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Clinical Genetics Databases

GeneTests

Federally-funded, free database of clinical genetics information, including Gene Reviews, directories of laboratories and clinics, and some educational material for the public about the genetic basis of diseases. Primarily aimed at the clinician. This resource has also been known as Gene Clinics.

Online Mendelian Inheritance in Man

This proprietary database of human genes and genetic disorders is hosted online by the National Institutes of Health / National Center for Biotechnology Information. It is the online version of the Mendelian Inheritance in Man resource initially created by Dr. Victor McKusick at Johns Hopkins University. As an NCBI Entrez database, OMIM contains crosslinks to and from articles in PubMed MEDLINE and sequence records in other Entrez databases, including GenBank.

CGAP - Cancer Genome Anatomy Project

The goal of the NCI's Cancer Genome Anatomy Project is to determine the gene expression profiles of normal, precancer, and cancer cells, leading eventually to improved detection, diagnosis, and treatment for the patient.

Orphanet

This is a database of rare diseases and orphan drugs, sponsored by a variety of French and European Union health agencies. Information for patients, clinicians ("professionals"), support groups, corporations ("industrials"), and the general public is available in French, English, German, Italian, Spanish, and Portuguese. This database includes genetic diseases as well as rare autoimmune and infectious diseases.

Nucleic Acids Research Molecular Biology Database Collection

Every January the journal Nucleic Acids Research collates, indexes, and summarizes new or revised databases available for research in molecular biology, genetics, genomics, and proteomics. The total list of databases is free and online in the MBDC.

Websites for Clinicians

Office of Genomics and Disease Prevention: Welcome to HuGENet

Human Genome Epidemiology Network, or HuGENetT" is a global collaboration of individuals and organizations committed to the assessment of the impact of human genome variation on population health and how genetic information can be used to improve health and prevent disease.

Atlas Chromosomes in Cancer

This site is a free, peer-reviewed journal/atlas/portal to information on the Internet about genes, cytogenetics, and the clinical genetics of cancer and related diseases. It includes "entities by theme" (leukemias, solid tumors, genes, and cancer-prone diseases), "entitities by chromosome," reviews, case reports, a portal to databases and journals, and educational/consumer health resources.

Genetics and Your Practice

The March of Dimes has created this website to aid health care providers, particularly those working with preconception/prenata, infant/child, and adolescent services, with understanding and using genetics and genetic services in their practice. It includes numerous tools and guides, a self-assessment quiz to determine your facility with genetics, online CME, and an FAQ and glossary for genetics topics. Free registration is required for most resources on the page.

American College of Medical Genetics

The ACMG is the primary society for clinical and medical geneticists. The website has sections focusing on news and news releases, CD-ROM products, conferences, educational materials, and publications such as Genetics in Medicine and Standards and Guidelines for Clinical Genetics Laboratories (the latter is available for free download for educational purposes).

National Coalition for Health Professional Education in Genetics

This coalition was established by the American Medical Assocation, the American Nurses Association, and the National Human Genome Research Institute to promote the education of health professionals in genetics. Among other resources, NCHPEG sponsors GROW: Genetic Resources on the Web and the Core Competencies in Genetics Essential for All Health-Care Professionals.

Consumer Health Resources

Genetics Home Reference - Your guide to understanding genetic conditions

Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes responsible for those conditions. The resources on Genetics Home Reference should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome or condition should consult with a qualified healthcare professional.

Genetic Alliance

This non-profit, education and advocacy organization collects and organizes links to information about genetic diseases and conditions (particularly cancers), support groups, ethical issues in genetics, and news. Caution: information on this site is most appropriate for the medically savvy consumer and may need interpretation by a health professional.

AMA (Medical Science) Family History Tools

Tools available on this website include questionnaires to help parents determine the need for prenatal screening and the history of pediatric diseases in the family, as well as a form to help parents organize information about possible hereditary conditions.

Genetic Education Materials Database

This resource is a searchable database of clinical and public health genetics documents published by a variety of organizations, both governmental and non-profit. Many materials are available online; others are available in print, sometimes for a small fee. Users can search specifically for items aimed at the general public vs. professionals, and/or for specific diseases or other subjects.

Journal Articles

PubMed (MEDLINE)

PubMed, a service of the National Library of Medicine, includes over 14 million citations for biomedical articles back to the 1950's. These citations are from MEDLINE and additional life science journals. PubMed includes links to many sites providing full text articles and other related resources.

Selected Electronic Journals:

The library has a wide selection of journals available for your use, both in print and electronically. The titles selected below are specifically focused on clinical applications of human genetics. Many general genetics and human genetics/genomics journals are also available electronically. Please search the Catalog for print journals and the E-Journal Finder for electronic journals. (Hint: Searching the E-Journal Finder for the "genetics" subject finds more than 100 titles!)

Books & Other Publications

Search the UNC-Chapel Hill Catalog for books and reference materials.

Search Tip: The MeSH term for this topic is "Genetics, Medical". Try searching for this under "subject heading" in the Catalog to see the panoply of what's available to clinical geneticists!

Browse the Collection: The primary call number area for books about clinical genetics is QZ 50. However, you may find information on these specific topics elsewhere in the collection:

Eugenics - HQ 750
Gene expression profiling- QH 450.2

Chromosome disorders and aberrations - QS 677
Inborn genetic diseases in infants/children - WS 200

Selected E-books:

Clinical Genetics and Genomics