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.
  
  
• Online Mendelian Inheritance in Man
  Catalog of human genetic disorders and human genes containing medical and scientific information and references
  
  
• ClinicalTrials.gov
  Provides current information about clinical research studies for the public; based at the National Library of Medicine, NIH

Other Government Sites

• CDC Office of Genomics and Disease Prevention
  Information about human genetic discoveries and how they can be used to improve health and prevent disease
  
  
• DisabilityInfo.gov
  Comprehensive Federal Web site of disability-related government resources
  
  
• Human Genome Project Information
  Basics about the Human Genome Project; frequently asked questions and other information
  

Dysmorphology Databases

Note: The Web sites below link to information about these databases. The databases are not freely available on the Internet.

• POSSUM
  Database that assists clinicians in diagnosing dysmorphic syndromes in patients
  
  
• London Medical Databases
  Currently consists of a dysmorphology, a neurogenetics, and an ophthalmic genetics database for clinicians

Note: Consumers may also search GeneTests for a specific disease and select the button if available.

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.

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.

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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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  National Laboratory Network: Academic and commercial laboratories partnering to develop clinical tests for rare genetic disorders
  

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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