Genomics and Molecular Diagnostics

Triesta aims at offering comprehensive diagnostics based on next-generation sequencing to patients of all geographies to improve therapy selection, predict response & prognosis, screen for hereditary cancers and predict predisposition and risk.

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Understanding the molecular landscape of cancer has facilitated the development of diagnostic, prognostic and predictive biomarkers for clinical oncology. Recent developments in the field of targeted therapies for cancer have added huge demand for accurate, faster and large-scale DNA sequencing technologies.

Developments in next-generation DNA sequencing technologies have reduced turn-around time and sequencing costs remarkably. This has unlocked opportunities to characterise the genomics and transcriptomic landscapes of cancer for translational research.

Following are the key benefits of employing molecular diagnostics in the field of cancer care:

  • This new paradigm of personalised medicine will break the cycle of ‘trial and error’ medicine and link the test to patient-tailored action and evidence-based therapy/ treatment plan. Multiple gene testing will be more cost-effective in terms of changing therapy regimens, stratifying responders vs. non-responders to drugs, etc.
  • The usage of genomic markers for the assessment of chemo-sensitivity/ chemo-resistance may dramatically improve response rates to chemotherapy among patients, along with a huge impact on the risk-benefit ratio for these patients.
  • The tests will also help to detect hereditary cancers; examples include testing for mutations in BRCA1 or BRCA2 in unaffected women to identify those at significantly elevated risk for developing breast and ovarian cancers, colon cancers, thyroid cancers and other cancers. Molecular diagnostics could be a potential tool for screening patients with newly diagnosed cancers and their family members for risk predisposition to reduce morbidity and mortality.

Cancer Genomics and Precision Diagnostics at HCG

Triesta Sciences, a unit of HealthCare Global (HCG) Enterprises Limited, is a one-stop solution for cancer diagnostics, genomics (next-generation sequencing-based diagnostics) biomarker and translational research, laboratory services and clinical research services.

The department of molecular and clinical genomics at Triesta is the state-of-the-art genomics centre offering comprehensive diagnostics based on next-generation sequencing to patients of all geographies to improve therapy selection, predict response & prognosis, screen for hereditary cancers and predict predisposition and risk.

We study the genomic profiling data of tumour samples and provide robust analysis and biological interpretation of the large data using analytics and interpretation platforms. Along with this and the constant addition of new technologies like liquid biopsy, genomics and translational research, Triesta is geared up to be one of the most advanced labs globally.

The main objective of this department is to:

  • Adopt and contribute to an emerging medical discipline called “Genomic Medicine”.
  • Implement genetic testing as the standard of care for treating cancer at an affordable cost for all patients through the usage of genomic data of patients for better diagnosis, effective therapeutic decisions and overall improved health outcomes.
  • Help patients achieve longer, better lives and improve outcomes.

The in-depth understanding of the genetic profile of cancer cells will enable us to adopt innovative diagnostic and treatment protocols and contribute to an emerging medical discipline called “Genomic Medicine” and also, develop novel therapeutic drugs and technologies to offer individualised treatment for each cancer case as every patient is different. The robust database generated from this project will help us to find new genetic alterations in cancer cells and correlate these alterations to the therapeutic response. This approach will eventually help the clinicians to stratify the patients into responders and non-responders effectively and offer them the “right treatment at the first time.”

With a high disease burden, large patient base at the hospital, seamless availability of well-annotated tissue biorepository, fully-maintained clinical data, strong clinical excellence of the oncologists and scientists at “Centre of Cancer Genomics”, we are best placed to study the genomic profiling data of tumour samples and provide robust analysis and biological interpretation of the large data using analytics and interpretation platform. By doing this, Triesta Sciences takes leadership in cancer genetics and develops a “Genomic Bank” with complete clinical and genomic data.

Genomic Profiling at HCG

HCG has profiled over 2000+ patients with a variety of malignancies using targeted deep sequencing for hotspot mutations in 56 cancer-related genes, a mid-size panel of 152 genes and a bigger gene panel of 500 genes.

The Comprehensive Genomic Profiling (CGP) using TSO 500 gene panel include SNVs, CNVs, translocations, fusions, microsatellite instability and Tumour Mutation Burden (TMB).

HCG has also profiled patients associated with the risk of hereditary cancers using both amplicon and enrichment based technologies via Miseq and Nextseq platforms. Somatic mutations identified in the tumour were assessed for ‘actionability’ i.e., impact on prognosis and response to therapy.

The genetic profiles of these patients were linked to the clinicopathological parameters. In 45% of patients, actionable mutations were identified and reported to the treating clinicians to assist in treating the patients. About 45% of patients had mutations, which were of prognostic and predictive relevance. The results of this pilot study have resulted in 10 +academic presentations/publications all over the world. Our data from this pilot study suggest that targeted deep sequencing using a multi-gene panel approach can yield useful therapeutic and prognostic insights in a wide range of tumour types.

Liquid Biopsy Research

Liquid biopsy is a new technique that has emerged and has great applicability in the field of personalised cancer treatment. Presently, there is a lack of clinically approved, specific circulating biomarkers in blood and plasma. Few markers like CA-125, CA-15-3, CEA, PSA, etc., do exist; but they are limited to some cancers only and they only work well in cases of metastatic cancers when the tumour burden is high. These same markers are also expressed in normal individuals at lower amounts and hence are not very cancer-specific. We also know that cancer is a genetic disease, and the genetics of the tumour can give an in-depth knowledge of tumour biology.

Genetic sequencing and testing is not a new technology. However, limitations like the heterogeneity of the solid tumours, unavailability of the sample post-surgery and inability to biopsy an inaccessible tumour exist. Also, since tumours continuously evolve and change in response to therapy, periodic monitoring is a challenge. Hence, liquid biopsies have emerged as an important way to overcome these challenges where circulating tumour cells (CTC), cell-free DNA (cfDNA) from which circulating tumour DNA (ctDNA) and circulating tumour exomes (CTE) are isolated and examined. The results from these analyses can help doctors make informed clinical decisions.

Frequently Asked Questions

For any cancer to be treated successfully, it has to be diagnosed accurately. By employing molecular diagnostics in cancer care, we can:

  • Deliver actionable and accurate diagnostic results
  • Detect health anomalies that are missed during other tests
  • Help patients make informed health decisions quickly by delivering the test results shorter time duration

These aspects make molecular diagnostics a reliable tool in cancer care.

There are various molecular diagnostic protocols available that help in determining whether or not a person is at risk for a particular cancer type. These tests are particularly helpful for individuals with a family history of a specific cancer type.

Over the years, molecular biologists have come up with numerous protocols to look for particular mutations, the presence of specific biomarkers or proteins, etc., that help in determining an individual’s chance of developing cancer.

Yes, molecular diagnostic protocols are extremely helpful in the early detection of a few cancer types. Let us take breast cancer for instance; molecular biologists look for mutations in the BRCA1 and BRCA2 genes, which are responsible for the increased risk of the disease.

Molecular diagnostic protocols can catch various cancer types years before they start showing symptoms. This way, molecular diagnostics can also support timely medical intervention.

HCG believes in delivering value-based medicine; in other words, it aims at providing the right treatment the first time to every patient. Value-based medicine is supported by accurate diagnosis, which in turn can be made possible by molecular diagnostics.

Our oncologists and molecular biologists are working hand in hand to devise a myriad of molecular diagnostic protocols, which will help patients have multiple treatment options. By making diagnosis more extensive, HCG aims to help patients and family members make informed health decisions.

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