Titel: Towards European Standard Clinical Practice guidance for individuals with familial leukemia
ID: P-ClinG-052
Art: Postertalk
Redezeit: 2 min
Session: Poster Session
ClinG 2

Referent: Alisa Förster (Hannover/DE)

Abstract - Text


Although hematologic malignancies (HM) are no longer considered exclusively sporadic, awareness for familial cases has yet to be raised. Individuals carrying a (likely) pathogenic germline variant (e.g., in ETV6, GATA2, SAMD9, SAMD9L, or RUNX1) are at an increased risk. Given the clinical and psychological impact associated with the diagnosis of a genetic predisposition to HM, it is of utmost importance to provide standardized patient care, harmonized across Europe. Here, the Familial Leukemia Subnetwork within the ERN PaedCan aims to develop European consensus guidelines that reflect current best practices for patients and healthy relatives with (suspected) familial leukemia. We describe key issues for the medical care of individuals and families with familial leukemia that shall pave the way for European consensus recommendations: (i) identification of individuals suggestive of familial leukemia, (ii) comprehensive genetic analysis and variant interpretation, (iii) genetic counselling and patient education, and (iv) surveillance within or guided by registries/studies as well as interaction with patient representatives. The recommendations shall cover both, index patients as well as their family members at risk. The present guideline on familial leukemia is proposed by an interdisciplinary team of experts including hematologists, oncologists, and human geneticists, with the intention to provide general recommendations in areas where disease specific recommendations do not yet exist. It illustrates the need of natural history studies and the impact of respective registries for future evidence-based recommendations and shall be updated as new evidence-based standards are established. Currently, the draft of the European Standard Clinical Practice is evaluated by PaedCan and SIOPE for final endorsement.