Regulatory Research Perspectives Journal

"Defining Normal and Pathological Levels of Tumor-Associated Mutations" by Dr. Barbara L. Parsons et al
"A Newly Emerged Field of Epigenetics Opens New Horizons" by Drs. Igor Koturbash and Igor Pogribny

Personalized medicine can be described as the systematic use of a patient’s medical and biological information to specifically tailor medical treatments to the individual and their disease. The push for personalized medicine is highly dependent upon the development of new diagnostic molecular assays and the ability to identify specific disease biomarkers. The two articles in the current issue deal with each of these factors.

The first article describes the use of allele-specific competitive blocker PCR (ACB-PCR) to detect and quantify mutations in the K-RAS gene, which has been shown to have prognostic significance and is important in the etiology of colon cancer. ACB-PCR is highly sensitive and can detect a single mutant allele in a 100,000-fold excess of wild-type allele. This report presents the raw ACB-PCR data of two K-RAS mutations from normal and disease tissue. This information is valuable to establish the variability between individuals necessary to effectively use somatic mutations as quantitative biomarkers of cancer risk.

The second article highlights the potential for using epigenetic effects as biomarkers of various pathological states. Epigenetics refers to the heritable changes in gene expression associated with modifications of DNA or chromatin proteins without alteration of the primary DNA sequence. These modifications are essential for normal development and maintenance of cellular functions. However, these modification schedules can become dysregulated and lead to the development of a wide-range of human pathologies. Thus, epigenetic processes may provide a set of specific biomarkers that would aid in the early detection of many diseases.

In summary, the development of diagnostic assays and the identification of specific biomarkers are two critical elements in personalized medicine. This issue highlights just two examples of the research being done at NCTR that will be critical for advancing personalized medicine through the 21st century.

The Regulatory Research Perspectives journal provides a vehicle for FDA scientists to communicate important scientific information with the hope of generating collaborations and to communicate to the global community about science that is important to the FDA.

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