The National Library of Medicine (NLM) in the USA creates both professional and consumer health information resources. One of its consumer health products is the Genetics Home Reference (GHR), a free Web‐based database designed to help the curious non‐professional learn about human genetics, particularly genetic conditions. The database itself contains searchable and browsable definitions of genetic conditions and informational summaries about individual genes. These definitions include links to the subject in other NLM and US government‐sponsored materials online. The GHR also includes a glossary and a document called “Help me understand genetics”, which provides basic information intended to help readers new to genetics utilize the resource to its full advantage.
The GHR is easy to navigate and has an attractive, sparse user interface. Relatively free of bells and whistles, it requires only a browser to view, and includes few images; it follows fairly standard Web site architecture. Users’ experience, however, could be improved if certain pages and functions were merged. For example, the glossary search resides on a different page from that on which all of the other components are searchable. Also confusing is the differentiation of the types of resources available from a genetic condition description page. The page describing beta thalassemia includes a link to “Patient support”, leading to a list of Web pages for advocacy groups and research institutes; “Other resources” leads to a page at the University of Rochester Medical Center, aimed at consumers, about thalassemia. (It's also worth noting that the criteria by which these sources were chosen are missing.) In these cases, the organization of the resource could be tighter than it is. On the whole, however, its structure is logical.
Free and available to anyone, the Genetics Home Reference is a fine starting point for research on a diagnosis or about a specific gene, particularly because it offers users a number of ways to proceed after they have exhausted its information on a particular topic. It would be improved by more information about why certain resources were chosen, and by a slightly more compact organization. However, it will doubtless be of use to students and patients, as well as practitioners, who need quick answers about human genetics.
