CLINICAL GENETICS: Useful Sites

American Academy of Family Physicians (AAFP)
The AAFP has endorsed a Recommended Curriculum Guidelines for Family Practice Residents.

American Academy of Pediatrics, Section on Genetics and Birth Defects
E stablished in 1990, this section meets for the purpose of discussing ideas, developing programs and projects which will improve the care of infants, children and adolescents with genetic disorders or birth defects, and educating primary care pediatricians about the role of genetics in their practices.

American College of Medical Genetics (ACMG)
The ACMG is an organization whose membership includes biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors, and other health care professionals committed to the practice of medical genetics.

American Society of Human Genetics (ASHG)
The American Society of Human Genetics (ASHG), founded in 1948, is the primary professional membership organization for human geneticists in North America.  The ASHG brings together investigators in  human genetics to share research findings, primarily through the Society's annual meeting and its official monthly publication, The American Journal of Human Genetics.

CDC Office of Genomics and Disease Prevention
The site provides information related to human genome research and how discoveries can be used to prevent disease. Access to the collaborative HuGENet (The Human Genetics Epidemiology Network).

Communities of Color and Genetics Policy Project
The Project's focus is to develop a process for engaging communities of color of diverse socio-economic levels in dialogues relating to genome research and its resulting technology.  It's outcome will be recommendations for laws, professional standards and institutional policies regarding the use and application of genome research and technology.

Council for Responsible Genetics (CRG)
The CRG, founded in 1983, is a national nonprofit organization of scientists, environmentalists, public health advocates, physicians, lawyers and other concerned citizens. CRG encourages informed public debate about the social, ethical, and environmental implications of new genetic technologies, and advocates for socially responsible use of these technologies. Publishers of the magazine, GeneWatch.

Department of Energy (DOE) Human Genome Project
The Human Genome Project, initiated by the DOE in 1986 to map and determine the complete DNA sequence of the human genome.  Includes a vast amount of information, including the Primer on Molecular Genetics, the Gene Gateway, a Genome Glossary, and much more.

GDB Human Genome Database
The Official World-Wide Database for the Annotation of the Human Genome
Hosted by RTI International, North Carolina USA.

GeneCards
Gene Cards is a database of concise information on gene structure, function and involvement in disease processes.

GeneTests-Gene Clinics
Publicly funded genetic information site. Includes the publication Gene Reviews (previously Gene Clinics), worldwide testing laboratory and clinic directories, and a teaching tool, "The Primary Care Physician: The Primary Source of Genetic Testing Information", and more.

Genes and Disease
Genes and Disease is an online text containing information about genetic diseases associated with specific chromosomes, a brief description of these disease, links to one or two relevant PubMed citations, and link outs to national associations. Also available fully searchable on the PubMed Bookshelf.

HuGENet Human Genome Epidemiology Network
A global collaboration of individuals and organizations committed to the development and dissemination of population-based epidemiologic information on the human genome.  The Web site offers access to information on population-specific prevalence data on human gene variants, epidemiologic data on the association between genetic variation and diseases in different populations; quantitative population-based data on gene-environment interaction; and population impact on the use of genetic tests and services in improving health and preventing disease.

Joint Genome Institute and Gene Sequencing Facility
Formed in 1997, the JGI is a virtual laboratory whose work will be conducted in a number of labs allowing more efficient and effective use of expertise and resources across labs. It takes advantage of the complementing strengths and expertise in genome mapping, sequencing, genome technology development and information sciences developed at DOE genome centers at Lawrence Berkeley National Laboratory (LBNL), Lawrence Livermore National laboratory (LLNL), and Los Alamos National Laboratory (LANL) and those at other labs and universities.

Kansas University Medical Center, Information for Genetics Professionals
Provides information for genetic professionals (counselors, clinical and medical geneticists) with regularly updated information on clinical, research, and educational resources.

National Cancer Institute
Information on genetics and cancer.

National Center for Biotechnology Information (NCBI)
NCBI was established in 1988 as a national resource for molecular biology information.  Among its many important services, the Center provides public databases and software tools for analyzing genome data. NCBI also works with the NLM to produce PubMed.

National Coalition for Health Professional Education in Genetics
NCHPEG is a national effort to promote health professional education and access to information about advances in human genetics from a diverse group of health professional individuals and organizations.

National Human Genome Research Institute (NHGRI)
NHGRI was eatablished in 1989 to head the Human Genome Project for the National Institutes of Health.

National Society of Genetic Counselors, Inc. (NSGC)
The Society's mission is to promote the genetic counseling profession as a recognized and integral part of health care delivery, education, research and public policy. Position statements are available from their homepage.

The National Taskforce for Newborn Screening and Genetic Resource Center (NNSGRC)
The National Taskforce will replace the Council of Regional Networks for Genetic Services to bring together network representatives to encourage and facilitate communication and planning for genetic services

New York State Department of Health
NYS DOH has several genetic resources available including:

Genetic Susceptibility to Breast and Ovarian Cancer: Assessment, Counseling and Testing Guidelines
Evaluation of the Newborn with Single or Multiple Congenital Anomalies: A Clinical Guideline
New York State Specialists in Cancer Genetics Risk Assessment and Genetic Counseling
Genetic Testing Laboratories Approved to Provide DNA-Based Analysis for Genetic/Cancer Predisposition Testing for Specimens Originating in New York State.

Office of Rare Diseases (ORD)
ORD provides information on more than 6000 rare diseases, including current research, publications from scientific and medical journals, completed research, ongoing studies, and patient support groups.

Online Mendelian Inheritance in Man (OMIM)
OMIM is a database which catalogs human genes and genomic disorders.  The database contains textual information, pictures, and reference information.  It also provides links to NCBI's MEDLINE and sequence databases.

OrphaNet
OrphaNet is a database providing access to information about rare diseases and orphan drugs.

Promoting Safe and Effective Genetic Testing in the United States
Final Report of  the Task Force on Genetic Testing.  The Task Force was created by the National Institutes of Health-Department of Energy Working Group on Ethical, Legal, and Social Implications of Human Genome Research.

Secretary's Advisory Committee on Genetic Testing (SACGT)
The SACGT will advise the government about all aspects of the development and use of genetic tests, including the complex medical, ethical, legal, and social issues raised by genetic testing.

Sickle Cell Information Center
The mission of this site is to provide sickle cell professional and patient education, news, research updates and world wide sickle cell resource.

 

Updated 9/26/06 M.Ascher