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The continuing impact of molecular diagnostics

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As the laboratory transitions away from old standards and into new advances in technology, testing and, eventually, treatment and diagnosis, modern laboratory professionals are adjusting with the changing times.  In a recent interview, Gregory Tsongalis, PhD, professor of pathology and director of the molecular pathology program at the Geisel School of Medicine at Dartmouth and the Dartmouth Hitchcock Medical Center, talked shop -- discussing advances in molecular diagnostics throughout the field, as well as the potential impact of new technologies in clinical laboratories

"I think the modern medical lab, including molecular diagnostics, is going to be very, very automated," said Tsongalis. "Whether you're a high-volume lab or a low-volume lab, there are different types of instruments you can bring in to automate the different levels of testing you're doing."

After an unprecedented growth in the last 20 years, infectious disease testing remains the highest-volume of testing in the industry. Despite such a high volume of testing, the number of organisms and viruses detected in clinical practice has begun to plateau recently.  Additional applications such as monitoring and viral load testing not only help diagnose what a patient has, but also allow physicians to monitor a patient's response to treatment and therapy.  For Tsongalis, the only question that remains is how to increase speed and precision while decreasing costs.

"I think the industry still recognizes the support that's needed from molecular infectious disease testing," he continued, later naming Oncology as another up and coming field. "There are new technologies that are coming, including automation and turnkey systems. These systems make it real simple for anybody to do this type of test using disposable one-time use cartridges.  So, I think the industry support still going to be there, but it's evolving into becoming much, much better than anything we've had in the past."

A breakthrough technology that has everyone talking is next generation sequencing (NGS).  In his interview, Tsongalis compared it with the polymerase chain reaction (PCR), stating that NGS is essentially this generation's PCR in terms of advancements to be gained in the field.  With all of its potential, however, it's important to remember that it also has its limitations.  With automated Infectious disease turnkey testing systems churning out results in as quickly as 24 hours, the turnaround time for NGS remains too slow to be a primary method for rapid "STAT-like" applications. 

"It's a game-changing, revolutionizing technology," explained Tsongalis. "I've got to tell you that I don't know if I've seen this much excitement around new technology in my career -- even with PCR.  Everybody seems to be really excited about next generation sequencing, but I think we may have to put that into context because it has its limitations -- there are things it can and can't do well."

Despite the time constraints, NGS has had a huge influence on testing already, allowing for treatment approaches like targeted therapy and companion diagnostics.  These approaches introduce more personalized treatment options and provide a safety net for physicians as they can double-check potential therapies with hard data research to ensure the most effective patient treatment.  While NGS has shown promise in dealing with cancers screenings, it has potential all over the map in the scope of medical testing.

"The one that comes to mind the most is in cystic fibrosis, where we would do molecular testing looking for several common mutations in the CF genes to help confirm the diagnosis or for counseling purposes," Tsongalis explained. "We can now sequence the entire gene at a lower cost than mutation panel testing. In addition, this past year has seen a few novel drugs that have come out that have been able to reverse some of the defects in the protein for that disease - but it's only in patients that have had specific mutations."

With the changing atmosphere of the laboratory and the mass amount of information afforded by NGS, laboratories are in an evolutionary period and laboratory professionals will have to adapt to survive. The testing facilities of the future will require laboratorians to wear many different hats. Tsongalis noted the role of bioinformatics in association with genetic testing, discussing the prospect of multi-purpose laboratories with generalist staff who are well-versed in genetic studies to improve diagnostic precision.

"The field is absolutely exploding. When I started my first lab -- approximately 20 years ago now," he said. "We focused on a few high-volume infectious disease tests like Chlamydia, Gonorrhea and HIV.  And, with the genome project, all the new genes -- the association with different genetic diseases -- the genetic testing volume started to grow and continued to grow." 

Growth is exactly the word.  Molecular diagnostics is an area of clinical science that continues to work its way into every field.  As advancements in technology mold the treatment process and genetic sequencing makes its way to the forefront of the industry, the application to treatment and diagnosis will always serve as a pioneer for improvement and development. 

Michael Jones is on staff at ADVANCE.




     

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