Genetic Techniques and Next-Generation Sequencing
Genetic techniques like Next-Generation Sequencing (NGS) help diagnose rare diseases, guide cancer treatment, and assess inherited health risks. Learn how NGS works, who should consider testing, and how it can improve healthcare decisions.
Written by Dr. Dhankecha Mayank Dineshbhai
Reviewed by Dr. Md Yusuf Shareef MBBS
Last updated on 5th Sep, 2025
Genetic testing has revolutionised modern medicine, helping doctors diagnose diseases, predict risks, and personalise treatments. Among the most advanced techniques is Next-Generation Sequencing (NGS), a powerful tool that reads DNA quickly and accurately. If you or a loved one has been recommended for genetic testing, you might have questions about how it works and what it means for your health.
This article will explain genetic techniques, how NGS helps in healthcare, and what you can expect if you need such testing.
What Are Genetic Techniques?
Our bodies are made up of cells containing DNA—a unique genetic code that determines everything from eye colour to disease risk. Genetic techniques are scientific methods used to study DNA and identify changes (mutations) that may cause health problems.
Some common genetic techniques include:
1. Polymerase Chain Reaction (PCR) – Copies small DNA segments for analysis.
2. Sanger Sequencing – Reads DNA sequences but is slower and used for smaller sections.
3. Next-Generation Sequencing (NGS) – A faster, more efficient method that reads large amounts of DNA at once.
NGS is particularly important because it allows doctors to examine multiple genes simultaneously, making it easier to detect rare or complex genetic disorders.
What Is Next-Generation Sequencing (NGS)?
NGS is a high-tech method that reads millions of DNA fragments at the same time. Unlike older techniques that analyse one gene at a time, NGS can scan entire genomes (all of a person’s DNA) or specific gene panels related to certain diseases.
How Does NGS Work?
1. Sample Collection – A small blood, saliva, or tissue sample is taken.
2. DNA Extraction – The DNA is isolated from the sample.
3. Fragmentation & Sequencing – The DNA is broken into small pieces and read by a machine.
4. Data Analysis – Computers compare the DNA sequence to a reference genome to find mutations.
This process helps doctors identify genetic disorders, cancer mutations, and even inherited conditions that may affect future generations.
Why Is NGS Important for Your Health?
NGS has transformed healthcare by:
- Diagnosing Rare Diseases – Helps find genetic causes of unexplained symptoms.
- Personalising Cancer Treatment – Identifies mutations to choose the best therapy.
- Predicting Genetic Risks – Reveals inherited conditions like heart disease or diabetes.
- Newborn Screening – Detects genetic disorders early in babies.
For example, if someone has a family history of breast cancer, NGS can check for mutations in the BRCA1/BRCA2 genes to assess their risk.
Who Should Consider Genetic Testing?
You may benefit from genetic testing if:
- You have a family history of genetic disorders (e.g., cystic fibrosis, sickle cell anaemia).
- You have unexplained symptoms that could be genetic.
- You are planning a pregnancy and want to check for inherited conditions.
- You have cancer and need targeted treatment options.
If you’re unsure, consult a genetic counsellor or doctor to discuss whether testing is right for you.
Consult a General Practitioner for Personalised Advice
How to Prepare for a Genetic Test
1. Consult a Specialist – A genetic counsellor can explain the process and risks.
2. Understand the Costs – Some tests may be covered by insurance; check beforehand.
3. Know Possible Outcomes – Results may confirm, rule out, or reveal unexpected findings.
4. Emotional Preparation – Genetic results can be life-changing; seek support if needed.
Managing Genetic Conditions: Tips for Better Health
If a genetic test reveals a health risk, here’s how you can take control:
- Regular Check-ups – Early detection improves outcomes.
- Lifestyle Changes – A healthy diet, exercise, and avoiding smoking/alcohol can reduce risks.
- Medication & Therapy – Some conditions can be managed with treatment.
- Family Planning – Couples can make informed decisions about pregnancy.
Remember, a genetic mutation doesn’t always mean you’ll develop a disease—many factors influence health.
Where Can You Get Genetic Testing?
If your doctor recommends genetic testing, Apollo 24|7 offers advanced NGS services with expert guidance. You can:
🔹 Book a consultation with a genetic specialist.
🔹 Schedule a test from the comfort of your home.
🔹 Get secure, confidential results with professional interpretation.
Genetic testing can empower you with knowledge to make better health decisions.
Final Thoughts
Genetic techniques like Next-Generation Sequencing are changing medicine by providing deeper insights into our DNA. Whether for diagnosing rare diseases, personalising cancer treatment, or assessing inherited risks, NGS offers hope for better healthcare.
If you think genetic testing could help you or your family, speak to a doctor or genetic counsellor today. Knowledge is power—and understanding your genes can lead to a healthier future.
Need a genetic test? Visit Apollo 24|7 to book an appointment or learn more!
Consult a General Practitioner for Personalised Advice
Consult a General Practitioner for Personalised Advice
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Consult a General Practitioner for Personalised Advice
Dr Syed Mateen Pasha
General Physician
2 Years • MBBS
Bengaluru
PRESTIGE SHANTHINIKETAN - SOCIETY CLINIC, Bengaluru
Dr. Anand Ravi
General Physician
2 Years • MBBS
Bengaluru
PRESTIGE SHANTHINIKETAN - SOCIETY CLINIC, Bengaluru
Dr. D Bhanu Prakash
General Practitioner
10 Years • MBBS, AFIH, Advanced certificate in critical care medicine, Fellowship in critical care medicine
Hyderabad
Apollo 24|7 Clinic, Hyderabad
Dr. Karanam Kondalamma
General Practitioner
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KK Clinic, Hyderabad
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General Practitioner
9 Years • MBBS
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