Databases in Genetics Clinics


Medical geneticists, genetics counsellors and nurses in genetics who staff medical genetics clinics rely upon internet‐accessible and stand‐alone databases for access to the medical literature, for disease recognition, for current information on genetic test availability and use, for patient‐support materials and for locating other genetics professionals.

Keywords: Genetic testing; Molecular genetic testing; Genetic counselling; Prenatal diagnosis; Inherited diseases

Figure 1.

Search strategies for OMIM.



Hamosh A, Scott AF, Amberger JS, Bocchini CA and McKusick VA (2005) Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Research 33 (Database issue): D514–D517.

Mitchell JA, Fun J and McCray AT (2004) Design of Genetics Home Reference: a new NLM consumer health resource. Journal of American Informatics Association 11: 39–47.

Pagon RA, Tarczy‐Hornoch P, Covington ML et al. (2002) GeneTests and GeneClinics: genetic testing information for a growing audience. Human Mutation 19: 501–509.

Pagon RA (2006) GeneTests: an online genetic information resource for health care providers. Journal of Medical Library Association 94: 343–348.

Further Reading

Snow K (2001) The growing impact of genetics on health care: do we have appropriate educational resources? Mayo Clinic Proceedings 76: 769–771.

Taylor MR, Alman A and Manchester DK (2001) Use of the Internet by patients and their families to obtain genetics‐related information. Mayo Clinic Proceedings 76: 772–776.

Web Links

Family Village. Provides information for parents of individuals with cognitive and other disabilities

Genes and Disease. Developed by the National Center for Biotechnology Information (NCBI) offers full‐text information on selected genetic diseases

GeneTests. The Laboratory Directory provides listings of laboratories offering molecular genetic testing; the Clinic Directory provides listings of clinical genetic services; and GeneReviews presents full‐text inherited disease descriptions and related tests

Genetic Alliance. Provides information about diseases, organizations, patient advocacy

Genetic and Rare Diseases Information Center ( Established by the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases (ORD), this site has trained information specialists who answer in English and Spanish questions from the public.

Genetics Home Reference. Developed at the National Library of Medicine offers consumer information about genetic conditions (

London Medical Databases. A commercial site for purchasing Winter‐Baraitser Dysmorphology Database, Baraitser‐Winter Neurogenetics Database, London Ophthalmic Genetics Database (GENEEYE)

National Newborn Screening & Genetics Resource Center (http://genes‐r‐ Funded by the Maternal Child Health Branch and located at the University of Texas Health Science Center at San Antonio, this site provides contact information for newborn screening laboratories and follow up programs by state and information for primary care providers about next steps for diagnosis and management of infants who test positive on newborn screening.

NOAH (New York Online Access to Health). Provides high quality, bilingual (Spanish and English) health information to consumers http://www.noah‐

NORD (National Organization for Rare Disorders). Provides information on orphan drugs and rare diseases. There is a minimal charge

OMIM (Online Mendelian Inheritance in Man). A comprehensive catalogue of genes and phenotypes developed by Dr Victor McKusick

Physician Data Query Cancer Information Summaries. Part of the National Cancer Institute's comprehensive website, provides a Cancer Genetics Overview and Elements of Cancer Genetics Risk Assessment and Counselling

POSSUM. A commercial site for purchasing this CD‐based database to help clinicians diagnose syndromes in their patients

U Kansas Medical Center Genetics Education Center. Provides primarily consumer information

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Pagon, Roberta A(Apr 2007) Databases in Genetics Clinics. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005574.pub2]