George W. Bush was president, gas cost $1.59 a gallon and the Human Genome Project had just officially ended on April 25, 2003, the date that the National Library of Medicine’s Genetics Home Reference (GHR) debuted.
GHR is a free online resource about human genetics created for patients, families, and the general public. The Web site provides a bridge between the public’s questions about human genetics and the rich data that has emerged from the Human Genome Project and other genomic research.
“It was very intentional that GHR began on the same day that the Genome Project ended,” observed Stephanie Morrison, GHR coordinator and project manager. “There was so much technical information coming out, and the public was wondering what it all meant for their health. NLM staff saw that there were few places for consumers to get answers to their questions in lay language. To fill the gap, GHR was created.” (Interestingly, one of the founders of Genetics Home Reference, Dr. Joyce Mitchell, is now the chair of the NLM Board of Regents.)
GHR provides consumer-friendly summaries of genetic conditions and their associated genes, gene families, and chromosomes. The site also features a primer called “Help Me Understand Genetics,” an illustrated introduction to fundamental topics in human genetics including mutations, inheritance, genetic testing, gene therapy and genomic research. Additionally, GHR offers helpful background information, including a glossary of genetic and medical terms and links to numerous other quality resources. A “Spotlight” feature on the GHR home page highlights important observances and discoveries in the field of human genetics and draws attention to useful learning tools and clinical resources.
When it was launched a decade ago, Genetics Home Reference featured 19 condition summaries and 16 gene descriptions. Today, GHR offers consumer-friendly summaries of about 850 genetic conditions, more than 1,060 genes, more than 80 gene families, all of the human chromosomes, and mitochondrial DNA. New summaries are added regularly.
GHR currently receives about 43,000 visitors per day and 39 million hits per month, suggesting that it continues to be an important and useful health resource. Besides the general public, users include medical professionals, genetic counselors and journalists.
A relatively small staff maintains the site. In addition to Morrison, there are three full-time content developers, who are trained in genetics and have experience in science and medical writing. “We also have a part-time medical editor,” explains Stephanie Morrison, “and two fantastic Web developers. And we’re grateful to be able to leverage other talented staff at NLM to help out.”
Another secret weapon is the group of more than 650 content reviewers, based all over the world. “We identify these experts by reviewing the journal literature. They volunteer their time and do a great job,” Morrison said. “They help us ensure that GHR content is accurate and up-to-date. Comments from these genetics experts are consistently positive,” Morrison added, “and often include the words ‘accurate,’ ‘timely’ and ‘informative.’”
Stephanie Morrison earned her Bachelor of Science degree in biology from the College of William and Mary and her Master of Public Health degree from the University of Maryland, College Park. She also studied genetic counseling at the Medical College of Virginia, which makes her especially sensitive to patients and parents going through that process. “Learning you have a genetic condition or health concern can be scary and confusing. It’s gratifying for us to know that people use GHR as a starting point in their research and find it helpful.”
With one successful decade under its belt, one wonders what new resources GHR will offer in future years to educate the public about the fast-growing field of human genetics.
By Melanie Modlin, NLM in Focus Contributor