Next Generation Sequencing (NGS)

What is NGS?

Next Generation Sequencing (NGS) is a modern genetic technology that allows scientists to "read" DNA at an incredibly fast speed and high volume. Unlike older methods that could only look at one gene at a time, NGS allows us to sequence millions of DNA fragments simultaneously.

Think of it like reading a library: older tests had to read one book at a time, whereas NGS scans the entire library shelves in parallel. This "high-throughput" approach provides a deeper, more accurate understanding of your unique genetic makeup, making it the gold standard for modern genetic testing.

Who is NGS testing for?

NGS is useful for anyone who wants a comprehensive picture of their genetic health. You should consider Jeen’s NGS testing if you have:

• A family history of inherited conditions or cancer, such as Breast Cancer, Ovarian Cancer, or Colorectal Cancer.
• Concerns about fertility or pregnancy. Jeen’s Carrier Screening and NIPT (Non-Invasive Prenatal Testing) both utilise advanced NGS technology to look for chromosomal health.
• Unexplained symptoms or a rare disease that hasn’t been diagnosed by standard medical exams.
• An interest in proactive health. Many people choose NGS for personalised medicine to understand their future health risks before symptoms appear.

Doctors and genetic counsellors often recommend NGS-based tests because checking multiple genes at once reduces the chance of missing a diagnosis. Single-gene tests can sometimes miss crucial information that broader panels detect.

Unsure if this is right for you? Jeen’s team of genetic counsellors can help you decide which test fits your situation.

What does an NGS test detect?

Our NGS test looks for genetic variants (mutations) across a large panel of genes linked to health conditions. This allows us to detect:

1. Cancer Risks: Genes such as BRCA1 and BRCA2 that significantly raise the risk of hereditary cancers.
2. Hereditary Diseases: Conditions passed down through families, often detectable before symptoms arise.
3. Reproductive Health: Genes relevant to pregnancy, ensuring you understand the risks of passing conditions to children.

The Power of "Coverage"

For example, a Jeen cancer risk panel uses NGS to check dozens of cancer-related genes in one go. We use high "coverage", meaning we read each DNA segment approximately 50 times. This redundancy ensures that even very small genetic changes (single-letter changes or small insertions/deletions) are identified with high confidence.

Because of this depth, NGS is incredibly thorough. In fact, Genomics England describes Whole Genome Sequencing (a type of NGS) as "the most comprehensive genomic test" available. While we offer targeted panels, they cover hundreds of genes to give you a deep, clinical-grade look at your health.

Why does this testing matter?

Getting an NGS-based test can be a vital step in health planning. By revealing inherited gene changes early, you have time to consider screening, preventive measures, or treatments.

• Preventive Care: Finding a gene that raises cancer risk may lead to extra check-ups or even preventive surgery before cancer ever develops.
• Family Planning: In fertility and pregnancy, knowing your carrier status helps parents plan safer pregnancies.

NGS-powered tests are already transforming healthcare. They help doctors diagnose rare diseases faster and enable truly personalised care. Jeen’s research-based approach means we only report clinically validated findings, and our genetic counsellors help you interpret what the results mean for you and your family.

Limitations of Targeted NGS Panels

You only find what you are looking for. If your disease is caused by a gene not on the panel, the test will miss it. As science discovers new genes, panels must be updated. A negative result today might need re-testing in future years as panels expand. This also means a change in the PPV, NPV and accuracy of the tests.

How does the testing process work?

1. Book online and get your kit: Order a Jeen NGS test on our Genetic Tests page. We ship an at-home sample kit anywhere in the UK or eligible EU countries.
2. Provide a DNA sample: Follow the simple instructions (usually a saliva or cheek swab). This is painless and can be done at home.
3. Send back to lab: Return your sample using the pre-paid envelope. Jeen’s accredited labs (in the UK, EU or USA) extract your DNA and run the NGS analysis.
4. Analyse and report: Our lab sequences your DNA and looks for the gene variants we screen for. A trained geneticist reviews any findings.
5. Results and counselling: We send you a clear report and an appointment with one of our Genetic Counsellors. They will explain your results in plain English, answer questions, and help you plan any next steps.

The whole process typically takes a few weeks from sample return to final report. All Jeen tests include counselling and we make sure your data stays secure and confidential.