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Inherited genetic changes and the impact on MDS treatment

EBMT working party releases recommended guidelines for testing and treatment

Research has shown that certain inherited genetic changes—or germline variants—could make a person more likely to have certain types of blood cancers and blood disorders, such as myelodysplastic syndromes (MDS). Understanding if a patient or donor has these genetic changes is important for doctors as they determine the treatment plan for a patient who needs an allogeneic blood or marrow transplant (BMT).

Allogeneic BMT uses blood stem cells from a related or unrelated donor. Understanding if a patient or donor has one of these genetic changes could impact:

  • Donor selection (if a donor has certain genetic changes, the patient has a higher chance of developing leukemia after BMT)
  • The patient’s conditioning strategy before transplant (conditioning gets the patient’s body ready for BMT)
  • How the physician manages the patient’s treatment after BMT to prevent complications like graft-versus-host disease (GVHD)
  • If genetic counseling is recommended for relatives or the unrelated donor

Currently, there are not international guidelines to standardize the treatment approach for patients with MDS when specific genetic changes are detected through molecular testing. The Chronic Malignancies Working Party (CMWP) of the European Society for Blood and Marrow Transplantation (EBMT) set out to understand the current practices in Europe and establish consistent guidelines for testing and treatment of patients with MDS who have specific genetic changes.

How the group established the guidelines

A CMWP MDS subcommittee and Practice Harmonization and Guidelines committee surveyed EBMT transplant centers with high expertise in BMT for MDS. They also sent the survey to an international panel of experts with worldwide representation.

The survey showed variation in many areas such as:

  • Access to and use of next-generation molecular testing
  • Criteria used in deciding which patients to screen
  • Access to a dedicated genetic counselor
  • Whether or not detection of a genetic trait led to use of a different donor or different conditioning strategies

The groups brought together an international panel of hematologists, transplant physicians, pediatricians, nurses, and experts in molecular biology and genetics to discuss the survey results and establish the guidelines. The panel members all had experience in MDS.

What the guidelines recommend

The guidelines published in The Lancet Haematology medical journal outline many recommendations in the following areas:

  • Criteria to screen patients with MDS for germline variants
  • How to test, confirm and interpret germline variants in patients with MDS who will have BMT
  • Genetic counseling and surveillance of donors and families with inherited traits, with particular consideration for the psychological impact on patients and their family members
  • Specific considerations and recommendations for conditioning regimens and GVHD prevention strategies
  • Follow-up after BMT to screen for potential complications, such as donor-derived leukemia

Following the recommendations outlined in the guidelines could improve outcomes for patients with MDS who have specific germline variants.

Read the clinical summary

View the infographic