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Research and new methods

Genetic profile: the disease's passport

A genetic profile is the set of chromosome changes and gene mutations in the leukaemia cells. It defines the type of diagnosis, the risk and the treatment choice.

Last updated: ~1 min read
Chromosomes
Figure 1.Chromosomes — Genetic profile: the disease's passport

01Short answer

A bone marrow or blood sample is taken for the profile. Cytogenetics (the karyotype) shows the chromosomes, FISH shows specific rearrangements, and PCR and NGS show changes in genes. Some results take days and others weeks; urgent treatment sometimes starts before the results and is then refined. The profile may be checked again at relapse, because the disease can change.

02Simple explanation

Chromosomes and genes.

Risk group.

Treatment choice.

At relapse: again.

03Scientific explanation

NCI: genomic profiling identifies the genetic changes in cancer cells and can help guide treatment.

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?

Cytogenetics

Studying chromosomes under the microscope.

Glowing DNA bands in lanes of an electrophoresis gel
Figure 2.DNA bands in a gel

Molecular tests

Checking genes with PCR and NGS.

A report
Figure 3.A report — Genetic profile: the disease's passport

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
CytogeneticsStudying chromosomes under the microscope.
Molecular testsChecking genes with PCR and NGS.
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

Karyotype
A picture of the chromosomes.
FISH
A test that finds chromosome changes with fluorescent labels.
Clinical trial
Testing a new treatment with volunteers.
Evidence
A result confirmed by reliable research.

08Key points

  • Give a sample.
  • Wait.
  • Ask for an explanation.
  • Check the source.
  • Talk to your doctor.

09Frequently asked questions

Why are results delayed?

Some tests need cells to be grown and complex analysis.

Does my profile affect my family?

Usually not; it is the profile of the disease cells.

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. Why are results delayed?

  2. Does my profile affect my family?

  3. Is this advance right for me?

My questions

12Sources

  1. National Cancer Institute. NCI Dictionary of Cancer Terms: genomic profiling
  2. National Cancer Institute. Cancer Genetics
  3. National Cancer Institute. Adult Acute Myeloid Leukemia Treatment (PDQ®) – Patient Version
  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 Dictionary of Cancer Terms: phase III clinical trial
  8. National Cancer Institute. NCI Dictionary of Cancer Terms: phase IV clinical trial
  9. National Cancer Institute. Placebos in Cancer Clinical Trials
  10. National Cancer Institute. NCI Dictionary of Cancer Terms: control group
Medical disclaimerThis information is for educational purposes only and does not replace medical advice.
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