Clinical laboratories and pathologists play important roles in these efforts to collect, store, and analyze DNA.


Increasingly, pathologists and clinical laboratories are playing a role in genetic research and biobanking by providing specimens. One credible example of this expanding trend is found at The Mayo Clinic, in Rochester, Minnesota. Its biobank wants to gather genetic material from 20,000 participants.

The biobank has already collected specimens from more than 8,300 patients who come from Minnesota, Iowa, Wisconsin, the Dakotas, and other states. Mayo researchers are analyzing this genetic material to support research projects on heart disease, leukemia and cancers of the breast, the colon, and the lungs.

This effort is of interest to clinical laboratory managers and pathologists because it demonstrates how biobanking is evolving into a more sophisticated, even interactive endeavor that connects researchers with the sources of the specimens. At Mayo, pathologists and researchers are interacting with patients in ways that were not previously possible. Mayo’s biobank venture has a Community Advisory Board (CAB), for example, to ensure that the voice of the community is heard in the development of the biobank’s policies.

Mayo researchers are analyzing this genetic material to support research projects on heart disease, leukemia and cancers of the breast, the colon, and the lungs.

Mayo researchers are analyzing this genetic material to support research projects on heart disease, leukemia and cancers of the breast, the colon, and the lungs.

Community engagement is based on the assumption that citizens can (and must) play a role in the governance of research, offering suggestions and ongoing advice,” Mayo said. “The CAB helps decide who [which researchers] may use the biobank.” The CAB also will consider whether Mayo should include children in the biobank, re-contact participants for more information, share research data with other institutions, and return any genetic results to biobank participants.

In a recent report , Mayo said it had enrolled 8,365 patients, and 58% (4,876) were female, and 42% (3,489) were male. Just under half (4,100) were from Olmstead County, home of the Mayo Clinic in Rochester, Minnesota; 1,502 were from South East Minnesota; 1,180 were from other parts of the state. In addition, the biobank has enrolled 331 participants from Wisconsin, 75 from the Dakotas, and 695 from other states. The age of participants ranged from 18 years old to more than 81. Interestingly, the three largest groups of patients were those 51 to 60 (1,754), 61 to 70 (2,203), and 71 to 80 (1,971). (See the report’s charts: “Demographics of Participants” and “Age of Participants”.) Recruitment began in April 2009 and is expected to continue until 2012.

Mayo researchers have already used the samples and data for projects on cancer and heart disease. Other research projects target hypertension and the presence of microvesicles in blood. For the breast cancer study, researchers are analyzing genetic risk factors for the disease by comparing samples from participants without a history of breast cancer to samples from those who have had breast cancer (and were recruited separately).

Similarly, researchers involved in the cardiovascular study will compare samples from 200 biobank participants without a history of heart attack to those of patients who have had a heart attack and who were recruited through a separate study. The researchers will look at proteins found in the blood for clues that may be useful to predict which heart attack patients may be at increased risk.

For patients with chronic lymphocytic leukemia (CLL) researchers will study samples from 500 Biobank participants without a history of CLL to compare to patients who have had CLL and who were recruited separately. The researchers will seek to confirm subtle changes in DNA that may prove to be risk factors for developing CLL.

For a study involving colon cancer, researchers will compare samples from 500 biobank participants without a history of cancer to those of patients who have had colon cancer and who were recruited separately. The researchers will study whether the length of the telomere at the end of the chromosomes are correlated to colon cancer risk.

Because biobanks need sources of specimens, clinical laboratories and anatomic pathology groups are in a natural position to identify patients whose specimens would be useful for genetic analysis. Medical labs and pathology groups would find it relatively easy to obtain informed consent from these patients and collect both the specimen and the relevant medical history.

One issue that would motivate clinical laboratories and pathology groups to more actively support biobank specimen collection efforts would be reimbursement for these services. At this time, there is no established fee structure for such activity. That is one reason why some of the larger biobanking efforts are being conducted within integrated health systems such as the Mayo Clinic.

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