What Is Genomic Testing? Guide to Understanding Your DNA Blueprint

Genomic testing is the analysis of your entire (or large parts of your) DNA to uncover health risks, ancestry, drug responses, disease causes, and more.

Key differences from regular “genetic testing” – Genetic testing usually looks at 1–50 specific genes. Genomic testing scans thousands to millions of DNA letters (often the whole genome or exome).

Main types & 2025 India prices (Yaazh Xenomics/Coimbatore rates in brackets)

• Targeted Gene Panels: ₹8,000 – ₹25,000 (₹10,000–₹18,000)
• Whole Exome Sequencing (WES): ₹18,000 – ₹60,000 (₹24,000–₹35,000)
• Whole Genome Sequencing (WGS): ₹25,000 – ₹99,000 (₹30,000–₹65,000 clinical grade)
• Consumer genomics (ancestry + basic health): ₹12,000 – ₹35,000

Why it matters in 2025 – It is now routine for cancer treatment, rare disease diagnosis, prenatal screening, pharmacogenomics, and preventive health. Costs have fallen 90 % in 8 years and India has some of the lowest prices in the world.

Ready to explore yours? Call Yaazh Xenomics (Coimbatore) at +91-4375-55205 or visit yaazhxenomics.com/contact for free pre-test counselling.

Your Body Runs on a 3-Billion-Letter Instruction Manual Written in DNA

Every single cell in your body contains the same book: a 3.2-billion-letter sequence of A, T, C, and G. That book is your genome.

For most of human history we could only read a few words at a time. Today we can read the entire book — quickly, accurately, and affordably. That is genomic testing.

It is no longer science fiction. It is happening right now in hospitals in Delhi, labs in Coimbatore, and oncology centres in Bangalore. Doctors use it to choose the exact cancer drug that will work for you. Parents use it to understand why their child is not developing normally. Couples use it before pregnancy to avoid heartbreaking recessive diseases. Even curious healthy people use it to know their risks and optimise lifestyle and medicines.

This guide will explain everything in plain language: what genomic testing actually is, how it differs from old-style genetic tests, the different types available today, how the process works step-by-step, real clinical uses, benefits and limitations, costs in India in 2025, ethical questions, and what the future holds.

By the end you will know exactly whether genomic testing is relevant for you or your family — and how to get it done properly.

First, the Difference Between Genetics and Genomics (Most People Mix Them Up)

Genetics = studying individual genes (like studying one recipe in a cookbook). Example: Testing only the BRCA1/BRCA2 genes for breast cancer risk.

Genomics = studying the entire genome or very large parts of it (like reading the whole cookbook, all 20,000+ recipes at once). Example: Whole exome or whole genome sequencing that looks at millions of letters simultaneously.

All modern “genomic testing” uses next-generation sequencing (NGS) platforms (Illumina NovaSeq, Oxford Nanopore, MGI DNBSEQ, etc.) that can read billions of DNA pieces in days instead of years.

That technological leap is why genomic testing has exploded since 2018.

The Main Types of Genomic Tests Available in 2025

1. Targeted Gene Panels

The doctor knows which 50–500 genes are relevant for your condition (e.g., hereditary cancer panel, cardiac panel, neurological panel). Best for: Known family history or specific symptoms. Turnaround: 2–4 weeks. Cost in India: ₹8,000 – ₹25,000.

2. Whole Exome Sequencing (WES)

Sequences only the protein-coding regions (~1.5–2 % of the genome, but ~85 % of known disease-causing mutations live here). Best for: Undiagnosed rare diseases, intellectual disability, autism spectrum, epilepsy in children. Turnaround: 4–8 weeks. Cost in India: ₹18,000 – ₹60,000 (trio WES with parents ₹50,000–₹90,000).

3. Whole Genome Sequencing (WGS)

Reads virtually every letter of your 3.2 billion base pairs (coding + non-coding). Best for:

• Complex undiagnosed cases
• Cancer tumour profiling
• Research
• Maximum future-proof information Turnaround: 4–12 weeks (clinical), 1–2 weeks (research grade). Cost in India: ₹25,000 – ₹99,000 (Yaazh Xenomics 30X clinical WGS ₹65,000).

4. Chromosome Microarray (CMA) / SNP Array

Looks for large deletions/duplications (copy number variants). Still widely used in prenatal and paediatric genetics. Cost: ₹8,000 – ₹15,000.

5. Consumer Genomic Tests (DTC – Direct-to-Consumer)

Companies like 23andMe, MapmyGenome, Xcode Life, DNA Labs India. Mostly SNP genotyping (reads ~600,000–1 million common variants). Reports: Ancestry + carrier status + wellness traits + some polygenic risk scores. Cost: ₹12,000 – ₹35,000.

6. Liquid Biopsy / ctDNA Testing (Cancer Genomic Profiling)

Analyses tumour DNA circulating in blood. Used for monitoring cancer treatment and detecting resistance mutations. Cost: ₹25,000 – ₹1,20,000 per test.

How Genomic Testing Actually Works – Step by Step (Non-Technical Explanation)

1. Sample Collection: Cheek swab, saliva tube, or blood (3–5 ml). For prenatal: mother’s blood (NIPT). For cancer: tumour tissue + blood.
2. DNA Extraction Lab breaks open cells and purifies DNA. Yield is usually 1–10 micrograms.
3. Library Preparation: DNA is fragmented into small pieces (200–600 bp), and adapters are attached so machines can read them.The
4. Sequencing Machine reads the order of bases. Modern machines do billions of reads in parallel (massively parallel sequencing). Coverage: Clinical tests usually 30X–100X (each letter read 30–100 times for accuracy).
5. Bioinformatics Analysis This is the heavy lifting.

• Alignment: Matching billions of short reads to the human reference genome.
• Variant calling: Finding differences (SNPs, indels, copy numbers, structural variants).
• Annotation: Checking if variants are known to be pathogenic (ClinVar, HGMD databases).
• Interpretation: Geneticists/MD geneticists write clinical report.

6. Genetic Counselling & Report Delivery Good labs always include pre- and post-test counselling. Report classifies variants as Pathogenic, Likely Pathogenic, VUS (variant of uncertain significance), Likely Benign, Benign.

The whole process that took 13 years and $3 billion for the first human genome in 2003 now takes days and costs less than a good smartphone.

Real-World Applications of Genomic Testing in 2025

A. Rare Disease Diagnosis (The Biggest Success Story)

70–80 % of rare diseases are genetic. Before genomic testing, families went through a “diagnostic odyssey” of 5–10 years and dozens of wrong tests. Today in India, trio whole-exome sequencing diagnoses ~35–45 % of previously undiagnosed children in one test. At Yaazh Xenomics, we regularly see children who visited 10+ hospitals finally get answers in 6–8 weeks.

B. Cancer Precision Oncology

Every tumour has its own mutation profile. Genomic testing finds actionable mutations (EGFR, ALK, BRAF, NTRK, KRAS G12C, etc.). Example: A lung cancer patient with EGFR exon 19 deletion gets osimertinib instead of chemotherapy — survival doubles, side effects much less.

C. Pharmacogenomics

Your DNA predicts how you metabolise drugs.

• Warfarin dosing (CYP2C9 + VKORC1)
• Clopidogrel response (CYP2C19)
• Abacavir hypersensitivity (HLA-B*5701) Many Indian hospitals now routinely do pharmacogenomic panels before starting psychiatry, cardiology, or pain medicines.

D. Reproductive Genetics

• Carrier screening before marriage/pregnancy (300–2000 genes)
• Non-invasive prenatal testing (NIPT) from 10 weeks
• Preimplantation genetic testing (PGT-M, PGT-A, PGT-SR) in IVF

E. Preventive / Wellness Genomics

Polygenic risk scores (PRS) for common diseases (diabetes, heart disease, breast/prostate cancer, Alzheimer’s). Not perfect yet, but improving fast. Combined with lifestyle data, it allows true personalised prevention.

F. Ancestry & Ethnicity (The Fun Part)

While not medical-grade, consumer genomics has made millions aware of their deep ancestry. Many South Indians discover 3–12 % ancient Iranian farmer DNA, 2–8 % steppe pastoralist, and sometimes surprising Southeast Asian or African traces.

Benefits of Genomic Testing

1. Ends diagnostic odysseys
2. Enables precise treatment (better outcomes, fewer side effects)
3. Informs family planning
4. Guides preventive screening (e.g., early colonoscopies if Lynch syndrome found)
5. Pharmacogenomics prevents adverse drug reactions (India has high burden)
6. Future-proof: One WGS can be re-analysed for decades as knowledge grows

Limitations and Things to Understand

1. Not everything is found – WES solves ~35–45 %, WGS ~50–60 % of rare disease cases.
2. Variant of Uncertain Significance (VUS) – common, can cause anxiety.
3. Non-coding variants still poorly understood (WGS helps but interpretation limited).
4. Privacy concerns – though Indian labs follow strict data protection.
5. Psychological impact – finding increased cancer risk can be stressful (counselling essential).
6. Incidental/secondary findings – e.g., finding BRCA mutation when testing for something else.

Always choose labs that provide genetic counselling.

Genomic Testing Landscape in India 2025

India has >500 NABL-accredited genetic labs (2025 figure). Major players: MedGenome, Strand Life Sciences, MapmyGenome, Lilac Insights, Redcliffe, Genes2Me, DNA Labs India, and regional leaders like Yaazh Xenomics (Coimbatore), Positive Bioscience, etc.

South India (especially Tamil Nadu, Karnataka, Telangana) offers the lowest prices and fastest turnaround because of high volume and local manufacturing of some reagents.

Government initiatives:

• Mission Program on Pediatric Rare Genetic Disorders (DBT) funds WES/WGS for low-income families.
• Unique Methods of Management of Inherited Disorders (UMMID) centres.

Cost of Genomic Testing in India (November 2025 Prices)

All prices +18 % GST. Most labs offer a 10–25 % discount for research/academic use.

Real Patient Stories (Names Changed)

Case 1 – Rare Disease: Four-year-old Aryan from Madurai had seizures and developmental delay. After 3 years and ₹4 lakh spent on tests, trio WES at Yaazh Xenomics found a de novo mutation in the SCN1A gene (Dravet syndrome). Family accessed ketogenic diet therapy and new anti-seizure medication — seizures reduced 80 %.

Case 2 – Cancer, 52-year-old Mrs. Sharma, breast cancer stage III. Tumour genomic profiling showed a PIK3CA mutation. Added alpelisib to treatment — tumour shrank dramatically when chemotherapy alone had failed.

Case 3 – Pharmacogenomics Mr. Ravi was prescribed clopidogrel after angioplasty. The pharmacogenomic test showed he is a poor metaboliser (CYP2C19*2/*3). Switched to ticagrelor — avoided stent thrombosis risk.

Case 4 – Preventive 30-year-old software engineer did a consumer WGS. Found moderate polygenic risk for type-2 diabetes + confirmed familial hypercholesterolemia variant. Started statin at 30 instead of 50, changed diet — HbA1c perfect five years later.

Ethical, Legal, and Social Issues (ELSI)

• Informed consent is mandatory
• Data privacy – most good labs delete raw data after the report or store it encrypted
• GINA-like protection is still evolving in India
• Risk of discrimination by insurance companies (currently, life/health insurers may ask)
• Incidental findings policy varies – some labs report only actionable findings

Always ask the lab about their policy before testing.

The Future of Genomic Testing (Next 5–10 Years)

1. ₹5,000–₹10,000 whole genome sequencing (already happening in research)
2. Population-scale screening at birth (like newborn screening but genome-wide)
3. AI-driven interpretation — reducing VUS rate dramatically
4. Gene editing (CRISPR) for single-gene disorders becoming clinical
5. Long-read sequencing (Nanopore/PacBio) solves complex structural variants routinely
6. Multi-omics (genome + transcriptome + epigenome + proteome) in one test
7. Liquid biopsy is replacing many tissue biopsies

India will play a huge role — we have the volume, diversity, and cost advantage.

Should You Get Genomic Testing?

Ask yourself:

• Do you have unexplained medical issues or a family history of genetic disease? → Yes → Clinical genomic testing.
• Planning pregnancy and want maximum information? → Carrier screening or consider WGS.
• Healthy but want to optimise health and longevity? → Consumer WGS + professional interpretation.
• Cancer patient? → Tumour genomic profiling is now standard of care.

Never order direct-to-consumer raw data interpretation from unknown online services — many misinterpret variants.

Always go through a proper lab with a genetic counsellor.

Final Word: Your Genome Is the Most Personal Data You Own

Understanding it is no longer a privilege of the rich or the desperately ill. In 2025 India, genomic testing is affordable, accurate, and life-changing.

At Yaazh Xenomics, we have sequenced over 25,000 genomes/exomes since 2018. We offer:

• Lowest South India prices
• Free pre-test genetic counselling
• NABL, ISO,and  ICMR-GLP certified
• Oxford Nanopore + Illumina platforms
• Reports in English + regional languages
• Research collaboration discounts for students/academics

Whether you need a simple carrier screen or full clinical whole genome sequencing, we are here to guide you without jargon or upsell.

Call +91-4375-55205 today or WhatsApp us for a free 15-minute consultation.

Your DNA has stories to tell. Let’s read them together.