Next Generation Sequencing (NGS): Technology Behind Hereditary and Cancer Testing

Oct 06, 2025

• Genomics & Molecular Diagnostics

Genetic testing has transformed how we understand disease risks, cancer predisposition, and personalized treatment options. At the heart of this transformation lies Next Generation Sequencing (NGS), a cutting-edge technology that allows rapid, accurate, and large-scale analysis of DNA. From identifying hereditary cancer mutations to guiding precision oncology, NGS testing has become a cornerstone of modern medicine.

What is Next Generation Sequencing (NGS)?

Next Generation Sequencing is an advanced method used to decode the sequence of DNA or RNA much faster and more accurately than traditional sequencing techniques. Unlike older methods that could only analyze one gene at a time, NGS can scan hundreds to thousands of genes simultaneously, making it ideal for hereditary disease testing and cancer genomics.

How NGS Works

1. Sample Collection – A small blood or tissue sample is collected.
2. DNA Extraction – Genetic material is carefully isolated from the cells.
3. Library Preparation – DNA is fragmented and tagged for sequencing.
4. Sequencing – Millions of fragments are read in parallel by an NGS machine.
5. Bioinformatics Analysis – Sophisticated software reconstructs the sequence and identifies mutations or variations.
6. Clinical Interpretation – Genetic experts interpret results to guide patient care.

Applications of NGS in Hereditary and Cancer Testing

1. Hereditary Cancer Testing

NGS is used to detect inherited mutations in genes like BRCA1, BRCA2, TP53, MLH1, MSH2, and others associated with higher risks of breast, ovarian, colon, and other cancers. Identifying these mutations helps families understand their cancer risk and take preventive or early detection measures.

2. Tumor Profiling in Cancer

For patients already diagnosed with cancer, NGS tumor testing helps identify genetic changes driving the cancer. This guides targeted therapies and immunotherapies, leading to more effective and personalized treatment.

3. Carrier Screening

NGS enables couples to undergo carrier screening for genetic disorders before pregnancy, helping them make informed reproductive choices.

4. Rare Disease Diagnosis

NGS is also valuable in diagnosing rare genetic disorders, where conventional testing fails to provide answers.

Advantages of NGS Over Traditional Genetic Testing

• High Throughput: Analyzes multiple genes in a single test.
• Accuracy: Detects even small mutations missed by older methods.
• Cost-Effective: More affordable compared to running multiple single-gene tests.
• Comprehensive: Provides a complete picture of genetic variations.
   

Why NGS is a Game-Changer for Cancer Testing

In oncology, time and precision are critical. NGS ensures:

• Identification of actionable mutations for targeted treatment.
• Better understanding of tumor biology.
• Prognostic insights to guide therapy.
• Option for patients to access clinical trials based on genetic profiles.

NM Medical and NGS Testing

At NM Medical, we partner with leading genetic laboratories to provide NGS-based hereditary and cancer testing. Patients benefit from:

• Advanced NGS technology
• Expert genetic counseling before and after testing
• Accurate, clinically actionable reports
• Support in decision-making for preventive care or treatment

Next Generation Sequencing (NGS) has changed the landscape of genetic testing by enabling fast, comprehensive, and precise DNA analysis. Whether it’s detecting hereditary cancer mutations, profiling tumors for targeted therapies, or diagnosing rare diseases, NGS empowers patients and doctors with life-saving insights.

By integrating NGS testing into healthcare, NM Medical ensures that individuals and families get access to the most advanced genetic technologies for prevention, diagnosis, and treatment.