Case-matched normal control samples from a tumor patient might be unavailable.

A normal specimen is needed as a source of a reference genome in tumor patients in for correct identification of tumor-specific mutations. Depending on the disease, the diagnostic or therapeutic procedure that produced the specimen, or the tissue remaining in a case after diagnostic analysis, it may not be possible to meet this requirement.

The clinical data associated with specimens may be inadequate, inaccurate, or nonstandardized.

Even if biospecimens are of sufficient quantity and quality for a particular molecular analysis, their value for translational research may be severely limited by the amount, type, and quality of clinical data that are available for an individual case and by the consistency of the data on the many cases that may be required for a study. Clinical data provide the essential functional or biologic behavioral correlations that define the medical relevance of the molecular data. The lack of relevant clinical data elements limits the value of the molecular analysis data for prediction and the conclusions that can be drawn.

The type and amount of clinical data provided by the physician requesting consultation was not prescribed in a standardized fashion by the JPC repository. Furthermore, it did not require that any clinical data submitted adhere to a standardized format.4 Thus, clinical data associated with cases varies widely in quality, quantity, and consistency, which may create important limitations in the utility of the JPC biospecimens for research studies.

In some cases, it may be possible to acquire missing clinical data from the medical record in the institution in which the referred case originated. For some institutions, such as those within the Department of Veterans Affairs health system or the Department of Defense and many private institutions, the acquisition of additional data elements for a case may be technically facilitated by using an electronic medical record (EMR). Nevertheless, additional technical hurdles—such as the difficulty in combining data from an EMR with the JPC’s information technology and the unreliability or unavailability of identifiers that would allow data from disparate sources to be combined—may limit the ease with which the data can be transferred or may preclude electronic transfer altogether. Acquiring or transferring additional data by nonelectronic means is labor-intensive, is expensive, and adds a risk of introducing errors. However, given the number of hospital mergers and closings in recent years, it may not be easy to trace a patient

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4The Contributor’s Consultation Request Form used in recent years does require that some standardized information be submitted. The most recent version of the form is reproduced in Appendix B.



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