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Note: Pages in this archival exhibit describe a project which was conducted between October 1992 and April 1994.

Helix: A National Directory of DNA Diagnostic Laboratories

As the clinical component of the Bench to Bedside Project, Helix, a computerized directory of laboratories providing DNA diagnosis for clinical services and for research, was developed at the Childrens Hospital Medical Center in Seattle. The directory serves as a link between laboratories and care providers. Discussions are underway to make Helix accessible over the Internet through the University of Washington's campus information system. Helix is of particular use at Shodair Hospital, in Helena, Montana, because of the work being done there with genetic disorders--use which illustrates the Bench to Bedside concept.

Maxine Covington:

Helix was founded because of the concern that clinical geneticists and genetic counselors can't keep up with all the rapid breakthroughs in molecular diagnosis of inherited disease. When clinicians see a patient with a genetic disorder, they may not offer a diagnostic or research test because they don't realize the test is available, or they may not be able to locate the lab which performs the test. Alternatively, they may waste several hours trying to locate a test which doesn't exist.

Helix can provide this kind of information in a single phone call. Someone might call or fax the Helix office with something like, "We have a patient with a question of Williams syndrome. Are there any labs doing molecular testing for this?" There are only a couple of labs currently doing this kind of testing, so it can be like looking for a needle in a haystack for the clinician. But I can call up the Williams report from the database and fax it to the caller immediately. We generally try to promise a 24-hour turnaround time, although usually it's much quicker than that. Another advantage of using Helix is that I can offer the clinician a more comprehensive list of laboratories for a certain test than they might be able to find on their own. They contact the labs themselves and determine which is most suitable to their particular need. Helix is open to all North American laboratories at no cost.

We're now getting about 25 calls a day. 1500 people are registered to use the service. We have information on 170 labs doing molecular work with more than 200 different disorders. All of those numbers increase every day. The response has been very enthusiastic. I hear anecdotal reports all the time about how Helix has improved service delivery and ultimately quality of life for families with inherited disease.

Joan Fitzgerald counsels a family concerned about an inherited disorder.

I used the Helix service when I was counseling a couple who were expecting a child. The husband, who is affected with a genetic disorder, became concerned about prenatal diagnosis. I needed to know if prenatal testing was available and which labs would provide it. I made a call to the Helix service and within ten minutes I had a list of labs that provide the testing.

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