Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients

• Published in: JAMA internal medicine Vol. 181; no. 8; p. 1100
• Main Authors: Van Driest, Sara L, Abul-Husn, Noura S, Glessner, Joseph T, Bastarache, Lisa, Nirenberg, Sharon, Schildcrout, Jonathan S, Eswarappa, Meghana S, Belbin, Gillian M, Shaffer, Christian M, Mentch, Frank, Connolly, John, Shi, Mingjian, Stein, C Michael, Roden, Dan M, Hakonarson, Hakon, Cox, Nancy J, Borinstein, Scott C, Mosley, Jonathan D
• Format: Journal Article
• Language: English
• Published: United States 01.08.2021
• Subjects: Adult; African Americans - genetics; Biopsy - methods; Biopsy - statistics & numerical data; Bone Marrow Examination - methods; Bone Marrow Examination - statistics & numerical data; Duffy Blood-Group System - genetics; Female; Gene Expression Profiling - statistics & numerical data; Genetic Profile; Genome-Wide Association Study; Humans; Leukocyte Count; Male; Neutropenia - diagnosis; Neutropenia - ethnology; Neutropenia - genetics; Polymorphism, Single Nucleotide; Receptors, Cell Surface - genetics; United States - epidemiology; Unnecessary Procedures - methods; Unnecessary Procedures - statistics & numerical data; United States
• ISSN: 2168-6114
• DOI: 10.1001/jamainternmed.2021.3108

Up to two-thirds of African American individuals carry the benign rs2814778-CC genotype that lowers total white blood cell (WBC) count. 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. 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. The rs2814778-CC genotype. 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. 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). 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.