Clinical guideline variability in the diagnosis of hereditary hematopoietic malignancy syndromes

Abstract

A growing understanding of the complexities of hematopoietic malignancies necessitates the existence of clinical recommendations that are sufficiently comprehensive. Although hereditary hematopoietic malignancies (HHMs) are increasingly recognized for conferring risk of myeloid malignancy, frequently utilized clinical recommendations have never been appraised for the ability to reliably guide HHM evaluation. We assessed established society-level clinical guidelines for inclusion of critical HHM genes and graded the strength of testing recommendations. We uncovered a substantial lack of consistency of recommendations guiding HHM evaluation. Such heterogeneity in guidelines likely contributes to refusal by payers to support HHM testing, leading to underdiagnoses and lost opportunities for clinical surveillance.

Keywords:

• Neoplasia
• genetic and other predisposing conditions
• neoplasia
• myeloid leukemias and dysplasias
• marrow and stem cell transplantation
• clinical results

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

GWR is supported by a Basic Medical Research Training Grant in Oncology (T32 CA09566).