By: Niraj Vyas, MBS, Medical Student, Geisinger Commonwealth School of Medicine & Renee Frank, MD, Associate Pathologist, Geisinger Health System
What is pathology?
Pathology is the study of disease and as a medical specialty, is involved in all aspects of patient care, including diagnosis, treatment, and prevention. The pathology and laboratory medicine department consists of pathologists (medical doctors/physicians who have specialty training in lab medicine) and biomedical scientists (professionals with advanced degrees and clinical training). As a patient, you may not see these individuals, but your physicians rely on pathologists for guidance about the nature and severity of your condition. This process ensures you will get the most appropriate treatment. For example, if you have a biopsy performed, a surgical pathologist will use a microscope to view the removed tissue on a glass slide and make a diagnosis. When you have blood drawn, it goes to a laboratory managed by a pathologist, and it may even be viewed on a slide by a hematopathologist (a pathologist who specializes in blood disorders). Locally, medical microbiologists at Geisinger Medical Center were one of the first in the country to develop COVID testing. Currently, there is an emerging sub-specialty in pathology that is revolutionizing patient care: molecular pathology.
What is molecular pathology?
Molecular pathology is the study of disease at the molecular level. The field applies classical and novel techniques based in cell biology, molecular biology, genetics, and biochemistry. Molecular pathologists analyze DNA and other genetic material in tissue, organs, and bodily fluids to help diagnose and monitor disease. This field is becoming more popular due to rapid advancements in molecular technology allowing the testing to be faster and cheaper and due to the influence this testing has on patient care. Molecular testing can be used to test for inherited genetic conditions like cystic fibrosis or hereditary cancer syndromes. This testing can also be used in the medical microbiology lab to identify infectious organisms Precision or “personalized” medicine relies on molecular pathology to look at each patient’s tumor for mutations or genetic changes. This information guides oncologists to determine a targeted therapy for a patient. Using new technologies, such as next generation sequencing or polymerase chain reactions (PCR), molecular pathologists can get rapid results to you and your doctors. To share expertise and best use resources – molecular pathology has become a digital field allowing data to be accessed securely by molecular pathology specialists involved in your care.
Changes in patient care
These new innovations in patient care have benefited many – especially in cancer care. In recent years we have shifted away from standard chemotherapy in favor of molecular profiling of tumors to use more targeted therapies. This so-called “quiet revolution” in cancer treatment spares some patients from the dreaded side effects of chemotherapy, such as hair loss, nausea, fatigue, and damage to nerves. This change has even been seen in how drugs are created and used; over half of the ten best-selling drugs in the United States are targeted biological molecules and nearly 75% of all cancer drugs are tailored to a person’s tumor genetic profile.
For example, a person with melanoma may have molecular testing performed and the tumor may be found to have a BRAF V600E mutation. Oncologists (cancer specialists) can use this information and use specific therapies, such as dabrafenib, trametinib, and vemurafenib, to target this unique marker on the melanoma cells. Similarly, we can use trastuzumab for treatment of HER2 breast cancer instead of the previous chemotherapy cocktail that was recommended 30 years ago. These targeted therapies have shown survival benefits: before 2010, advanced lung cancer had a five-year survival rate of about 5% but has climbed to almost 30% with new mutation targeted therapies. Molecular pathology is just one of many advancements in patient care; it is constantly evolving and improving. Pathologists continue to innovate and push the limits of high-quality health care, even at a level we cannot see.
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