Soon after announcement of the human genome map in April 2003, the National Library of Medicine (NLM) launched a new Website called Genetics Home Reference. Its purpose is to make the connection between genetics and disease more understandable for the general public. In a sense, it is a project in genetic literacy. With the mapping of the human genome and the changes this has already brought and will surely bring to medicine, the Website is a timely effort.
Genetics Home Reference provides information in high-school-level language about genetic conditions and the genes related to those conditions. While there are literally hundreds of genetic conditions, at the time of this review, only ninety-one genetic conditions were covered, together with information on eighty-one of the genes related to those conditions. However, NLM adds new information on a regular basis and, in the first five months of its existence, seventeen new genetic conditions and twenty-three genes were added to Genetics Home Reference.
This ambitious project is off to a solid start. Alexa T. McCray, director of the Lister Hill National Center of Biomedical Communications, and Joyce A. Mitchell, professor at the University of Missouri–Columbia, guide the project. Under their leadership, the genetics content is developed by a team of board-certified medical geneticists, biologists, and computer and information scientists and includes an outside review panel composed of medical genetics experts.
The major features of the Genetics Home Reference Website are Genetic Conditions Summaries, Gene Summaries, Help Me Understand Genetics, and a Glossary. The Genetic Conditions Summaries include, in a question-and-answer format, a brief description of each condition, signs and symptoms, genetic causes, prevalence, diagnosis, treatment information, and other names by which conditions are known. Links are provided for more information, and the helpful Glossary is just a click away.
The Gene Summaries, again in a question-and-answer format, include normal gene functions, changes in genes causing certain conditions, locations of the genes on the chromosome, alternative names for genes, links to more information, and links to the Glossary for terms used in the summary.
In the section Help Me Understand Genetics, six chapters provide short explanations of genes and how they work, genetic disorders, gene therapy, genetic consultation, genetic testing, and the Human Genome Project. Each chapter answers typical questions an individual might ask to learn more about genetics. Links to further information are provided for each area.
The Glossary can be searched or browsed and is linked extensively throughout the other sections. Seven identified resources are drawn upon for the definitions; therefore, more than one definition may be given for a particular term.
There are two primary ways to navigate Genetics Home Reference: via a search bar or through its browse capabilities. The search bar feature on the home page searches for keywords or terms in Gene Summaries, Genetic Conditions Summaries, and Help Me Understand Genomics. The Search Tips link brings the user to helpful information on constructing a successful search. One annoying aspect of the search feature is that after entering a keyword or phrase, a list of responses is retrieved but the response page itself does not have a search bar. The user must use the back key or click on the Search Link to return to the search bar option. Another popular NLM Website for the public, MEDLINEplus, has the search bar capability on every page; doing so on the Genetics Home Reference Website would be an enhancement, saving users time and another dreaded click.
The Browse feature allows users to leaf through Website content in a number of ways. Genetic conditions can be perused alphabetically by name, such as Apert syndrome, or by category, such as blood/lymphatic system or cancers. Genes may be browsed alphabetically by their symbol, like BRCA1, or by their full name, like breast cancer 1, early onset. Genes may also be browsed by category. Biological process, cellular component, and molecular function are the three categories designed to allow users to home in on a gene's products or effects. It is questionable how helpful this section is for most members of the general public. Novice users need to use a lot of guesswork, or at best deductive reasoning, to find the gene in question. Except for students who need to research genes by category (for example, genes which affect “cellular processes”), consumers may find this feature intimidating.
On the plus side, many helpful features abound, such as the Glossary links for each genetic condition or gene summary. Links are also provided to relevant clinical trial information, nearby genetics clinics, and genetic counselors as well as to topical search results for both MEDLINEplus and PubMed. The Resources section is rich with links to genetics news, patient support resources, education resources, and the Human Genome Project.
Some links to resources do not make sense on a Website whose primary audience is the general public, such as those to medical genetics professional sites and genetics databases for researchers. Another small drawback is the reading level of the site, which tests at the twelfth grade. NLM is clear in its description of the database being written for high-school reading levels. However, if its intention is to reach the mass public, whose average reading level is sixth grade, more work needs to be done to simplify this most complex area of medicine. This will be no small feat.
As users would expect from a National Library of Medicine product, Genetics Home Reference adheres to Website standards for quality health and medical information and meets criteria for accessibility. While narrower in focus, it joins other sites like the Department of Energy's Human Genome Project Information (http://www.ornl.gov/TechResources/Human_Genome/) and the National Human Genome Research Institute (http://www.genome.gov) in the important task of making genetics information both meaningful and accessible to the general public. Genetics Home Reference is a welcome addition to genetics literature.