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Molecular diagnostics and therapy of cancer

Dr. Francis Collins from NIH, USA, officially declared the completion of Human Genome Project in April 2003 at the cost of USD 3.0 billion. It has opened the door to revolutionize molecular diagnostics and point-of-care tests. Advancement in genomics technologies has created astonishing changes in today’s healthcare programs. The introduction of next-generation sequencing (NGS) in clinical diagnostics allows a cost-effective analysis of whole-genome and exome sequencing for diagnosis and therapy of cancer. Similarly, it is now possible to do single-cell sequencing studies, quantifying gene copy number by real-time PCR, gene expression profiling by microarray technology, immunotherapy by (CAR)T cells development and gene editing by CRISPR technology.

Along with this, several bioinformatic programs have greatly supported this innovation in molecular diagnostics. Even molecular diagnostic program has given great support for studying pharmacogenomics in drug-discovery program to overcome drug-resistant side effects by unwanted drug therapy to cancer patients. Another area, which needs highlighting specifically, is the molecular profiling of circulating tumor cells and circulating free DNA from liquid biopsies as a non-invasive technology. This technology has superseded invasive tissue biopsy analysis. So nowadays liquid biopsies are used for monitoring the therapy of metastatic cancer.

Thus, molecular diagnostics becomes an important decision-making tool in the treatment of various cancers at different stages of development. Instead of treating every cancer person with the same therapy, clinicians now have the technology to treat these patients individually with the concept of personalized medicine. Molecular diagnostic tests can be used to search for biomarkers that indicate an elevated risk of developing corresponding cancer. For example, women with BRCA1 or BRCA2 genes mutations may have 85 percent lifetime risk of developing breast cancer. Thus, women having a family history of breast cancer can be screened for BRCA1/BRCA2 mutation to avoid this risk. Screening of human papillomavirus (HPV), which is strongly linked to cervical cancer, can be diagnosed by using PCR-based test to identify the subtypes of HPV that carry the greatest risk of developing cervical cancer. There is an increasing number of molecular markers that can indicate which treatments and therapies may work most effectively for specific cancer treatment. For example, K-Ras testing is done to detect KRAS mutations in pancreatic, colorectal, lung, and other cancers. Approximately 40 percent of colorectal cancer patients with a KRAS mutation will not respond to the anti-EGFR therapy and thus only KRAS mutation-targeted therapy is given to these patients. Another example is the BRAF gene in melanoma. The drug vemurafenib only works in patients who test positive for the V600E BRAF mutation; so testing for that specific mutation before choosing vemurafenib is a necessity. Molecular diagnostic also helps in monitoring hematological cancers. Presently chronic myelogenous leukemia, having a BCR-ABL fusion gene, is being treated successfully by using tyrosine kinase inhibitor, i.e., Gleevec. It shows that molecular diagnostic helps in therapies of various cancers.

The major driving forces for the increasing global molecular diagnostics market are: the rapid advancements and innovation in the molecular biology technologies; growing awareness about the importance of molecular diagnostics in diagnosis and therapies of cancers; and increasing government funding to do novel research in the field of cancer therapeutics. Various national and international companies are coming forward to develop sophisticated instruments as well as lab-on-chips for more precise and affordable testing in the near future.

Overall, innovation in genomics technologies is pushing the healthcare environment toward personalized medicine with real potential to attain better diagnosis and therapies for cancers. Similarly, population-based genome initiatives may improve the concept of personalized medicine by offering better prevention, diagnosis, and therapy for individual cancer patient. The era of precision medicine stratifies patients into groups and subgroups. This is an important strategy during the clinical phases of drug development. It also offers healthcare professionals to customize their treatment by looking at disease susceptibility or response to drug therapy.

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