What is MedlinePlus Genetics?

MedlinePlus Genetics is part of MedlinePlus, a resource for consumer health information from the National Library of Medicine (NLM). MedlinePlus Genetics provides information for the general public about the main features and inheritance of genetic conditions as well as the normal function of related genes and chromosomes and how genetic variations contribute to conditions. MedlinePlus Genetics also includes an educational handbook called Help Me Understand Genetics that explores topics in genetics ranging from the basics of DNA to precision medicine.

MedlinePlus Genetics contains information originally created for Genetics Home Reference. In October 2020, content from Genetics Home Reference was integrated into MedlinePlus.

How is content chosen for MedlinePlus Genetics?

For a specific condition to be included in MedlinePlus Genetics, it must have a known or suspected genetic component, meaning that gene variants cause the condition or increase the risk of development of the condition.

For a particular gene to be associated with a condition in MedlinePlus Genetics, genetic variations must have been identified in two or more affected, unrelated individuals or families or have a significant influence on the risk of the development of the condition.

In most cases, data must be available from human studies whose results have been confirmed by other research (replicated). Research findings are usually excluded if they come from studies done only with animals or with populations of human cells that have been maintained artificially for long periods of time (cell lines).

MedlinePlus Genetics is designed to help users find appropriate, authoritative information about human genetics. As part of this mission, we provide links to information from the National Library of Medicine and the National Institutes of Health. To complement these resources, MedlinePlus Genetics links to a few other pre-selected websites in its summaries.

How are genetic conditions named in MedlinePlus Genetics?

The name of each condition on MedlinePlus Genetics reflects terminology used by researchers, clinicians, and patients. We use the following resources to select a condition name on MedlinePlus Genetics: GeneReviews, OMIM, GARD, MeSH, Orphanet, support and advocacy groups, and scientific literature. If there is no consensus among these resources, staff use their professional judgment to make a final decision.

Many genetic conditions on MedlinePlus Genetics are known by more than one name, such as different scientific, informal, and historical names. Each condition summary includes a list of additional names that people may use to refer to the condition.

How are gene names and symbols chosen in MedlinePlus Genetics?

MedlinePlus Genetics uses standardized gene terminology from the National Center for Biotechnology Information (NCBI) Gene database. This terminology typically includes the official gene name and gene symbol as designated by the HUGO Gene Nomenclature Committee (HGNC). MedlinePlus Genetics italicizes symbols for human genes in accordance with the HGNC Guidelines for Gene Nomenclature.

MedlinePlus Genetics lists many genes under more than one name or symbol, especially when the same gene is known by different scientific, informal, and historical names. Each gene summary includes a list of additional names and symbols that people may use to refer to the gene.

How does MedlinePlus Genetics cover diagnosis and management of genetic conditions?

Typically, MedlinePlus Genetics summaries do not include detailed information about the diagnosis, treatment, and management of particular conditions. The understanding and availability of diagnostic and treatment approaches can change quickly, and we do not want to present outdated or incomplete information on these topics.

Instead, MedlinePlus Genetics offers links to other trusted resources for genetic testing options and clinical trials. These resources can be found in the "Additional Information and Resources" section on each genetic condition page.