Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
Human Genome News, January 1998; 9:(1-2)
Since August 1993, Helix: A Directory of Medical Genetics Laboratories has been fulfilling clinician requests for names of laboratories that perform molecular genetic testing. The only resource of its type in North America, Helix was started by clinical geneticist Roberta A. Pagon (University of Washington), who recognized the need of genetic professionals for a centralized, computer-based directory of clinical and research genetic laboratories. Maxine Covington is the database manager.
Under contract with the National Center for Biotechnology Information of the National Library of Medicine, Helix has grown steadily to include 480 diseases for which testing is provided by over 300 laboratories. It lists laboratories by disease and provides information about testing methodologies and contact personnel. To discourage direct contact by patients and thus maintain the traditional relationship between healthcare providers and laboratories, Helix use is restricted to registered healthcare professionals, now numbering 4500. Providers are welcome to list their laboratories, register to use Helix, and provide feedback on the project. Helix services are free to both laboratories and clinicians.
In the first 3 years, most Helix users were genetic professionals such as counselors, medical geneticists, and researchers. Recently, more nongeneticists, particularly neurologists, have become users, presumably reflecting the large number of neurogenetic disorders for which molecular testing is used for routine diagnosis. Since the release of the Internet version in mid-October 1996, the use of Helix has more than doubled, with some 18,000 Internet inquiries in the first 7 months. Assisted access by telephone and fax yields another 20 to 30 inquiries a day.
Originally written in FoxPro, the Helix database was converted to an Informix-based system in the fall of 1997. The users’ view of Helix is unchanged, but improved data entry will facilitate database management, and expanded data collection and reorganization of data fields will permit the creation of detailed, categorized reports on Helix data and use. Reports on available testing can be used by insurance companies to help determine reimbursement of testing costs.
Future directions for Helix include adding gene names as a database-search parameter, providing more information about laboratory methodologies (e.g., direct vs linkage molecular testing, FISH, uniparental disomy). Other improvements will make a clearer delineation between research and clinical laboratories and establish links between Helix and laboratory Web sites.
To promote the appropriate use of molecular genetic testing in patient care, Helix staff members are pursuing funds to add educational materials to the database. A recent article pointed out concerns about clinical use of testing, including questionable testing strategies, inaccurate interpretation of test results, and failure to provide genetic counseling [Giardiello et al., N. Eng. J. Med. 336, 823 (1997)]. Access to educational information in Helix would help healthcare professionals who are not familiar with genetic-testing strategies and genetic counseling to understand the implications of testing.
Helix Directory of Medical Genetics Laboratories
Children's Hospital and Medical Centere
PO Box 5371, MS CH-94
Seattle, WA 98105-0371
206/527-5742, Fax: -5743
The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v9n1).
The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.
Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.