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Embracing High-Impact Applications of Molecular Diagnostics

Efficient, cost-effective uses continue to emerge

Karen L. Kaul, MD, PhD, FCAP
Karen L. Kaul, MD, PhD, FCAP

Molecular diagnostics in the laboratory are the basis for personalized medicine, which uses genomic information to enable faster, more accurate, and more detailed answers than many traditional diagnostic methods—and to provide better patient care. Molecular methods can be used to identify infectious agents and diagnose infectious disease. They are key factors in diagnosis and workup of cancers and are also fundamental aids to diagnosis and screening for genetic disorders. Personalized medicine continues to enhance the volume and value of information that pathologists can provide, and the only safe prediction about the pace with which potential applications emerge, including those in pharmacogenomics and disease risk prediction, is that it shows no sign of decline.

As Karen L. Kaul, MD, PhD, FCAP, who chairs the Department of Pathology and Laboratory Medicine at NorthShore University HealthSystem (NorthShore) in Evanston, Illinois, points out, molecular diagnostics have evolved quickly over the past two-to-three decades. Her institution, comprising four hospitals, 800 beds, and more than 130 multispecialty physician group offices, is a proverbial petri dish for new methods and potential uses for personalized medicine. Laboratory teams at NorthShore conduct more than 6 million clinical tests and 100,000 molecular assays each year.

Molecular Diagnostics for Screening—Fast, Accurate, and Cost Effective

Molecular testing has developed so rapidly, Dr. Kaul says, because it provides information not available any other way using methods that are better, faster, or cheaper than the alternatives. While patients may associate precision medicine with expensive targeted therapies in oncology, it has been shown to be a versatile source of unexpected economies. In the context of infectious disease, for example, results from molecular tests for some organisms can be reported out more rapidly than by waiting for a specimen to grow in culture, and they may provide information on antimicrobial resistance or carriage of a potential nosocomial microbe as well. In short, molecular diagnostics have had a reputation for high cost that was greatly exaggerated. 

“With mycobacteria, for example, we can wait for someone with a smear-positive sample to grow TB or another mycobacterium in culture, which can take a month or two,” Dr. Kaul says, “or we can use a molecular method and have an answer in a few hours. This information will impact who needs to be in isolation, who doesn’t, who needs to be treated with what, and whether or not it’s TB—all within a day. So why wait?”

Dr. Kaul is the past president of the American Board of Pathology, a past president of the Association for Molecular Pathology, and former editor-in-chief of the Journal of Molecular Diagnostics. Board certified in anatomic and molecular genetic pathology, she founded the Molecular Diagnostics Laboratory at NorthShore in 1992. NorthShore is a not-for-profit teaching institution and the principle teaching affiliate for the University of Chicago Pritzker School of Medicine, where Dr. Kaul is a clinical professor of pathology and holds the Duckworth Family Chair.

The leadership at NorthShore is open to financially responsible innovations that enhance the quality and safety of care their patients receive, and the laboratory team is good with that. NorthShore’s was the first clinical laboratory in North America to implement a total laboratory automation system in microbiology, an innovation that reduced cost and provided more rapid results. Dr. Kaul’s laboratory team introduced rapid point-of-care polymerase chain reaction testing (or PCR) for influenza in clinic, improving use of antiviral and antimicrobial agents and providing much-appreciated rapid answers to clinicians and patients. The NorthShore environment encourages what is prudent; the team is not risk averse.

And Then There Was MRSA

In 2005, NorthShore launched a major offensive against one of the most worrisome antibiotic-resistant infections in its patient population: methicillin-resistant Staphylococcus aureus (MRSA). Dr. Kaul’s colleague and director of the clinical microbiology and infectious diseases research division, Lance R. Peterson, MD, FASCP, took the lead. Under his protocol (based upon convincing pilot data collected at NorthShore) every patient coming into the hospital was screened for MRSA via nasal swab and PCR.

Less than two years in, institution-wide compliance with admission testing was more than 90%, and MRSA infection rates were down 70%. There were laboratory costs for the testing, Dr. Kaul says, but today NorthShore has virtually eliminated MRSA-related morbidity and mortality, saving many lives and millions of dollars of unreimbursed care each year. “By screening, detecting, and decontaminating carriers, you reduce nosocomial spread and the postsurgical infections,” Dr. Kaul explains. “That’s where the safety and savings are for the hospital.”


Molecular diagnostics and targeted therapies enable hospital-based laboratories to provide high-impact patient care services that protect and promote the quality and safety of patient care in sustainable ways. Although hospital budgets formerly viewed laboratories as cost centers, technological advancements have changed that. The laboratory is now a key player in a hospital’s mission, innovating to improve community health and contain the cost burden of challenges emanating from outside the laboratory. This type of leadership from the laboratory, while not uncommon, can run beneath the radar. When that is the case, some consciousness-raising may be appropriate. As Dr. Kaul puts it, “We need to remind our administration—and increasingly now, our third-party payers—about what we do to improve the health of the patients we care for.”

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