With the ongoing interest in the latest iteration of next-gen sequencing, we thought it would be a good time to take a look back at some early developments in the automated diagnostic DNA seqeuncing field. Thus, this issue’s article commemorating GEN’s 30th anniversary is reprinted from July 1993. The story reports the opening of the world’s first clinical diagnostic laboratory for automated DNA sequence analysis.
The new lab was largely the result of a collaboration between the Eye Research Institute of Canada (ERIC) and Pharmacia Biotech. Now that’s a noble company name in bioindustry lore! Long one of the most innovative life science instrument and fine chemical firms, Pharmacia Biotech later became Amersham Biosciences until it was acquired by GE Healthcare in 2004.
The essence of the article revolves around the fact that to diagnose retinoblastoma in children, ERIC relied on the Pharmacia Biotech A.L.F. Automated DNA Sequencer. This marked the first time that a sequencer, primarily developed as a research tool, was to be used in a clinical setting.
This story is the latest example of our decision to reprint an article from one of GEN’s early issues in each issue in 2011. All these stories demonstrate a particular significance and relevance for the life science research community.
—John Sterling, Editor in Chief
“As Seen in GEN—Flashback” Volume 13, Number 13, July 1993
First Automated Diagnostic DNA Sequence Lab Opens Doors
By Stephanie Yanchinski
The Eye Research Institute of Canada (ERIC) has opened its doors in Toronto as the world’s first clinical diagnostic laboratory for automated DNA analysis. At the opening, ERIC, in partnership with the Swedish firm Pharmacia Biotech and the Canadian Genetic Diseases Network, unveiled a system for routinely diagnosing retinoblastoma (RB), a relatively rare inherited tumor that can result in total blindness or death in young children.
The Diagnostic Laboratory of the Twenty-First Century (DL21C) will use the Uppsala-based company’s Sequence-Based Diagnosis (SBD™) for analyzing human DNA base by base. SBD integrates a package of technologies for the entire process, from extracting the DNA from blood or biopsy to presenting results in a computer printout.
However, according to John K. Stevens, Ph.D., ERIC’s director, “This is just the beginning. It provides a foundation for diagnosing many other diseases in a cost-effective way.” He believes that eventually SBD may have the capability of detecting up to 4,000 genetically linked conditions long before symptoms appear. “This makes early intervention—and cures—much more likely,” he says, with substantial cost savings to the healthcare system.
The Eye Research Institute of Canada was conceived in 1984 by a group of ophthalmologists to pursue innovative research programs to help cure eye disease and prevent blindness. The Institute’s facility was created with a C$4.5 million grant from the Ontario government. Corporate sponsors such as the Royal Bank of Canada and the Canadian Imperial Bank of Commerce and a number of foundations contributed $3.5 million, paving the way for the establishment of the DL21C.
The project to develop automated sequencing—the key to DL21C—began three years ago when Dr. Stevens and Brenda Gallie, M.D., director of molecular genetics at the Institute and senior scientist of the department of ophthalmology, immunology and cancer at the Hospital for Sick Children in Toronto, became convinced that automation was the best route for diagnosing inherited diseases like RB.
They turned to Pharmacia Biotech for help and the company worked closely with the Institute’s team of ten clinical researchers. Pharmacia supplied sequencers, reagents and the support of their systems experts to help make SBD a reality.