Dataset Information
Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients.
Ontology highlight
ABSTRACT: Importance
Up to two-thirds of African American individuals carry the benign rs2814778-CC genotype that lowers total white blood cell (WBC) count.Objective
To examine whether the rs2814778-CC genotype is associated with an increased likelihood of receiving a bone marrow biopsy (BMB) for an isolated low WBC count.Design, setting, and participants
This retrospective genetic association study assessed African American patients younger than 90 years who underwent a BMB at Vanderbilt University Medical Center, Mount Sinai Health System, or Children's Hospital of Philadelphia from January 1, 1998, to December 31, 2020.Exposure
The rs2814778-CC genotype.Main outcomes and measures
The proportion of individuals with the CC genotype who underwent BMB for an isolated low WBC count and had a normal biopsy result compared with the proportion of individuals with the CC genotype who underwent BMB for other indications and had a normal biopsy result.Results
Among 399 individuals who underwent a BMB (mean [SD] age, 41.8 [22.5] years, 234 [59%] female), 277 (69%) had the CC genotype. A total of 35 patients (9%) had clinical histories of isolated low WBC counts, and 364 (91%) had other histories. Of those with a clinical history of isolated low WBC count, 34 of 35 (97%) had the CC genotype vs 243 of 364 (67%) of those without a low WBC count history. Among those with the CC genotype, 33 of 34 (97%) had normal results for biopsies performed for isolated low WBC counts compared with 134 of 243 individuals (55%) with biopsies performed for other histories (P < .001).Conclusions and relevance
In this genetic association study, among patients of African American race who had a BMB with a clinical history of isolated low WBC counts, the rs2814778-CC genotype was highly prevalent, and 97% of these BMBs identified no hematologic abnormality. Accounting for the rs2814778-CC genotype in clinical decision-making could avoid unnecessary BMB procedures.
SUBMITTER: Van Driest SL
PROVIDER: S-EPMC8239990 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
Publications
Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients.
JAMA internal medicine 20210801 8
<h4>Importance</h4>Up to two-thirds of African American individuals carry the benign rs2814778-CC genotype that lowers total white blood cell (WBC) count.<h4>Objective</h4>To examine whether the rs2814778-CC genotype is associated with an increased likelihood of receiving a bone marrow biopsy (BMB) for an isolated low WBC count.<h4>Design, setting, and participants</h4>This retrospective genetic association study assessed African American patients younger than 90 years who underwent a BMB at Van ...[more]
