Genomic landscape of cell-free DNA in patients with colorectal cancer article published in Cancer Discovery journal highlights how liquid biopsy techniques, which apply genomic sequencing of circulating DNA isolated from a small vial of blood, can effectively detect cellular mutations in colorectal cancer (CRC) patients.

The study represents one of the largest-scale research projects comparing genomic profiling of cfDNA versus direct tumour sequencing. For the study, cell-free DNA (cfDNA) was collected via liquid biopsies from 1,397 CRC patients and the genomic information was compared to three independent tissue-based sequencing summaries.

It was found that the liquid biopsy approach detects genomic alterations at frequencies comparable to those observed by direct tumour sequencing. Furthermore, the cfDNA also identified new mutations and offered insights into tumour therapeutic resistance.

The results of the study suggest that cfDNA profiling can effectively define the genomic landscape of cancer and yield important biologic insights. This is very significant because liquid biopsies can identify potentially important genomic alterations in patients for whom traditional biopsies may be difficult in terms of risk or cost.

Cell-free DNA testing can identify mechanisms of resistance as well as future treatment options. The cfDNA test in conjunction with computational modeling can be used to adjust therapy as appropriate for those patients progressing after initial treatment. Biopsy-free testing accelerates clinical research and transforms precision medicine.

Genetic mutation discoveries lead directly to personalized medicine options. Selection of cancer drugs is the next step after genomic sequencing. This requires a clear understanding of the possible impacts of known aberrations to activity and drug resistance of the affected genes.

One of the first and major steps in precision medicine is elucidation of functional impacts of gene aberrations. There is a need of use of computational modeling and simulations to predict possible gene activation or inhibition leading to deleterious effects and determine which mutations lead to an increased resistance to known drugs.

Research shows that genetic markers of cancer offer some of the best indicators to recommend personalized treatments and improve survival rates. Identification of specific genetic mutations can provide oncologists with the critical information necessary to effectively recommend therapeutic strategies that overcome resistance mechanisms.

CureMatch is an evidence-based precision medicine system which enables oncologists to offer Personalized Combination Therapy® options to their patients. A cancer patient’s tumor profiling data is required to use CureMatch, either tissue or cfDNA. The mutations that are specific to each individual patient’s cancer are identified.

The CureMatch computational analysis generates a PreciGENE Score which reflects the degree to which a therapy or combination of therapies matches a patient’s biomarker profile. It is represented by a percentage and may be used to compare potential treatment regimens.

Determining the synergisms of oncology drugs allows potential mono-therapies, two-drug combinations, and three-drug combinations to be scored and ranked to target specific molecular aberrations. The growing field of genomics is driving personalized medicine for cancer care.