Tumor profiling, sometimes referred to as genomic profiling, molecular profiling, or biomarker testing, is a laboratory test used to detect gene mutations or other abnormalities that contribute to the tumor’s biology and growth. This information can assist clinicians in developing a treatment strategy that is specific to the tumor profile.

Each patient’s cancer is identified genetically by a unique barcode. Both blood malignancies (like leukemia as well as lymphoma) and solid tumor tumors (like breast as well as colon cancer) can harbor rare mutations. While many individuals may have the same clinical diagnosis, like non-small cell lung cancer (NSCLC) or acute myeloid leukemia (AML), there were also frequently underlying genetic differences in the cancer cells that distinguish one patient’s lung cancer or leukemia from another.

Cancer research, as well as clinical trials, continually develop the disease landscape, allowing for the identification of cancer’s specific biological causes and the initiation of the appropriate treatment for the appropriate patient and this is what has been the main reason why precision medicine exists.

Tumor profiling sometimes referred to as biomarker testing, is a comprehensive and thorough laboratory study of cancer cells. The goal of this testing is to discover particular biomarker mutations and to match them to targeted treatments because tumor profiling, can aid to serve as a guide for you in the determination of the best effective strategy.

Methods of Testing for Tumor Profiling

There are several methods for diagnosing cancer. Using a variety of approaches can be critical for developing a thorough picture of your illness and for exposing malignancy in difficult situations. Your provider may prescribe one or more tests to determine the diagnosis and prognosis of your cancer.

Methods Used in Identifying Cancer

  • Morphology

The blood, bone marrow, or thin slices of tissue under the microscope, and then numerous common stains are used to aid in the differentiation of tissue layers including components of various cell types throughout the sample.

  • Immunohistochemistry (IHC)

IHC screening is a specialized staining procedure that uses the kind of cells as well as their density in the sample to detect cancer cells, cell types, and the stage of the malignancy. A pathologist must have an initial suspicion of the diagnosis in order to formulate successful follow-up inquiries and stain selection.

  • Flow Cytometry

A technique that uses fluorescent indicators and light to examine cells is known as flow cytometry. Whenever cells are viewed in this dilated state, it can aid in the detection of abnormalities and the differentiation of healthy from sick cells. Flow cytometry is frequently used to diagnose blood malignancies, count cells, and identify biomarkers.

  • Fish or Cytogenetics

Fluorescence in situ Hybridization or  FISH, as well as, cytogenetics are used to detect genetic alterations in cells. FISH testing enables doctors to delve deeper into a cell’s genetic makeup, finding anomalies. This in-depth examination can aid in diagnosis, prognosis, and therapy selection.

  • Molecular

Precision medicine is founded on molecular testing. Also referred to as genomic testing, molecular tests can detect genetic variants or mutations that cause your cells to fail and eventually develop cancer. Molecular testing can be used in conjunction with some other laboratory tests to aid in the diagnosis, therapy planning, and monitoring of the effectiveness of treatment.

  • Liquid Biopsy

Liquid biopsy sometimes referred to as fluid biopsy, is the procedure of examining a blood sample which is a non-invasive procedure that may be used for diagnostic and monitoring purposes. Because liquid biopsies are non-invasive, they can be performed more regularly by your clinician if necessary for your illness. Additionally, liquid biopsies can assist your healthcare team in validating the effectiveness of your cancer therapy and detecting early progression.

Who needs to be tested?

Testing is applicable to a broad range of cancer kinds and other conditions. Cancer may be quite debilitating. It is critical that you and your healthcare staff be aware of the benefits and drawbacks of testing, therapy, and any other special goals you may have. Almost all malignancies have known mutations or other information that might aid in treatment decision-making; your care team may explore biomarker screening if you require more information for individualized treatment options.

The Advantages and Disadvantages of Tumor Profiling

By weighing the possible results of the testing might assist you in formulating questions and planning subsequent activities.

Tumor profiling aims to enhance patient treatment by accomplishing any or all of the following:

  • Identify biological defects that are amenable to targeted treatment, which is a medication tailored especially to exploit the weakness against cancer.
  • Discover clinical trials for patients in relation to their profile characteristics.
  • Identify indicators that more accurately characterize the diagnosis, providing the care team with more information on how to manage it.
  • Determine if the case is more or less serious than typical cases.

Anomalies discovered should be beneficial for a minimum of one of the four aforementioned goals. The large bulk of their Profiles have at least a single mutation, as well as the majority, contain many mutations. 

Consider the following disadvantages:

  • There is a possibility that no new or additional plan of action can be established as a result of the test results.
  • Certain preserved tumor specimens are insufficiently large to offer sufficient tissue for testing. This is one of the seldom problems with blood or bone marrow samples, however, they might be destroyed during transportation or storage to the laboratory.
  • Clinical studies may not be offered to all patients or provide all desired outcomes, and they may be located in a remote location.
  • Insurance may not cover the entire cost of the test, as well as patients, may be required to make co-payments, so if that’s the case, there are institutions that can assist you with a variety of financial aid alternatives.

Although testing is complicated, several laboratories have successfully provided high-complexity screening to oncologists including pathologists throughout the United States. These institutes are agile and flexible, rapidly adapting their Profiles to the latest research but also changes in medical recommendations.

A significant benefit to their patients is that such prestigious institutes execute all main diagnostic techniques in-house. They are skilled in a variety of forms of testing and are not constrained in their technique selection for their Profiles. This implies their tests are designed to maximize the value of tiny specimens, to be cost-effective, and to save their customers’ and patients’ valuable time.