Year: 2023
Type: editorial
Abstract: ACMG recommend germ line genetic testing when the pretest probability of a positive finding is >5%. 8-10Therefore, we should be offering genetic counseling and testing to a larger and larger population of patients: patients with MDS aged <40 years; patients with MDS of any age going to related HCT; and, now based on this study, individuals with unexplained cytopenias and hypocellular marrows.These investigators had limited ability to predict those with germ line predisposition based on demographic data, clinical presentation, or family history, demonstrating that it is not obvious a priori who will have germ line risk.Thus, one wonders if/when we will have sufficient data to justify germ line genetic testing as standard of care for all patients undergoing evaluations for persistent cytopenias, HMs, and/or allogeneic HCT.
Source: Blood
Author: Helen S. Goodridge
Institution: Cedars-Sinai Medical Center
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4385898760