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Research and new methods

NGS: reading many genes at once

Next-generation sequencing (NGS) is a technology that can read tens to hundreds of genes in one sample at the same time. In leukaemia it is used to find the mutation profile and sometimes to measure MRD.

Last updated: ~1 min read
DNA fragments
Figure 1.DNA fragments — NGS: reading many genes at once

01Short answer

The DNA is broken into small fragments, each read millions of times, and computer programs then compare them with the normal sequence. The result shows which genes are changed and in what share of cells. NGS panels are widely used in AML, MDS and other conditions to assess risk and choose medicines. Sometimes the meaning of a change is not yet clear; this is called a variant of uncertain significance.

02Simple explanation

Many genes at once.

The mutation profile.

Sometimes MRD.

Not everything is clear.

03Scientific explanation

NCI: next-generation sequencing is a method that quickly determines the sequence of DNA or RNA.

NCI: new treatments are tested step by step, from the laboratory to clinical trials; only those proven safe and beneficial become standard care.

04What happens in the body?

Panel

A selected set of genes.

A long room lined with DNA sequencing machines
Figure 2.A room of DNA sequencers

Variant allele fraction

The percentage of reads carrying a change.

A gene panel
Figure 3.A gene panel — NGS: reading many genes at once

How to read the news

Research news brings hope, but not every advance suits everyone. Look at who it was tested in, at what phase and in how many people.

Talk to your doctor

Show your doctor what you have read; they will explain how it relates to your diagnosis and treatment. Do not change your treatment on your own.

05From research news to a conversation: four steps

Read, check, ask, decide together.

Read — From a trusted source.1ReadFrom a trusted source.
Check — Phase, participants, result.2CheckPhase, participants, result.
Ask — Show your doctor.3AskShow your doctor.
Decide — Together, without rushing.4DecideTogether, without rushing.
SourceA trusted site.
DoctorA personal explanation.
SafetyNot changing treatment yourself.

06Key points at a glance

TopicIn brief
PanelA selected set of genes.
Variant allele fractionThe percentage of reads carrying a change.
How to read the newsResearch news brings hope, but not every advance suits everyone. Look at who it was tested in, at what phase and in how many people.
Talk to your doctorShow your doctor what you have read; they will explain how it relates to your diagnosis and treatment. Do not change your treatment on your own.

07Key terms

NGS
Next-generation sequencing.
VUS
Variant of uncertain significance.
Clinical trial
Testing a new treatment with volunteers.
Evidence
A result confirmed by reliable research.

08Key points

  • Read.
  • Compare.
  • Interpret.
  • Check the source.
  • Talk to your doctor.

09Frequently asked questions

Is NGS done for everyone?

It is recommended in many leukaemias such as AML; availability depends on the country.

My report lists many genes.

Ask your doctor which ones affect treatment.

Is this advance right for me?

Only your treating doctor can say, based on your diagnosis, stage and condition.

10Questions for your doctor

Take these questions to your appointment. The ones you save are collected on the “My questions” page and stay on this device only.

  1. Is NGS done for everyone?

  2. My report lists many genes.

  3. Is this advance right for me?

My questions

12Sources

  1. National Cancer Institute. NCI Dictionary of Cancer Terms: next-generation sequencing
  2. National Cancer Institute. Adult Acute Myeloid Leukemia Treatment (PDQ®) – Patient Version
  3. National Cancer Institute. What Are Clinical Trials?
  4. National Cancer Institute. Phases of Clinical Trials
  5. National Cancer Institute. Using Trusted Resources
  6. National Cancer Institute. NCI Dictionary of Cancer Terms: targeted therapy
  7. National Cancer Institute. NCI Dictionary of Cancer Terms: biomarker
  8. National Cancer Institute. NCI Dictionary of Cancer Terms: precision medicine
  9. National Cancer Institute. NCI Dictionary of Cancer Terms: genomic profiling
  10. National Cancer Institute. NCI Dictionary of Cancer Terms: liquid biopsy
Medical disclaimerThis information is for educational purposes only and does not replace medical advice.
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