Launched in April 2003, Genetics Home Reference is a confidential website that helps consumers find answers to their questions about genetics by providing access to the rich, technical data emerging from the Human Genome Project. MedlinePlus Health Topics containing genetic components are used to determine the genetic conditions and genes identified on Genetics Home Reference. Experts in clinical genetics review each genetic condition and gene summary for accuracy and relevance.

Genetics Home Reference allows consumers to browse or search by condition or gene summaries. Condition summaries include a description, frequency, genetic cause, and pattern of inheritance for each condition. Gene summaries provide a description of the normal function of the gene, gene chromosomal location, official gene name, gene symbol, and a description of how mutations result in genetic conditions. Additionally, condition and gene summaries provide links to consumer-friendly information and links to advanced resources for researchers and clinicians.

Other features of Genetics Home Reference include a basic explanation of genetics, a glossary of relevant genetic and medical terms, and a selective list of health information resources from the National Institutes of Health (NIH) and other organizations.