TY - JOUR
T1 - Association between a common, benign genotype and unnecessary bone marrow biopsies among African American patients
AU - van Driest, Sara L.
AU - Abul-Husn, Noura S.
AU - Glessner, Joseph T.
AU - Bastarache, Lisa
AU - Nirenberg, Sharon
AU - Schildcrout, Jonathan S.
AU - Eswarappa, Meghana S.
AU - Belbin, Gillian M.
AU - Shaffer, Christian M.
AU - Mentch, Frank
AU - Connolly, John
AU - Shi, Mingjian
AU - Stein, C. Michael
AU - Roden, Dan M.
AU - Hakonarson, Hakon
AU - Cox, Nancy J.
AU - Borinstein, Scott C.
AU - Mosley, Jonathan D.
N1 - Publisher Copyright:
© 2021 American Medical Association. All rights reserved.
PY - 2021/8
Y1 - 2021/8
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85108877880&partnerID=8YFLogxK
U2 - 10.1001/jamainternmed.2021.3108
DO - 10.1001/jamainternmed.2021.3108
M3 - Article
C2 - 34180972
AN - SCOPUS:85108877880
SN - 2168-6106
VL - 181
SP - 1100
EP - 1105
JO - JAMA Internal Medicine
JF - JAMA Internal Medicine
IS - 8
ER -