|A service of the U.S. National Library of Medicine®|
About Genetics Home Reference
Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
For additional information, see the Genetics Home Reference Fact
About Genetics Home Reference
Who sponsors Genetics Home Reference?
Genetics Home Reference is a service of the U.S. National Library of Medicine, part of the National Institutes of Health, an agency of the Department of Health and Human Services.
There is no advertising on this site, nor does Genetics Home Reference endorse any company or product.
What information is in Genetics Home Reference?
How are topics selected for Genetics Home Reference?
Genetics Home Reference selects topics from a variety of sources, including
Who develops and reviews the content on Genetics Home Reference?
Genetics Home Reference is developed by a Staff comprising genetics and public health professionals and computer and information scientists. Expert Reviewers perform a comprehensive review of each condition, gene, gene family, and chromosome summary before it is posted to Genetics Home Reference, and with each substantial revision thereafter. Genetics Home Reference also engages patient support and advocacy groups to provide feedback on website content. The date of the last comprehensive review is noted in each summary.
Genetics Home Reference extracts some gene information automatically from online scientific databases. This information is clearly marked, and it is not further reviewed before being posted to the Genetics Home Reference website.
How are web links selected for Genetics Home Reference?
Genetics Home Reference provides access to information from the National Library of Medicine, the National Institutes of Health, and other U.S. Government agencies.
To complement U.S. Government sources, Genetics Home Reference links to selected nonfederal web sites, consistent with Selection Criteria for Web Links. The links do not constitute an endorsement. We are not responsible for the content of those web sites.
Before seeking medical or health information on the web, consumers may review the MedlinePlus® topic on Evaluating Health Information.
What publications about Genetics Home Reference are available from PubMed?
Beaudoin DE, Longo N, Logan RA, Jones JP, Mitchell JA. Using information prescriptions to refer patients with metabolic conditions to the Genetics Home Reference website. J Med Libr Assoc. 2011 Jan;99(1):70-6. doi: 10.3163/1536-5050.99.1.012. PubMed PMID: 21243058; PubMed Central PMCID: PMC3016649.
Fomous C, Miller N. The role of National Library of Medicine web sites in newborn screening education. Ment Retard Dev Disabil Res Rev. 2006;12(4):305-12. PubMed PMID: 17183579
Fomous C, Mitchell JA, McCray A. 'Genetics home reference': helping patients understand the role of genetics in health and disease. Community Genet. 2006;9(4):274-8. PubMed PMID: 17003538.
Mitchell JA, Fun J, McCray AT. Design of Genetics Home Reference: a new NLM consumer health resource. J Am Med Inform Assoc. 2004 Nov-Dec;11(6):439-47. Epub 2004 Aug 6. PubMed PMID: 15298997; PubMed Central PMCID: PMC524623.
How can I learn more about Genetics Home Reference?
Several Learning Activities are available to help you explore the web site and find out about human genetics.
Frequently Asked Questions
Why doesn't Genetics Home Reference always include the most recent information from genetics research?
Genetics Home Reference is a starting point for consumers interested in learning about human genetics and inherited disorders. We strive to make sure that this information is current and accurate.
Scientists around the world are continually learning more about human genetics through research studies, including genome-wide association studies. Some of these studies produce conflicting or unexpected results that only future research will resolve. Genetics Home Reference usually excludes unproven or controversial information until it is clarified by additional studies.
What criteria are used by Genetics Home Reference to include or exclude certain information about a particular disorder?
As new data emerge from genetics research, Genetics Home Reference staff relies on some basic guidelines to determine what information to include on the web site:
How do I find the most current research information about a condition, gene, gene family, or chromosome?
Every condition, gene, gene family, and chromosome summary in Genetics Home Reference links to PubMed®, a service of the National Library of Medicine. Each of these links leads to a list of relevant articles from the biomedical literature. In addition, a link to references, located at the end of each summary, lists the scientific articles used to develop the content for that summary.
For more technical information, each gene and chromosome summary provides links to resources that are designed for genetics professionals and researchers. These resources include in-depth information about gene and chromosome structure, function, and variation. Additional links to cutting-edge research information can be found in the Resources for Genetics Researchers.
How does Genetics Home Reference decide which names to use for its conditions?
The title of each condition summary reflects recent research and guidance from experts in the field of medical genetics.
Genetics Home Reference lists many topics under more than one name, especially when the same condition may be known by different scientific, informal, and historical names. Each condition summary includes a list of additional names that people use to refer to the condition.
How does Genetics Home Reference decide which gene symbols and gene names to use?
This terminology typically includes the official gene name and gene symbol as designated by the HUGO Gene Nomenclature
Genetics Home Reference lists many genes under more than one name or symbol, especially when the same gene may be known by different scientific, informal, and historical names. Each gene summary includes a list of additional names and symbols that people use to refer to the gene.
For more information about how gene names and symbols are assigned, see How are genetic conditions and genes named? in the Handbook.
Why are gene symbols italicized in Genetics Home Reference?
The HUGO Gene Nomenclature Committee (HGNC) recommends that symbols for human genes be italicized whenever they appear in print. Protein names are not italicized. For more information, please see the HGNC's Guidelines for Gene
What is automatically extracted gene information and where does it come from?
Some of the gene information on Genetics Home Reference is obtained directly from other reputable databases, including NCBI
In some cases, information automatically extracted from NCBI Gene and UniProt may be slightly different from information provided elsewhere on Genetics Home Reference. These differences occur because Genetics Home Reference, NCBI Gene, and UniProt use different criteria for inclusion and exclusion of data, have different review processes, and are updated at different times. Because the field of human genetics changes quickly, these differences may lead to minor inconsistencies in the information presented. However, Genetics Home Reference includes the automatically extracted information to provide as much information as possible to the site's users.
What do the reviewed and published dates mean?
A “reviewed” date appears at the top and bottom of each summary of a genetic condition, gene, chromosome, and gene family on Genetics Home Reference. The reviewed date, which is specific to each page, indicates when the scientific content of the page was last reviewed.
The Genetics Home Reference website is published periodically with new summaries, updated links, and other improvements. The “published” date, which appears at the bottom of each page, indicates when the entire website was last refreshed.
How can I obtain a printed copy of the Handbook, Help Me Understand Genetics?
Genetics Home Reference provides a printable version of the entire Handbook, complete with illustrations. Choose Printable PDF on the Handbook page to access this version. You must have a PDF reader installed on your computer to read and print this type of file. The Handbook is not available in a pre-printed or booklet form at this time.
May I use illustrations or text from Genetics Home Reference?
You may copy and use illustrations and other content from Genetics Home Reference in accordance with the Terms and Conditions of Use. When crediting Genetics Home Reference as the source, you may follow the National Library of Medicine format on Citing the Genetics Home Reference.
Sometimes Genetics Home Reference illustrations are requested at higher resolution for use in other publications. These illustrations are created for the web, and unfortunately, high resolution versions are not available.
Can I subscribe to be notified of new information on Genetics Home Reference?
The What's New page always lists the latest topics on Genetics Home Reference. You can also Subscribe for Updates from Genetics Home Reference to receive announcements by email or RSS.
What if I still have questions?
If you have questions or comments regarding Genetics Home Reference, please contact NLM Customer