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Genetics Home Reference

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Project information

Genetics Home Reference is the National Library of Medicine Web site for consumer information about genetic conditions and the genes and chromosomes related to those conditions. This resource provides a bridge between the public’s questions about human genetics and the rich technical data that has emerged from the Human Genome Project and other genomic research. Created for the general public, particularly patients and their families, the Genetics Home Reference Web site currently includes user-friendly summaries of more than 1,100 genetic conditions, more than 1,300 genes, all the human chromosomes, and mitochondrial DNA. The Web site also includes a primer called Help Me Understand Genetics, which provides an illustrated introduction to fundamental topics in human genetics including mutations, inheritance, gene families, the genetics of normal human traits, genetic testing, newborn screening, gene therapy, genomics research, and precision medicine. Genetics Home Reference provides links to information from the National Library of Medicine, the National Institutes of Health, and other U.S. Government agencies.

Genetics Home Reference has been on the Web since 2003. The Web site was redesigned in 2016 with an improved look and feel and better navigation. It is completely confidential; no registration or personal information is required. Topics are added and updated on a regular basis and reviewed by experts in human genetics.

Collins H, Calvo SC, Greenberg K, Forman, NL, Morrison SM. Information Needs in the Precision Medicine Era: How Genetics Home Reference Can Help. Interact J Med Res 2016;5(2):e13 DOI: 10.2196/ijmr.5199
Morrison SM, Cheh M, Calvo SC, Collins H, Fun J, Greenberg K, Forman-Neall L. Genetics Home Reference, Ten Years In: Where We Are Now. American Society of Human Genetics, November 9, 2012, San Francisco, CA.
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.
Logan RA, Tse T. A Multidiscipline Conceptual Framework for Consumer Health Informatics Stud Health Technol Inform. 2007;129(Pt 2):1169-73
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
Morrison SM. Web Interface: Genetics Home Reference
Mitchell JA, Fomous C, Fun J. Challenges and strategies of the Genetics Home Reference J Med Libr Assoc. 2006 Jul;94(3):336-42
Mitchell JA, Logan RA, Calvo S, Cheh M, Fomous C, Fun J, Morrison S, Mucci D, Wolf P. Genetics Home Reference; A Report to the Board of Scientific Counselors May 2005 Technical Report to the LHNCBC Board of Scientific Counselors.
Mitchell JA, Fun J, McCray AT. Design of Genetics Home Reference: A New NLM Consumer Health Resource Journal of the American Medical Informatics Association. 2004 Nov.;11(6):439-447.
Mitchell JA, McCray AT. The Genetics Home Reference: A New NLM Consumer Health Resource AMIA Annu Symp Proc. 2003:936