• Michael Misialek, MD

Pathology plays a central role in the era of personalized medicine


As a pathologist, I recognize the importance of every diagnosis. Behind each slide is a patient, a family, a network of family and friends. A string of dominoes that is set into motion with my diagnosis. All treatment begins with a diagnosis. Each day I make these diagnoses, but on holidays, it takes on even more meaning. As the rest of the world is celebrating the season, coming together, medicine does not stop. Specimens continue to be dropped off, test tubes of blood flow through the lab instruments; lab results come out guiding the treatment of both inpatients and outpatients.

On New Year’s Eve, five separate oncologists contacted me about cases.

  • Two new lymphoma diagnoses in young patients.

  • A microscopic finding in a lung cancer patient that would determine whether the patient would get chemotherapy or not.

  • A bone marrow in a patient in whom myeloma is being considered.

  • A possible pancreatic cancer.

I thought about what these diagnoses mean. New Year’s is the perfect time to reflect on the past, the current state and the future of cancer research and treatment. A look back to advances in 2014 from right here in Boston where pathologists and oncologists made great strides:

An important step towards personalized medicine is the establishment of a repository of patient samples. The Partners Healthcare Biobank is one such example. Patients at Partners hospitals are asked to donate a blood sample and fill out a questionnaire. By studying genetics and lifestyle, important insight is being gained in health and disease.

Pathologists, oncologists and other researchers at Brigham and Women’s Hospital and Dana Farber have developed a rapid test that screens patients with blood cancers providing important information on prognosis and treatment choice.

Another initiative underway at Dana Farber and Brigham and Women’s Hospital is the Profile project. Here scientists are profiling every patient’s cancer to look for mutations that have the possibility to be exploited for treatment.

All of this research is aimed at identifying biomarkers for disease and involves a powerful gene sequencing technology that has transformed the world of cancer research and care. Traditionally, decoding or sequencing genes was a tedious process in which each of the 3 billion base pairs making up DNA was “read” one at time. Now, using “next generation sequencing” hundreds of thousands of base pairs are read simultaneously. These reads are then reassembled into complete genes, like piecing together a jigsaw puzzle. Results are available in less than a week, in contrast to months or even years using older technology. Pathology plays a central role in this era of personalized medicine.

This past year also brought advances in multiple myeloma. Researchers from Massachusetts General Hospital reported at the 2014 American Society of Hematology conference on new ways to treat early myeloma. At the 2014 San Antonio Breast Cancer Symposium researchers from Dana Farber delivered hopeful studies for young patients with breast cancer.

Oncologists and pathologists have a long history of collaboration. Among these are development of guidelines regarding breast cancer biomarker reporting and lung cancer molecular testing.Most recently, there will be a cooperative effort in the creation of molecular tumor board. In this age of personalized medicine, the need is now greater than ever to work together. In order to ensure safe, high-quality, cost-effective care, such partnerships are vital.

Meanwhile back in the lab, the hospital keeps moving. Specimens arrive and the diagnoses will continue. There is a team working behind each of these slides, each and every day. In an instant those age old resolutions seem insignificant in the face of these diagnoses. So keep in mind all those suffering as you work on fulfilling your resolutions. 2015 promises to bring even more exciting news. I am hoping to do my part.

Article originally appeared on KevinMD


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