← Back
Research and new methods

Computer analysis of genetics

Sequencing produces millions of short DNA fragments. Programs piece them together, compare them with the normal sequence and pick out the changes that matter in leukaemia.

Last updated: ~1 min read
A benchtop DNA sequencer with its touch screen in a laboratory
Figure 1.A benchtop DNA sequencer

01Short answer

The steps are aligning the reads, finding differences, filtering out reading errors, comparing changes with databases and classifying them. A laboratory geneticist confirms the final report; some changes are marked as being of uncertain significance. This analysis helps define the risk group, a targeted medicine and MRD monitoring. Sometimes an inherited (germline) change is found, which may call for genetic counselling for the family.

02Simple explanation

Millions of fragments.

Comparison.

A geneticist confirms.

Helps choose treatment.

03Scientific explanation

NCI: bioinformatics uses computers to analyse genetic data.

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?

What the report contains

The changes found and what they mean.

A puzzle
Figure 2.A puzzle — Computer analysis of genetics

Uncertain results

Not every change has a known meaning.

A filter
Figure 3.A filter — Computer analysis of genetics

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
What the report containsThe changes found and what they mean.
Uncertain resultsNot every change has a known meaning.
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

Sequencing
Reading the DNA sequence.
Germline
A change present from birth in every cell.
Clinical trial
Testing a new treatment with volunteers.
Evidence
A result confirmed by reliable research.

08Key points

  • Learn.
  • Ask your doctor.
  • Write it down.
  • Check the source.
  • Talk to your doctor.

09Frequently asked questions

When will the result be ready?

Usually within a few days to a few weeks.

Should my family be tested?

Only if an inherited change is found; a genetic counsellor will advise.

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. When will the result be ready?

  2. Should my family be tested?

  3. Is this advance right for me?

My questions

12Sources

  1. National Cancer Institute. NCI Dictionary of Cancer Terms: bioinformatics
  2. National Cancer Institute. Cancer Genetics
  3. National Cancer Institute. Biomarker Testing for Cancer Treatment
  4. National Cancer Institute. What Are Clinical Trials?
  5. National Cancer Institute. Phases of Clinical Trials
  6. National Cancer Institute. Using Trusted Resources
  7. National Cancer Institute (NCI). NCI Dictionary of Cancer Terms: flow cytometry
  8. National Cancer Institute (NCI). NCI Dictionary of Cancer Terms: next-generation sequencing
  9. National Cancer Institute (NCI). Find NCI-Supported Clinical Trials
  10. National Cancer Institute (NCI). Immunotherapy for Cancer
Medical disclaimerThis information is for educational purposes only and does not replace medical advice.
Last updated: ← Back to the list

Open the interactive site →