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In this section, GHR talks a little bit about the information they provide, the sources of this information and about their funding.

Genetics Home Reference is a public, comprehensive database that has been created in recent years by the US National Library of Medicine, the National Institute of Health and the Department of Health and Human Services as a resource for those seeking information about specific genetic abnormalities and conditions. The database caters to scientific professionals and novices alike with its highly organized and specific configuration and offers a user access to incredibly complex genetic disorder descriptions as well as approachable explanations and tutorials about basic genetic and genomic concepts. GHR also provides links to directories listing genetic counselors by zip code and a link to the National Cancer Institute's oncologist directory (1).

Genetic Home Reference Contents

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This is the home page of GHR.

The database is comprised of a wealth of information that can be divided into 7 discrete yet intimately related categories: Condition summaries, gene summaries, gene family summaries, chromosomal summaries, basic genetic information (found within a section entitled "the handbook"), a glossary of terms, and a link to other resources. On its home page, Genetics Home Reference divides its information into 2 broad categories (Genetic Disorders A to Z and Concepts and Tools) and further divides each of these categories into 3 sub-categories. 

Within "Genetic Disorders A to Z" Edit

Within Genetics Home Reference’s category "genetic disorders A to Z" there are 3 sub-categories: Conditions, genes and chromosomes. After selecting the link to "conditions", the user is taken to a page where conditions are segregated based on the organ systems they affect; a user can find their condition of interest by clicking on the affected organ system whereupon they will be redirected to an alphabetized list of all genetic the genetic conditions that effect that organ system. If one where to select the link to "genes", they would be redirected to a page whereby they could search for a particular gene by gene symbol or name, a group of genes by biological function or a particular gene family. This page also features several educational links to more basic information within the "Handbook", including information about the structure of DNA, what actually constitutes a gene and information about how a genetic mutation within a gene can affect one's health. The final sub-category within "Genetic Disorders A to Z" is chromosomes. Selecting this link would redirect the user to a page featuring links to pages dedicated to individual chromosomes as well as a link to information about mitochondrial DNA and links to information featured with the GHR handbook. Clicking on a specific chromosome will bring you to a page describing that particular chromosome, the genes it contains and the specific genetic diseases associated with mutations within these genes (1). 

Within "Concepts and Tools"Edit

Within Genetic Home Reference's category "Concepts and Tools" there are again 3 sub-categories: The handbook, the glossary and additional resources. The handbook provides the user with a general explanation as to what genetics actually entails, the inheritance of various genetic disorders, genetic counseling options, and information concerning the human genome project. Selecting the handbook option will redirect the user to a table of contents, which allows the user to refine their search and more easily navigate the immense quantity of information available to them. Once the user selects the topic they wish to learn more about from the table of contents, they are again redirected to a page featuring a list of possible topics within their selected category. In this way, the user is able to arrive at the answer they are seeking without having to shift through a myriad of extraneous information. The glossary simply provides an easy way for one to look up the definition of words they may find unfamiliar while the resources component of GHR provides the user with a series of links they can explore. The categories of links that can be found on this page include "Genetics News", "The Human Genome Project", "Understanding Medical Terminology" and links to resources available for those treating or caring for those with debilitating genetic disorders (1). 

Genetic Home Reference:  Contributors and History

GHR is a reference provided by the U.S. National Library of Medicine, a medical library based in Bethesda Maryland that runs under the direction of the National Institutes of Health, an agency under the United States Department of Health and Human Services. Genetic Home Reference does not allow any advertising on its site and has no affiliations with any commercial or academic establishments. Though any sort of detailed history on GHR could not be found on the site, a review of GHR's HONcode (Honor on the Net Foundation) certification reveals that the website was originally approved for launched in the January of 2007. The database is updated regularly and is subjected to intensive scrutiny every 2 years to renew its HONcode certification (1).


1. Genetics Home Reference