What do you get when you cross Genetics with Pathology and Hematology? FISH, of course.
DSM’s new FISH (fluorescent in situ hybridization) Lab is a first for DSM in that it has brought three disciplines together to create a multidisciplinary service that will improve testing capabilities and access for all three disciplines.
“The creation of this lab presented a unique first opportunity to change the way we look at things,” said Lisa Manning, Pathology Technical Director. “Coming from a culture of working independently within our own disciplines to having multiple disciplines collaborating on a common service is a new concept.”
FISH is a genetic test used to detect a specific DNA sequence on a chromosome, mapping genetic material in a person’s cells. Historically, the test has been used to visualize DNA rearrangements to diagnose microdeletion syndromes, which are chromosome deletions too small to be detected by conventional cytogenetic methods. As science discovered more about the genetic association between cancers and other diseases, the applications for FISH testing grew. FISH now has a role in determining best treatment options for cancer patients as well as monitoring effectiveness during treatment.
“We are gaining time,” said Dr. Angie Dawson, Molecular Cytogeneticist and Director of DSM’s Cytogenetics Laboratory, referring to what she regards as the biggest improvement that FISH will bring. “We are learning not only new technical and interpretive skills, but also the terminology and frames of reference of other disciplines. This will be evidenced by a reduction in send-outs, which will allow for earlier diagnosis and initiation of appropriate therapy and, hopefully, an improvement in outcomes.”
The DSM multidisciplinary FISH lab was able to acquire two new and sophisticated technologies that would not have been possible as individual discipline labs: a high capacity loader, which speeds up the analytical process by automatically scanning slides with the appropriate FISH probes; and a SKY (spectral karyotyping) interferometer, which uses spectral karyotyping to solve complex chromosomal rearrangements for both constitutional and oncology samples, not identifiable by standard cytogenetic techniques.
Genetic testing is very detail oriented and requires great precision and skills. As revolutionary as the new SKY equipment is, it still requires approximately three days to manually prepare cells for analysis using this technology. Cells need to be sequencially ordered under a microscope and then individually dyed with the appropriate combination of five unique dyes to make up 24 distinguishable colours that will allow SKY to identify the 22 autosome chromosome pairs and the gender X and Y chromosomes.
Since the acquisition of this new equipment, SKY has been successfully utilized in leukemia patients to identify abnormalities that would have previously remained unidentified. In addition, a manual FISH test to determine the presence of the X and/or Y chromosomes in Turner syndrome patients and newborns with ambiguous genitalia has been automated on the new system, allowing for a faster turn-around-time. We have also validated a new FISH test to detect variants of acute promyelocytic leukemia (APL), which is associated with a high tendency to life threatening disseminated intravascular coagulation (DIC). As well, FISH tests for multiple cancer genes involved in lymphomas and solid tumours are currently under validation. We are also proceeding with the development of FISH tests for chronic lymphocytic leukemia (CLL) and multiple myeloma (MM), which we anticipate to be implemented next year.
“Not only are we sharing equipment and reagents but we are bringing together the expertise of multiple disciplines and sharing these highly skilled staff,” said Lisa.
Dr. Michel Nasr, Hematopathologist, credits the success of this project to the teamwork of its users, and their recognition that multidisciplinary understanding and cooperation results in more effective and comprehensive patient care.
“The establishment of local infrastructure for FISH testing will allow for the development and implementation of future tests and has the potential to foster scholarly research,” he said.
The numerous advantages of this multidisciplinary approach make this a model project for other potential collaborations.
“This is only the beginning for the FISH Lab and for multidisciplinary partnerships,” emphasized Lisa. “As we explore ways to innovate our services more and more shared opportunities will present themselves.”