Q. Is it necessary to have a control if body fluids are counted on a hemocytometer and cytospin smear is performed?
A. CAP hematology-coagulation checklist question HEM.33330 was revised to include body fluids in the requirement for a control procedure to ensure the accuracy of the hemocytometer counts to comply with an interpretation of current federal regulations. Performing a hemocytometer count on a control material each shift that hemocytometer counts are performed would be one way of meeting this requirement. However, the CAP Hematology/Clinical Microscopy Resource Committee favored laboratories developing a program of correlating the findings on the cytocentrifuge smear with the results of the hemocytometer count, much in the same manner that hemocytometer platelet counts are correlated with platelet estimates on a blood smear. Validating a method to make the count to cytocentrifuge smear correlation and then documenting this correlation in each case would provide “control” of each body fluid count rather than a confirmation of a given determination of control material.
Robert Novak, MD
Department of Pathology
Medical Center of Akron
Immediate past chair,
CAP Hematology/Clinical Microscopy
Q. What is the role of the clinical laboratory in personalized health care in the next five years?
The concept of personalized health care, or care provided to an individual based on the knowledge of that individual’s family and medical history, disease, and diagnostic testing, has been evolving for years. Newborn screening for the metabolic disorder phenylketonuria began in the 1960s. What’s more personal than a karyotype of one’s chromosomes? G-banded chromosome analysis has been offered since the early 1970s. One of the first forays into molecular medicine in the 1980s was the detection of an alteration of a restriction enzyme site caused by a point mutation in the hemoglobin beta chain gene and a phenotype of sickle cell anemia.1
However, only recently, with the publication in 2007 of the U.S. Department of Health and Human Services document, “Personalized Health Care: Opportunities, Pathways, Resources,”2 endorsed by then HHS secretary Michael Leavitt, did the concept take form and evolve to the level of federal directives to encourage the translation of scientific knowledge into clinical practice and widespread adoption of the electronic health record. In the document’s foreword, Leavitt wrote that only with the proliferation of molecular and gene-based diagnostics combined with health care information technology could personalized health care, a new kind of medical care, become a reality for Americans.
In my mind, it was the Human Genome Project, completed in 2002, that launched the concept of personalized medicine. In effect, the genome and its products (the proteome and metabolome) can be viewed as a set of tools that enable physicians to understand the biological and disease variability of their patients. Understanding the variability among individuals allows for a targeted or personalized health care approach based on genetic differences, replacing a “one size fits all” health care model.
The identification of chemical and molecular biomarkers of disease has led to the development and delivery of tests that promote a more precise disease diagnosis and may even predict risk of disease in advance of disease symptoms. Appli-cation of biomarker discovery has led to the development of drugs that target disease mechanisms. For example, imatinib (Gleevec) interrupts the tyrosine kinase signaling pathway of the BCR/ABL fusion protein in chronic myeloid leukemia. Trastuzumab (Herceptin) is given to women who have invasive breast cancer and when there is evidence of HER2 amplification. Genetic testing for the inherited breast and ovarian cancer genes, BRCA1 and BRCA2, can establish the risk of breast and ovarian cancer in healthy women.
Yet diagnostic testing is only part of the personalized health care story. Personalized medicine will be fully realized only in an environment where acces-sible and integrative information technology, specifically the electronic health record and personal health record, is available. Medical information must be accessible to patients and their health care team. In Indianapolis we are fortunate to partner with the Indiana Health Information Exchange,3 which provides patients’ records and test results via computers to hospitals and physicians in central Indiana. Thus, if a patient is seen routinely at one facility but admitted to another for an emergency, the emergency physician has the patient’s medical, laboratory, and medication records to inform the diagnosis and treatment of the patient’s problem. On the horizon are portable, personalized health records fashioned much like credit cards. Health information is stored on an easy-to-carry device that can be updated frequently. Using the preceding example, if the patient travels out of state and is treated for an emergent situation, his or her personal health record can provide the treating physician with the patient’s current medical information.
The CAP already has major initiatives addressing personalized medicine and health information technology, with the Diagnostic Intelligence and Health Information Technology Committee (DIHIT), SNOMED CT, and a newly established committee of the Board of Governors on Personalized Health Care (PHC). The DIHIT is defining the informatics vision and the education, tools, and underlying infrastructure necessary for pathologists to practice diagnostic medicine, including personalized health care, in the future. The PHC plays a steering role for the CAP’s personalized health care vision, prioritizing key initiatives and activities related to the vision and ensuring that those initiatives are assigned to the relevant council, committee, or staff functions. The PHC plays a critical role in coordinating and communicating the CAP’s personalized health care vision and in defining the pathway necessary to achieve the CAP’s objectives.
So, to answer the question, “What is the role of the clinical laboratory in personalized health care in the next five years?” I would say the clinical laboratory should be prepared to expand diagnostics in response to new and emerging scientific information. The lab should have in place a standard operating procedure for new test development, which at minimum includes procedures for analytic and clinical validation of the test method and internal review of the validation process. The SOP should also include informing the lab accreditor of the expanded test menu, enrolling in appropriate proficiency testing, and providing ordering physicians with the information they need to select the appropriate tests. Most important, the laboratory director should move outside the laboratory and into the milieu of his or her clinical colleagues. Attend lectures, grand rounds, ward rounds, and clinicsany setting where there is a dialogue about patient care and health care information delivery systems. Personalized health care is not the province of one specialty. The success of health care today and in the next five years requires an integrative approach.
- Kan YW, Dozy AM. Polymorphism of DNA sequence adjacent to human-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci USA. 1978;75:5631–5635.
- U.S. Department of Health and Human Services. Personalized Health Care: Opportunities, Pathways, Resources. www.hhs.gov/myhealthcare. Published September 2007.
- Indiana Health Information Exchange. www.ihie.com.
Gail H. Vance, MD
Professor and Director
Cytogenetic Division and Laboratories
Professor, Pathology and Laboratory Medicine
Indiana University Medical School
Member, CAP Council on Scientific Affairs
Dr. Kiechle is medical director of clinical pathology, Memorial Healthcare, Hollywood, Fla.