Frequently Asked Questions (FAQ)

Genetics Home Reference is the National Library of Medicine's web site for consumer information about genetic conditions and the genes or chromosomes responsible for those conditions.

The resources on this site 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. See How can I find a genetics professional in my area? in the Handbook.

Each condition, gene, and chromosome summary provides a link to PubMed®, a service of the National Library of Medicine that provides access to over 12 million biomedical citations in its MEDLINE® database. The information retrieved by the link is current, from the last 1 to 5 years, depending on the topic. "Sources for Page," located at the end of each summary, usually provides links to several recent articles relevant to the topic.

The main health topics in MedlinePlus® that have a genetic component are selected for inclusion in Genetics Home Reference. If your topic of interest is not yet included, please check back regularly for new information.

Yes, information on Genetics Home Reference is reviewed regularly by expert reviewers to ensure that it is accurate and up-to-date. Experts in clinical genetics perform a comprehensive review of each condition and gene summary before it is posted to Genetics Home Reference and annually thereafter. The date of the last comprehensive review is noted at the bottom of each summary. Between annual reviews, the Genetics Home Reference staff monitors recent findings and, with the input of experts in the field, incorporates new information as necessary.

The Genetics Home Reference does not provide an exhaustive list of resources, but links to a selective list of health information sources from the National Institutes of Health and other organizations. A pointer to selection criteria is found at the bottom of each web page. An icon () signals that a link leaves Genetics Home Reference.

Each summary on the Genetics Home Reference provides links to other resources for genetic information. A link to the Genetic and Rare Disease Information Center is located at the end of each genetic condition summary. Additional resource links are found in the left margin of each summary.

Some of these resources, such as OMIM, GeneReviews, and LocusLink, are designed for genetic professionals, and these sites tend to use technical or clinical language. Information provided by links to MedlinePlus®, Genes and Diseases, Patient Support Resources, and Other Resources is written for the general public. Also, the toolbar at the top of each page displays a link to Resources, which provides additional web sites for genetic information.

If you are looking for a genetic counselor or other genetics professional, see Genetic Consultation in the Handbook. This chapter provides suggestions for finding a medical professional who specializes in genetics and explains what happens during a genetic consultation.

A genetic consultation can answer any specific questions you may have about genetic testing. For general information, refer to Genetic Testing in the Handbook. Additionally, a link to GeneTests displays in the left margin on many condition summary pages. GeneTests provides a list of laboratories in the United States and other countries that provide testing for particular conditions and genes.