‘National Agenda’ seeks to marshal efforts to sharpen the clinical impact of pathology in the genomics era

Pathologists are being urged to seize the high ground as the unfolding revolutions in genomics and bioinformatics create unprecedented capabilities to more accurately diagnose patients and guide the selection of appropriate therapies.

Two experts in these fields have come together to issue a call to action for the pathology profession, stating that pathologists need to be prepared for the sequencing revolution. “Revolution is not too strong a word; this is not incremental change,” declared Dennis P. Wall, Ph.D. and Peter J. Tonellato, Ph.D., in a recent story published in The Scientist. “The use of whole-genome analysis (WGA) can, should, and will replace many current standard pathology practices of diagnosis and prognosis on which proper therapy and disease management rely,” the co-authors asserted.

Wall is an associate professor and director of Computational Biology at Harvard Medical School (HMS). Tonellato is a professor and director of the Laboratory for Personalized Medicine at HMS.

Cold Spring Harbor Pathology Summit Outlined National Agenda

In the fall of 2010, Tonellato participated in a pathology summit held in Cold Spring Harbor, New York. Attendees included representatives and thought leaders from major national pathology organizations, as well as other stakeholders. Their aim was to lay the groundwork for a national agenda for the future of pathology in personalized medicine.


Two professors at Harvard Medical School, are among the voices calling for pathologists to initiate steps to transition the practice to meet the paradigm-shifting demands of next-generation sequencing and personalized medicine. Dennis P. Wall, Ph.D. (pictured above) and Peter J. Tonellato, Ph.D., along with their colleagues at Beth Israel Deaconess Medical Center are promoting a “national agenda” that seeks to lay out the fundamental steps for moving pathology into the rapidly evolving genomics era. Wall is an associate professor and director of Computational Biology at Harvard Medical School (HMS). Tonellato is a professor and director of the Laboratory for Personalized Medicine at HMS. (Photo by Boston Children’s Hospital.)

Subsequently, Tonellato coauthored a report titled “A Call to Action: Training Pathology Residents in Genomics and Personalized Medicine,” published in the American Journal of Clinical Pathology (AJCP). It set forth a call to action to transform the nature and practice of pathology in the genome era.

Time for Pathology to Align with Technology of Modern Human Genomics

Like all revolutions, the sequencing revolution carries both threat to the status quo and opportunity to the forward-thinking. “With the advent of [next-generation sequencing] and WGA, the pathology community has a golden opportunity to seize the initiative,” wrote Tonellato in a special article published in the AJCP, titled “A National Agenda for the Future of Pathology in Personalized Medicine” (National Agenda special article).

Tonellato and his co-authors urged pathologists to capture the value of genome technologies in order to produce and use genetic data and information. These technologies, they stated, are key to the profession’s ability to lead the field in precision diagnosis and individualized predictive care.

Pathologists Recognize Barriers to Innovation in Lab Testing

Pathologists and clinical laboratory managers are familiar with perennial barriers to the discipline’s adoption of innovative technologies and processes. “The rate of uptake of new technologies by the field of pathology has traditionally been slow, resulting in delayed advancements,” observed Wall and Tonellato in The Scientist.

Importantly, the National Agenda special article coauthors pointed out that, to date, no single medical discipline has positioned itself to lead the rapidly developing personalized medicine and genomics testing field at a national level. They noted that other medical specialties and private interests are challenging pathology’s traditional role as laboratory physicians.

Establishing Pathology’s Primary Place in Emerging Field

According to the authors, if pathology is to establish a primary place in the field, pathologists must acquire and demonstrate expertise in the rapidly evolving field of genomics-based personalized medicine.

“This is pathology’s time to seize the opportunity and march in step with the technological innovations of modern human genomics,” wrote Wall and Tonellato in The Scientist. To do that, they said, pathologists and others must address certain key areas. These include:

  • defining guidelines for when genetic variants are clinically actionable;
  • designing a clinical interpretation system to generate medical impact reports from sequencing data and WGA; and,
  • establishing national education programs capable of training “a new breed of genomic pathologist.”

The message is clear. For individual pathologists to survive and thrive in the era of genomic medicine, it is up to the pathology profession to heed the call to recast the discipline from its traditional roles into the new clinical opportunities that are opening up as a result of molecular and genetic knowledge.

—Pamela Scherer McLeod

Related Information:

The future of genomics in pathology

Genomics-Informed Pathology: Twenty-first century lab reports will include test results read by a new breed of pathologist

A Call to Action: Training Pathology Residents in Genomics and Personalized Medicine

A National Agenda for the future of pathology in Personalized Medicine—Report of the Proceedings of a Meeting at the Banbury Conference Center on Genome-Era Pathology, Precision Diagnostics, and Preemptive Care: A Stakeholder Summit

Pathologist, Train Thyself (in Genomics)!