|Stanley J. Robboy, MD
Stanley J. Robboy, MD
Eric Topol, MD, director of the Scripps Translational Science Institute, chief academic officer for Scripps Health, and editor-in-chief of Medscape, will present at the CAP ’13 Spotlight Reception in October. We (CAP CEO Charles Roussel; Nazneen Aziz, PhD, director of molecular medicine and staff lead for the CAP Next Generation Sequencing Working Group; and I) invited Dr. Topol to speak after we met with him to talk about our interest in genomic medicine and the steps we have taken—through the Transformation Program Office, CAP Learning, and the Laboratory Accreditation Program—to spearhead efforts to fully integrate cutting-edge genomics into pathology practice.
While exome and multigene panel sequencing are increasingly common, Dr. Topol promotes widespread implementation of whole genome sequencing. He makes the call in well-intended but provocative ways that we felt underscored the need for what we might call “next-generation communication” across specialties. Without question, he will make a compelling presentation at CAP ’13, one we will talk about over lunch, in the exhibit hall, and over time via CAPconnect.
Dr. Topol believes that what he calls the digital revolution—everything from direct-to-consumer WGS to portable scanners and the use of social networking tools by patient advocacy groups—is the engine that will drive a grassroots movement to empower patients to be assertive participants in decisions related to their care. One result, he says, will be increased demand for access to WGS for selected patients (such as those with a cancer recurrence or an unknown and life-threatening condition for whom it offers a clear benefit) at the community hospital level, whether on site or via rapid-turnaround outsourcing. This, in turn, will create accelerated demand for genetic counseling at a time when genetic counselors are in short supply. If he is correct, this will present challenges and opportunities for busy pathologists. (But make no mistake, genetics is in our sandbox.)
Next-generation sequencing analysis is enabling us to see that tumors are far more heterogeneous than we had thought. Soon, surgeons may be taking four or five biopsies from different parts of a tumor. In clinical trials, second or even third NGS studies could become routine. I think this is what George W. Sledge Jr., MD, a former American Society for Clinical Oncology president, was referring to in March when he told attendees at the 30th Annual Miami Breast Conference that we would soon need a “next-generation clinical trials system.”
In research and clinical settings, genomic medicine will encourage new partnerships. Next-generation communication will enable us to collaborate with our colleagues on policy development regarding the optimal size and number of specimens to be taken, the circumstances that call for WGS versus exome sequencing, and when (or whether) fresh-frozen specimens could be preferable to formalin-fixed paraffin-embedded specimens.
New knowledge creates new possibilities. For example, a study published by Dawson, et al., in the March 28 issue of the New England Journal of Medicine supports the efficacy of circulating tumor DNA in plasma as a biomarker to monitor breast cancer patients for metastases. Who knows where this will go? What we do know is that we will be there, making use of the best new knowledge to collaborate with our colleagues in oncology, surgery, and radiology to bring more patients more years of productive life.
As technologies evolve and specialists collaborate to define best practices, experts from pathology will lead the way. For example, James A. Robb, MD, a SAIC-Frederick consulting pathologist to the National Cancer Institute and a member of the CAP Diagnostic Intelligence and Health Information Technology Committee, who is highly respected in the biobanking field, says we must first focus on what only pathologists can do: creating a reliable process for collecting and processing high-quality biospecimens. He also reminds us that patients must understand what is authorized when they give consent for precision medicine procedures. We must start at the beginning, he says, working with oncologists, surgeons, ethicists, and others on our institutional review boards, who will be involved in drafting patient consent forms.
Dr. Robb predicts that we will come to see a transformation of the anatomic laboratory. As our knowledge grows, he says, every specimen will become a high-priority biospecimen, subject to a quality process that ensures preservation within an hour, a concept that has been field-tested in community pathology laboratories using cancer specimens. And, he adds, we must be prepared to interpret genomic tests accurately, report results clearly, and ensure that our colleagues understand the clinical significance of the results.
Pathologists are the fundamental custodians of tissue, and ensuring biospecimen quality is our prerogative and our responsibility. As discoveries continue, we will have much to learn, which drives our commitment to outstanding continuing medical education, and why every member should attend our annual meeting.
If you have not yet registered for CAP ’13, please visit www.cap.org/cap13 today. If this is your first CAP meeting, prepare to be amazed. If you have attended before, then you know that the CAP meeting will make you wish, as Dr. Robb likes to say, that you could be 30 again.
Dr. Robboy welcomes communication from CAP members. Send your letters to him at email@example.com.