Clinical Labs and Whole Human Gene Sequencing

CLINICAL LABORATORY ADMINISTRATORS AND SENIOR EXECUTIVES would be well advised to pay close attention to our lead story about the whole human genome sequence collaboration just announced by the pathology department at Beth Israel Deaconess Medical Center (BIDMC) and GenomeQuest, Inc. (See pages 3-6.)

Together, the two organizations intend to be among the first in the nation to take the latest technologies in rapid gene sequencing and multi-gene analysis and develop laboratory assays for cancer and other diseases. Although the initial emphasis will be oncology—the traditional bastion of anatomic pathologists—I can foresee how pathologists at BIDMC are likely to quickly cross over into the domain of the clinical laboratory.

Until the past decade, the division between clinical pathology (CP) and anatomic pathology (AP) has been rather clear and distinct. The research and development work about to unfold at Beth Israel Deaconess Medical Center has the potential to muddy those distinctions. In fact, BIDMC’s Pathology Chair, Jeffrey Saffitz, M.D., Ph.D., now envisions a “primary-care pathologist” who will use information in the whole human genome to make sophisticated diagnoses in ways unimagined until recently.

Reflecting on Saffitz’ reasons why this is likely to become feasible, I can fore- see that the primary-care pathologist will work in the clinical laboratory and use such technologies as rapid gene sequencing and multi-gene analysis to provide referring clinicians with very early and very sensitive diagnostic information.

If you agree with Saffitz that whole human genome sequencing can, at some future point, give pathologists a sophisticated and highly-accurate ability to predict disease, to diagnose disease, and to precisely guide therapeutic decisions, then it is reasonable to assume that this activity will take place in the clinical laboratory in preference to the anatomic pathology laboratory.

That is why, for my money, the BIDMC/GenomeQuest collaboration needs to be watched because it is a credible effort by very smart physicians and scientists to understand the information contained in a whole human genome sequence and convert that to actionable diagnostic, therapeutic, and predictive knowledge that directly benefits a patient. As this happens, I believe it is clinical laboratories which will take the lead role in providing these type of tests to the nation’s office-based physicians.


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