Molecular Biomarkers

Molecular Biomarkers are characteristic biological molecules that can be detected and measured in parts of the body, like in blood or tissue. Tests can be developed to determine if specific biomarkers are normal or if they indicate the presence of disease. Biomarkers can be specific types of cells (e.g., CD4 cells in HIV), specific molecules (BCR/ABL p210 transcripts associated with CML), or even genes (FLT3-ITD mutations associated with AML). While biomarker is a fairly new term we have been using biomarkers to diagnose common ailments and not so common ailments for a considerable amount of time. For example, elevated concentrations of the sugar glucose in the blood have long been associated with diabetes. Accordingly, glucose is a biomarker that is monitored in patients so that insulin can be administered correctly. Science has shown that complex organ functions or changes in the biological structures general characteristics can also be considered biomarkers.

Common biomarkers include temperature, blood pressure and cholesterol values. These biomarkers are used to determine sickness and various risks of disease. For example, blood pressure is used to determine the risk of stroke.

Diagnostic and Prognostic Biomarkers

There are many types of biomarkers including disease-related biomarkers, drug-response related biomarkers, diagnostic biomarkers and prognostic biomarkers. Diagnostic biomarkers are used to confirm or support a diagnosis. Prognostic biomarkers (e.g., FLT3 mutation status) are used to determine the prognosis or longterm outlook for a patient when a disease is already diagnosed. FLT3 mutation status in a person diagnosed with leukemia has been show to make a drastic difference in treament and prognosis. Prognostic biomarkers can track how such a disease like leukemia may develop in an individual case. In contrast, drug-response related biomarkers indicate whether a drug will be effective in a specific patient and how the patient's body will process and metabolize the drug.

Validation of New Biomarkers

In the field of molecular medicine scientists are working to validate new biomarkers that can be used to diagnose disease risk, the presence of disease in an individual and to tailor treatments for the disease to achieve the best possible outcome. With molecular diagnostics we can now tailor treatment for leukemia and lymphoma and significantly alter the prospects so that we can achieve the most favorable outcome possible. In a patient suffering from acute myeloid leukemia (AML) one test can make all the difference.

Invivoscribe and its subsidiaries design and manufacture tests and provide the laboratories reagents and support to ensure accurate results.

Which biomarkers are appropriate and useful?

Diagnostic Biomarkers:
IGH Gene Clonality Assay
IGK Gene Clonality Assay
IGL Gene Clonality Assay
TCRB Gene Clonality Assay
TCRD Gene Clonality Assay
TCRG Gene Clonality Assay
BCL1/JH Gene Translocation Assay
BCL2/JH Gene Translocation Assay

Prognostic Biomarkers:
FLT3 Mutation Test
NPM1 Mutation Detection