Scientists in the molecular diagnostics laboratory at Sacred Heart Medical Center & Childrens Hospital have caught the attention of major research institutions internationally with an invention that improves the quality and speed of complex genetic testing.


Though the laboratory is selling the product in small volumes, the process used to make it, which the hospital is patenting, could have much more far-reaching effects as a line of related products is developed eventually to improve the quality of genetic testing.


Dr. Bassem Bejjani, a genetic researcher here who had the idea for the new product, says the process shows promise for improving testing for cancer and infectious diseases, as well as in the emerging field of personalized pharmaceuticals.


By finding a way to create the productcomplex synthetic DNA strands for use in making comparisons with patients DNABejjani and researcher Todd Christensens innovation already is improving genetic screening for cystic fibrosis risk factors. The test is performed on the DNA of pregnant women to see if they are at risk of having children with the deadly disease.


The synthetic DNA was created to allow laboratories to show that their tests have worked properly. To confirm the results of a genetic test, laboratories must test both a known normal sample and a known abnormal sample for comparison, Bejjani says.


Bejjani and Christensen have designed a process for creating an abbreviated strand of DNA that has copies of numerous known genetic mutations. The cystic fibrosis DNA is the first product created with that process. Sacred Heart now is seeking to patent and license the process to a commercial manufacturer, with the hope that more synthetic DNA strands will be developed for other uses.


The product, which the laboratory is manufacturing itself, already is generating sales expected to reach about $200,000 this year, with a 15 percent to 20 percent net margin for the hospital, says Gerard Fischer, a Sacred Heart vice president.


It is growing, with cash flow that is paying salaries and consultants, and paying dividends for the hospital, Bejjani says.


About one full-time position currently is devoted to the production and testing of the product, which sells for about $1,500 per sample, with volume discounts offered, Christensen says. The laboratory hopes to turn production over to a commercial manufacturer soon, and is in negotiations with one such company for a licensing agreement that could include production of a whole line of similar products.


Additionally, the synthetic DNA is used here in the laboratory, creating significant savings for the hospital, Fischer says.


At Sacred Hearts laboratory, it takes roughly a day to produce about 5 milliliters of the synthetic nucleic acid that comprises the product, Christensen says. Thats enough for about 50 vials of one-tenth of a milliliter of solution, an adequate amount for 10 to 20 tests. After the material is produced, the laboratory spends several weeks testing each batch before it is ready to be shipped to customers, Christensen says. The lab expects to sell between 100 and 150 vials of the cystic fibrosis test control product to laboratories around the country, in Canada, and in Ireland this year, he says. Additionally, it is part of a quality control study that will send it to more than 100 additional labs internationally, he says.


Fischer says the hospital has entered into the business side of the endeavor, adding laboratory space, retaining a consultant and a patent attorney, and drawing up intellectual-property agreements with Bejjani and Christensen.


He says marketing a product is a different type of involvement for the hospital, complete with competition from other companies that are producing similar products made with different processes.


There is competition in the field. We pay close attention to their marketing, we adjust our strategy. Its very different from typical hospital business, Fischer says. He says what differentiates the hospitals product is that it is more complete.


We know who the big laboratories are, and theyre buying our product, Fischer says.


Bejjani says that at around the same time he began working at Sacred Hearts molecular diagnostics laboratory in 2002, the technology for testing for the genetic mutations that cause cystic fibrosis was vastly improved. New tests allowed laboratories to check for 32 common genetic mutations that can cause the diseaseand check all 32 mutations at the same time from a single patient DNA sample. Those efforts stemmed from a focus on testing all pregnant women for the genes, creating greater demand for the tests.


Even though the ability to test patient samples for all of the possible problems at once had been developed, it was impractical to test 32 comparison samples at the same time for each mutation, Bejjani says. Trying to do so made quality testing prohibitively expensive, he says, and test results became less reliable despite the technological advances.


Bejjani came up with an idea to improve the quality control of the cystic fibrosis test by creating a synthetic nucleic acid that would contain copies of the 32 most common genetic mutations in a single sample to compare with the patient samples. He took his idea to Christensen, who helped him develop the synthetic DNA in the laboratory.


Within several months, they had created a product, and had begun sending it to other research labs around the country to help confirm that it behaved the same way as a real DNA sample would in tests, as well as putting it into use at the laboratory here.


Bejjani and Christensen say the ability to use a comparison sample that includes multiple mutations brings the quality of genetic testing back to where it was when a single genetic factor was screened for in each test and compared with another sample known to be abnormal. They say there was such a small window of time between finding the genes that cause diseases and developing the tests for them that quality control lagged behind.


We went from growing cells on a plate to rapid molecular diagnostics, Bejjani says.


Bejjani says he and Christensen realized the potential of their discovery as more labsmajor ones, such as the Mayo Clinic and the Hospital for Sick Children, in Torontoheard about it through word-of-mouth and asked for the product.


In a lot of ways it was driven by them asking us for it, Bejjani says. The laboratory then approached the hospital administration to suggest applying for a patent.


The laboratorys invention is an example of the type of innovation that Sacred Heart would like to encourage, Fischer says. For similar reasons, he says, the hospital invested in Signature Genomic Laboratories LLC, which Bejjani formed with geneticist Lisa Shaffer in 2003 when they both came to Spokane from Baylor College of Medicine, in Houston. Bejjani now works mainly at Signature Genomic and, separately, is co-director of Sacred Hearts molecular diagnostics laboratory.


Eventually, the product could be approved by the U.S. Food and Drug Administration for general diagnostic use, but that will require higher volume commercial production, Bejjani says. Because the synthetic DNA strand is not FDA approved, its labeled for research only. Each laboratory that buys it is expected to validate the samples as well, Bejjani says.


While its producing the cystic fibrosis control, the laboratory currently is developing other synthetic DNA sets that can be used for tests that check for several genetic mutations simultaneously. One set under development is the Ashkenazi Jewish panel, which screens for a group of rare disorders for which people of Ashkenazi Jewish descent are at risk.


Bejjani says another, broader potential use in the future is the field of pharmocogenomics, a new discipline that can help doctors determine through DNA testing how different people will metabolize drugs, allowing health practitioners and pharmacies to personalize prescription medicine.


Contact Jeanne Gustafson at (509) 344-1264 or via e-mail at jeanneg@spokanejournal.com.