GENOMIC PROFILING AND
NEXT-GENERATION SEQUENCING IN CANCER
Prepared by the CancerFax oncology navigation team. Updated regularly based on diagnostic access and clinical practice.
What Genomic Profiling and NGS Are
Cancer is fundamentally a disease of altered DNA. Genomic profiling refers to the process of testing a tumour sample to identify the genetic changes driving its growth. Next-generation sequencing is the technology most commonly used today, allowing dozens to hundreds of cancer-related genes to be analysed simultaneously from a single sample. There are several types of genomic tests, each with different scope and use: Many tests also distinguish between somatic alterations (acquired by the tumour) and germline variants (inherited), which is important for both treatment decisions and family screening.
Hotspot panels β focused tests covering a small number of ge
Hotspot panels β focused tests covering a small number of genes with known clinical relevance, often at lower cost.
Comprehensive genomic profiling (CGP) β broader panels cover
Comprehensive genomic profiling (CGP) β broader panels covering 300 to 500+ genes, including fusions, copy number changes, MSI, and tumour mutation burden.
Whole exome and whole genome sequencing β research-grade ana
Whole exome and whole genome sequencing β research-grade analysis used in selected clinical settings, neoantigen vaccine design, and complex cases.
Liquid biopsy (cell-free DNA) β blood-based NGS that can det
Liquid biopsy (cell-free DNA) β blood-based NGS that can detect tumour DNA shed into the bloodstream, useful when tissue is unavailable or when monitoring response and resistance.
What These Tests Look For
Genomic profiling looks for several types of clinically meaningful findings: Each finding is classified by clinical significance β actionable, potentially actionable, or of uncertain significance β based on current evidence and approved or trial-stage therapies.
Driver gene mutations such as EGFR, KRAS, BRAF, PIK3CA, IDH1
Driver gene mutations such as EGFR, KRAS, BRAF, PIK3CA, IDH1/2, and BRCA1/2
Gene fusions such as ALK, ROS1, NTRK, RET, and FGFR rearrang
Gene fusions such as ALK, ROS1, NTRK, RET, and FGFR rearrangements
Copy number changes such as HER2 or MET amplification
Copy number changes such as HER2 or MET amplification
Microsatellite instability (MSI-H) and mismatch repair defic
Microsatellite instability (MSI-H) and mismatch repair deficiency (dMMR)
Tumour mutation burden (TMB), used as an immunotherapy bioma
Tumour mutation burden (TMB), used as an immunotherapy biomarker
Homologous recombination deficiency (HRD), relevant for PARP
Homologous recombination deficiency (HRD), relevant for PARP inhibitor decisions
Resistance mutations that explain why a previous targeted th
Resistance mutations that explain why a previous targeted therapy stopped working
Sample and Document Requirements
For a meaningful NGS report, the laboratory and the reviewing oncologist usually need: If tissue is older than three years, low in tumour content, or insufficient in quantity, liquid biopsy may be considered as an alternative or complementary test.
Adequate tumour tissue β formalin-fixed paraffin-embedded (F
Adequate tumour tissue β formalin-fixed paraffin-embedded (FFPE) block or unstained slides, with sufficient tumour cellularity
A blood sample for matched germline analysis or for liquid b
A blood sample for matched germline analysis or for liquid biopsy
Pathology and IHC reports
Pathology and IHC reports
Latest medical summary, diagnosis, and treatment history
Latest medical summary, diagnosis, and treatment history
PET CT, CT, or MRI reports
PET CT, CT, or MRI reports
Recent blood work, including liver and kidney function
Recent blood work, including liver and kidney function
Information on previous targeted or immunotherapy use, where
Information on previous targeted or immunotherapy use, where relevant
How CancerFax Helps
CancerFax supports patients through every step of the NGS pathway:
Test selection β based on cancer type, stage, and prior trea
Test selection β based on cancer type, stage, and prior treatment, the most appropriate panel β hotspot, comprehensive, or liquid biopsy β is identified.
Lab coordination β reliable NGS laboratories in India, China
Lab coordination β reliable NGS laboratories in India, China, Germany, the United States, and other countries are matched to the patient's case and budget.
Sample logistics β guidance is provided on tissue retrieval,
Sample logistics β guidance is provided on tissue retrieval, slide preparation, and international sample shipping where required.
Report interpretation β results are reviewed against the ful
Report interpretation β results are reviewed against the full clinical picture, ideally with a molecular tumour board or qualified oncologist, before treatment decisions are made.
Treatment and trial matching β actionable findings are mappe
Treatment and trial matching β actionable findings are mapped to approved therapies, biosimilars, and relevant clinical trials internationally.
Cost and Turnaround Time
NGS pricing varies significantly based on panel size, lab, and country. Hotspot panels are the most affordable; comprehensive genomic profiling, whole exome sequencing, and liquid biopsy generally cost more. India offers some of the most cost-effective comprehensive NGS internationally, with reliable laboratories serving patients globally. Major Chinese labs and international platforms are also widely available. Turnaround time is typically two to three weeks from sample receipt for tissue NGS, and seven to fourteen days for liquid biopsy. Comprehensive panels with germline analysis or whole exome sequencing may take longer. CancerFax helps patients understand realistic timelines and avoid delays caused by tissue or shipping issues. Final cost depends on lab selection, panel choice, and any additional tests requested.
Where This May Be Available
Reliable NGS testing is now available in most major cancer centres globally. India has built strong precision oncology infrastructure with multiple accredited laboratories offering competitive pricing for international patients. China has a mature ecosystem of major genomics labs supporting both clinical care and trial enrolment. Germany, the United States, Singapore, and Japan also operate well-known platforms for comprehensive genomic profiling and liquid biopsy. CancerFax helps patients choose between local, regional, and international labs based on cancer type, panel coverage, expected actionability, turnaround time, and cost β rather than on lab brand alone.
Frequently Asked Questions
Answers to common questions from patients and families.
What is the difference between NGS and a regular pathology test?
Standard pathology and IHC confirm the type of cancer and check a small number of well-known markers. NGS goes deeper, reading the DNA (and sometimes RNA) of the tumour to identify dozens or hundreds of gene-level changes at once. Pathology answers βwhat kind of cancer is this?β while NGS helps answer βwhat is driving it, and which treatments are most likely to work?β
Do I need NGS testing for all cancers?
No. NGS is most valuable in advanced or metastatic cancers, rare cancers, sarcomas, cancer of unknown primary, and cancers where multiple targeted options exist (such as lung, colorectal, breast, ovarian, prostate, and biliary cancers). For early-stage cancers with clear standard treatment, NGS may not change the plan. The treating oncologist can advise whether testing is likely to influence decisions.
Can liquid biopsy replace tissue NGS?
Liquid biopsy is useful when tissue is unavailable, insufficient, or too old, and for monitoring response or resistance. However, it can miss findings in tumours that shed little DNA into the blood, and it does not give the full picture in every case. In many situations, tissue NGS remains the preferred starting point, with liquid biopsy used to complement or follow up.
How long does NGS take?
Tissue NGS usually takes around two to three weeks from sample receipt at the lab. Liquid biopsy is faster, often returned within seven to fourteen days. Comprehensive panels, whole exome sequencing, or tests that include germline analysis may take longer. Realistic planning is important when treatment decisions cannot wait, and CancerFax helps coordinate timelines so testing does not delay care unnecessarily.
Will NGS find a treatment for me?
Sometimes, but not always. NGS may identify a clear actionable target, suggest immunotherapy through MSI or TMB findings, or open access to a clinical trial. In other cases, results may show no actionable driver, only variants of uncertain significance, or only resistance mutations without a matching therapy. The value of NGS is information that improves decision-making, not a guarantee of a new treatment.
Is NGS testing covered by insurance?
Coverage varies widely by country, insurer, and indication. Some health systems cover NGS for specific cancers and stages; others do not. Many patients pay out of pocket for comprehensive panels, especially when testing is performed internationally. CancerFax helps patients understand cost ranges in different countries and identify the most appropriate lab and panel for their budget and clinical needs.
How CancerFax Helps
CancerFax is a specialist cancer access and patient-navigation platform. We help patients and families understand their options, organise medical records, coordinate hospital communication, and support cross-border treatment planning where appropriate.
We help collect and organise reports, scans, pathology, biomarker results, and treatment history for structured case review.
We communicate with hospitals or trial teams to assess whether a case may be suitable for further screening.
We support appointment coordination, document submission, translation, and direct communication with international departments.
For international patients, we help with practical coordination β travel planning, hospital admission guidance, and local support.
If this option is not suitable, we help explore other relevant treatments, clinical trials, or advanced care pathways.
From inquiry through to follow-up, our coordinators provide a single point of contact for the family.
CancerFax does not guarantee treatment access, eligibility, or clinical outcome. Our role is to help patients access accurate information, structured review, and appropriate specialist pathways.
Need Help Understanding Your Options?
If you or a family member is considering NGS or genomic profiling, CancerFax can help select the right test, coordinate sample logistics across countries, and ensure the report is properly interpreted in context. Share your reports to receive structured guidance on which panel may be most useful and what to do with the results. CTAs: Share Your Reports | Request a Second Opinion | Explore Clin
This content is for informational purposes only and does not constitute medical advice. Always consult a qualified oncologist before making treatment decisions.