Opportunities and challenges in translational research

Do you have any experience or heard of any genetic test? If yes, what is it?

We now can find genetic testing services in market through online order and register. People can get their whole genome information within a week. Just simply by mailing saliva samples for the services. However, once we get our own genetic information data, what should we react? Should we take any response to? If the genetic information indicated you will have a chance of getting a disease later on, will you take any preventive treatment? As your medical doctor suggest to you or just put on the side? Before we discuss about this issue, I would like to give you an introduction lecture for the biomarkers and general procedure of how researchers to identify biomarkers in the considerations of using biomarkers for clinical application.

My name is wei-chung “vivian” yang from Taipei Medical University. In the following lecture, we will learn the definition and classifications of biomarker and what would be the concerns for biomarkers in clinical applications from researchers, physicians, and patients point of view.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Molecular genetic test, or gene test, is to study single gene or short length of DNA to identify variations or mutations that may predict a disease condition or lead a theraputic treatment. For example, BRCA-1,2 gene mutations are associated with the risk of getting breast cancer. Chromosome genetic test are to analyze whole chromosomes, or long length of DNA to see if there are large genetic changes such as an extra copy of a chromosome that cause a genetic disorder. Biochemical genetic test is to study the amount or activity levels of proteins.

Abnormality can indicate a normal up or down regulated gene expressions that correlate with a disease condition. Why do we study biomarkers or biosignature? Because we might need a specific biomarker for targeted therapy. The biomarkers may indicate the disease progression and typical clinical condition. In addition, the biomarker may response to an ongoing mechanisms or metabolism that is linked with an abnormal condition. The challenges to identify a useable biomarker is to obtain sufficient clinical information linked with the potential biomarkers for validation and determination of the biomarkers used for. In addition, what messages of the biomarker delivers to and what clinical settings may respond to after the biomarkers is identified should be concerned.

Furthermore, is there a sensitive enough and stable technology to be used for detecting this biomarker is also an issue. May we just by drawing blood or providing urine or saliva body fluids? Or actually it requires biopsy samples for detecting the biomarker are all need to be concerned. How to identify a clinically useful and feasible biomarkers that could benefit to the patients and allowing medical doctor to take appropriate response to diagnosis and treatment should be always kept in mind by researchers for doing biomarker discovery research.

The definition of biomarkers. Biomarker is a biological marker. It is a characteristic which can be measured and evaluated as an indicator of normal or pathogenic process or a pharmacological response to a therapeutic agent. From clinic endpoint, biomarker can be defined as a characteristic or variable that reflects how a patient feels, functions, or survives. For a surrogate end point of view, biomarker can substitute for clinic point. According to the types of biomarkers, they can be classified as DNA based markers. Such as detecting circulating DNA in bloodstream, measuring DNA copy number and DNA methylation, are all belong to DNA based markers. RNA based biomarkers Is to measure overexpressed or underexpressed RNA transcripts or detecting regulatory RNA such as microRNAs.

Protein markers Are mainly by recognizing specific cell surface receptors, tumor antigens, phosphorylation states, carbohydrate determinants, and peptide release from tumors in body fluid. From the clinical application end, biomarkers can be classified as routine biomarkers. Routine biomarkers have been developed as commercial kit or assay available in most of diagnostic labs and usually be approved by the regulation agent. Novel biomarker. Novel biomarkers are defined as non-routine used assays. Usually these biomarkers may be developed as by a research lab and labeled as laboratory developed test. It is generally not have entered standard clinical practice. Many of molecular genetic testing such as cancer associated genetic sequencing services are belonged to these type.

The most attractive translational research for new biomarker discovery is for cancer diagnosis, prognosis, and treatment. The modern cancer biomarkers are expected to be useful on predicting survival for selection of therapy, or selection of efficient therapeutic strategies. Such as surgery followed by chemotherapy or combined with radiotherapy with right dosage. Currently, more and more antibody drugs are developed. These antibody drugs are typically effective on a group of people who bears typically genes or bio signature. Therefore, there are several new cancer biomarkers are used to selection the patient for typical targeting therapy agent. This way may help to avoid patients who do not receive efficient treatment but severe side effect.