and support groups; produced by a
European consortium
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Test list for biochemical genetics
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GeneTests, GeneReview, and GeneReviews are trademarks of the University of Washington, Seattle. Revised 4-18-12.
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