GeneReviews® [Internet]

Excerpt

GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in GeneReviews is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online.

GeneReviews currently comprises 927 chapters and has more than ten million users annually.

The two general formats for GeneReviews are: chapters focused on a single gene or phenotype (~95%) and overviews summarizing causes of common genetic conditions (e.g., genetic hearing loss, Alzheimer disease) (~5%).

To ensure continuing relevant and medically actionable content, each GeneReviews chapter is updated every four to five years (or as needed) by the author(s) in a formal and comprehensive process curated by the GeneReviews editors. Additional revisions may occur more frequently as needed to reflect significant changes in clinically relevant information.

Genetic counseling and testing terms used in GeneReviews are hyperlinked to definitions in the GeneReviews Glossary. Resource Materials include additional information on key genetics concepts used in GeneReviews.

GeneReviews are indexed in PubMed.

Note: For a variety of reasons, GeneReviews occasionally removes chapters from the active website. Click here for a list of retired chapters.