1. Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients.
- Author
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Van Driest SL, Abul-Husn NS, Glessner JT, Bastarache L, Nirenberg S, Schildcrout JS, Eswarappa MS, Belbin GM, Shaffer CM, Mentch F, Connolly J, Shi M, Stein CM, Roden DM, Hakonarson H, Cox NJ, Borinstein SC, and Mosley JD
- Subjects
- Adult, Female, Gene Expression Profiling statistics & numerical data, Genetic Profile, Genome-Wide Association Study, Humans, Leukocyte Count, Male, Polymorphism, Single Nucleotide, United States epidemiology, Unnecessary Procedures methods, Unnecessary Procedures statistics & numerical data, Black or African American genetics, Biopsy methods, Biopsy statistics & numerical data, Bone Marrow Examination methods, Bone Marrow Examination statistics & numerical data, Duffy Blood-Group System genetics, Neutropenia diagnosis, Neutropenia ethnology, Neutropenia genetics, Receptors, Cell Surface genetics
- 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 (Pā<ā.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.
- Published
- 2021
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