GeneTests: An Online Genetic Information Resource for Health Care Providers*
Pagon, Roberta A., Journal of the Medical Library Association
Objective: This paper describes the GeneTests genetic testing information resource with a focus on the GeneReviews component.
Methods and Findings: The need for authoritative genetic testing information and issues in the development and maintenance of GeneReviews are discussed: Hampered by lack of currency and content deficits, traditional medical information resources such as textbooks and the published literature are generally inadequate sources of genetic testing information. Problems encountered in developing GeneReviews include the evolution of new authorship models and academic and genetics professionals' skepticism about the quality of Web-based publications.
Conclusions: GeneTests is an authoritative, highly used, and well-regarded resource in the international medical community that is intended for health care providers. Future development issues to address include ways to (1) manage the increasing editing and updating load as content grows and (2) address technical and content issues that need to be considered in displaying GeneReviews as a "just in time" resource in the electronic medical record to achieve the project goal of integrating appropriate use of genetic testing into patient care.
GeneTests, an online genetic testing information resource , consists of several integrated resources: a genetic testing laboratory directory; a genetics clinics directory; an extensive illustrated glossary of genetic testing terms; and GeneReviews, expert-authored summaries of information about disease diagnosis and management, genetic testing and counseling, and genetic pathogenesis . This paper primarily discusses the development and content of the GeneReviews portion of GeneTests, focusing on the need for the resource, issues in its development, and future directions.
The GeneTests resource began production as a directory of genetics laboratories in the 1990s to facilitate location of laboratories offering DNA-based (molecular) genetic testing. Prior to the inception of GeneTests, locating such laboratories was an arduous task that required, in the words of one GeneTests user, "memory, colleagues, literature, and luck." Funded by a National Library of Medicine contract (NO-1-LM-3506), GeneTests, originally known as Helix, began in 1992 as a "Yellow Pages" for genetics laboratories with listings for about 100 US laboratories offering molecular genetic testing for about 100 diseases. Registered health care providers telephoned in about 10 to 15 daily requests for laboratory information to the project manager who faxed back the search results.
From the first release of Helix/GeneTests, it was clear that providing easy access to molecular genetic testing information through a yellow pages format was only the first step in incorporating appropriate use of molecular genetic testing into patient care. A "users' manual" was needed to help health care providers understand the technical strengths and weaknesses of the molecular genetic testing offered for each disorder, the medical uses of molecular genetic testing in disease diagnosis and patient management, and the genetic counseling implications of the diagnosis of an inherited disorder for both the patient and extended family. An additional consideration for a number of disorders was the ethical implication of predictive testing that identifies the presence of a genetic disorder before it clinically manifests.
To develop this users' manual, grant funding was obtained from the National Institutes of Health (NIH) (1 P41 LMHG06029) in 1997 forGenline: An Electronic Clinical Genetics Knowledge Base. Genline eventually evolved into the GcneReviews portion of the GeneTests resource. GeneReviews is a resource of high-quality content on the use of molecular genetic testing in diagnosis, management, and genetic counseling of inherited disorders. GctieRn'iiit's uses a highly structured format with specific content requirements, distributed authorship, and traditional peer review to promote the appropriate use of genetic testing in patient care by providing current, synthesized, easily accessed information free of charge. …