The Promise Of
Molecular Diagnostics - page 2

A multidisciplinary approach is needed

Most clinicians have neither the training nor the time to assess the clinical significance of variants that have been identified in their patients.

For this reason, molecular diagnostic laboratories typically employ genetic professionals who interpret test results and produce a text report describing the significance of any genetic variants identified.

The process of generating this report can be time-consuming and expensive, so streamlining and automating portions of the process through computers (bioinformatics) can be valuable. Bioinformatics can also help standardize result reporting by reducing variability between the ways different geneticists might interpret the same result.

When test results are sent to the electronic medical record (EMR), it is useful to capture interpretations in structured form in addition to the genetic variants themselves. Capturing structured interpretations requires bioinformatics support during report generation.

Image courtesy of Health & Human Services.gov news

CISN Summary

Molecular diagnostics are becoming important tools for cancer detection and subtyping. This expansion into pharmacogenomics and therapy decision will have major implications for both industry and patients.

New technologies will have to deliver greater sensitivity, faster turnaround, and smaller platforms (testing machines), if they are to become part of disease treatment monitoring as well as diagnostics.

If this can be achieved, it will also open the door to move from the dedicated diagnostics laboratory to the physician's office.

Molecular diagnostics are particularly applicable to:

• The early detection of cancer,
• Optimizing drug therapy by better defining a patient's need,
• Predicting clinical outcome from a specific drug, and
• Determining metastatic potential.

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