Genomics and Molecular Diagnostics Technology and Treatment Center
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Overview
At AIROC Hospitals, our Department of Molecular and Clinical Genomics uses next-generation sequencing to read the genetic makeup of a tumour and identify the specific mutations driving it. This information allows oncologists to select therapies matched to an individual patient's cancer rather than working through treatments by trial and error, to predict which drugs are likely to work and which are not, to assess prognosis, and to screen families for inherited cancer risk.
Cancer Genomics & Precision Diagnostics at AIROC
Cancer is fundamentally a disease of the genome. Two patients with tumours that look identical under the microscope may carry entirely different mutations, respond to entirely different drugs, and face entirely different outcomes. Genomic profiling reads those mutations directly, turning a broad diagnosis such as "lung adenocarcinoma" into a specific molecular description that points towards the treatments most likely to work — and, just as importantly, away from those that will only cause toxicity without benefit.
Advances in next-generation sequencing have made this practical in routine care rather than research alone, with turnaround times and costs now a fraction of what they were a decade ago. Our genomics centre offers comprehensive diagnostics to patients treated at AIROC and referred from elsewhere, covering targeted hotspot panels through to comprehensive genomic profiling, hereditary cancer screening, and liquid biopsy. Results are analysed on advanced bioinformatic and interpretation platforms, reviewed by our molecular team, and presented to treating oncologists at multidisciplinary tumour board meetings so that the genomic findings are acted on in full clinical context. Because histopathology, clinical laboratory services, and genomics sit within the same institution, additional molecular testing can usually be performed on tissue already stored, without a repeat biopsy.
Why Molecular Diagnostics Matters
Targeted Therapy Selection
Identifying the specific driver mutation in a tumour allows clinicians to match patients with drugs designed against that target, improving response rates while avoiding the toxicity of treatments unlikely to help.
Predicting Response & Resistance
Genomic markers indicate whether a tumour is likely to be sensitive or resistant to chemotherapy and targeted agents, improving the risk-benefit balance of every treatment decision.
Immunotherapy Eligibility
Markers such as microsatellite instability and tumour mutation burden help determine which patients are likely to benefit from immunotherapy — a treatment that is transformative for some patients and ineffective for others.
Prognostic Information
Certain mutations carry established prognostic weight, helping oncologists and families understand the likely course of disease and plan treatment intensity accordingly.
Cancer of Unknown Primary
Where the origin of a tumour cannot be established by imaging or pathology, molecular profiling can point to the likely primary site and open up treatment options that would otherwise remain closed.
Hereditary Cancer Risk
Testing for inherited mutations such as BRCA1 and BRCA2 identifies families carrying elevated cancer risk, enabling surveillance and preventive measures for relatives who have not developed cancer.
Avoiding Ineffective Treatment
A negative result is clinically valuable. Knowing that a targeted drug will not work spares patients months of futile treatment, avoidable side effects, and considerable expense.
Clinical Trial Access
Many trials now enrol patients on the basis of specific mutations rather than cancer type, so a genomic report can identify studies a patient may be eligible for.
Tests & Services Offered
- Comprehensive Genomic Profiling (500-gene panel)
- Mid-Size Targeted Panel (152 genes)
- Hotspot Mutation Panel (56 cancer-related genes)
- Single-Gene & Focused Mutation Testing
- Microsatellite Instability (MSI) Testing
- Tumour Mutation Burden (TMB) Assessment
- Fusion & Translocation Detection
- Copy Number Variation (CNV) Analysis
- Liquid Biopsy — Cell-Free DNA (cfDNA)
- Circulating Tumour Cell (CTC) Analysis
- Hereditary Cancer Panel Testing
- BRCA1 & BRCA2 Testing
- Pharmacogenomic Testing
- Genetic Counselling Support
- Molecular Tumour Board Review
- Testing on Externally Referred Blocks & Slides
How The Testing Works
Sample Selection
Testing is usually performed on tumour tissue already stored from a previous biopsy or surgery. Where no suitable tissue exists, a blood sample for liquid biopsy may be used instead.
DNA & RNA Extraction
Nucleic acid is extracted from the sample and assessed for quantity and quality, since degraded or insufficient material is the most common reason a test cannot proceed.
Library Preparation & Sequencing
The genetic material is prepared and sequenced on next-generation sequencing platforms, reading many genes simultaneously at high depth to detect mutations present in only a small fraction of cells.
Bioinformatic Analysis
Raw sequencing data is processed through validated pipelines that identify variants, filter out background noise, and distinguish genuine tumour mutations from normal genetic variation.
Clinical Interpretation
Detected variants are assessed for actionability — whether they change treatment, predict response, or carry prognostic weight — and classified against international databases and guidelines.
Reporting & Tumour Board
A structured report is issued to the treating oncologist and, for complex cases, discussed at a molecular tumour board so the findings are translated into a concrete treatment plan.
Technology & Facilities
The Department of Genomics and Molecular Diagnostics at AIROC Hospitals, Hyderabad offers advanced infrastructure for accurate, high-throughput molecular testing.
The facilities at AIROC Hospitals for Genomics and Molecular Diagnostics include:
- Next-Generation Sequencing Platforms (MiSeq & NextSeq)
- Comprehensive Genomic Profiling using the TSO 500 Panel
- Amplicon & Enrichment-Based Sequencing Capability
- Liquid Biopsy & Cell-Free DNA Processing
- Automated Nucleic Acid Extraction Systems
- Advanced Bioinformatics & Variant Interpretation Platform
- Annotated Tissue Biorepository
- Integrated Histopathology & Clinical Laboratory Linkage
- Molecular Tumour Board
- Genetic Counselling Services
Our Experience
AIROC has profiled more than 2,000 patients across a wide range of malignancies using targeted deep sequencing — hotspot panels covering 56 cancer-related genes, mid-size panels of 152 genes, and comprehensive panels of 500 genes. Comprehensive genomic profiling using the TSO 500 panel covers single nucleotide variants, copy number variants, translocations and fusions, microsatellite instability, and tumour mutation burden.
Patients at risk of hereditary cancers have been profiled using both amplicon and enrichment-based technologies on MiSeq and NextSeq platforms. Somatic mutations identified in tumours are assessed for actionability — their impact on prognosis and on response to therapy — and linked to clinicopathological parameters.
In our profiling programme, actionable mutations were identified and reported to treating clinicians in a substantial proportion of patients, informing their treatment directly. This work has contributed to more than ten academic presentations and publications internationally, and supports the conclusion that multi-gene panel sequencing yields useful therapeutic and prognostic insight across a broad range of tumour types.
Liquid Biopsy
Liquid biopsy detects tumour DNA and tumour cells circulating in the bloodstream, offering a route to molecular information where tissue is not available.
Conventional blood markers such as CA-125, CA 15-3, CEA, and PSA exist but are limited: they apply only to certain cancers, work reliably only when tumour burden is high, and are present at low levels in healthy people, making them insufficiently specific. Sequencing the tumour's genetics directly gives a far more precise picture of its biology.
Tissue biopsy, however, has practical limits of its own. Solid tumours are heterogeneous, so a single sample may not represent the whole; tissue may be unavailable after surgery; some tumours cannot be safely biopsied at all; and because tumours evolve under treatment, repeated sampling is often impractical. Liquid biopsy addresses these constraints — circulating tumour cells and cell-free DNA are isolated from a blood draw, allowing molecular assessment to be repeated over time and used to monitor how a tumour is changing in response to therapy.