Archives     Advertise     Editorial Calendar      Advertiser Index     Subscribe     Contact Us    


Gene Variant Linked to Unnecessary Bone Marrow Biopsies in African Americans


 
From left, Scott Borinstein, MD, PhD, Jonathan Mosley, MD, PhD, and Sara Van Driest, MD, PhD, found that some healthy African Americans are having bone marrow biopsies they don't need. (photo by Erin O. Smith)

A gene variant that lowers white blood cell levels and is common in individuals with African ancestry contributes to unnecessary bone marrow biopsies, according to a study published June 28 in JAMA Internal Medicine.

The findings from three institutions, led by investigators at Vanderbilt University Medical Center, provide an example of how using genetic data could reduce a health disparity.

"We've essentially created this racial health disparity by not fully considering how genetic variation affects white blood cell levels," said Jonathan Mosley, MD, PhD, assistant professor of Medicine and Biomedical Informatics at VUMC. "Our study supports genotyping African Americans before performing a bone marrow biopsy for the indication of isolated low white blood cell counts."

It has long been observed that some healthy individuals of African ancestry have lower white blood cell counts -- because of low neutrophil levels -- compared to individuals of European ancestry. The condition, called Benign Ethnic Neutropenia, is associated with a variant in a chemokine receptor gene and does not increase risk for infection. About 63% of African Americans carry two copies of the gene variant that lowers neutrophil levels.

The problem, Mosley explained, is the definition of the "normal" range for white blood cell count, which is based largely on averages from individuals of European ancestry.

"Genetic variation has a large impact on the levels of biomarkers like white blood cell counts, but reference ranges are defined based on population averages without taking genotypes into account," Mosley said.

Mosley, Sara Van Driest, MD, PhD, and Scott Borinstein, MD, PhD, at VUMC set out to determine how the neutrophil-lowering genotype impacted the likelihood of bone marrow biopsies in African American patients.

Working with investigators at Mount Sinai Health System in New York and Children's Hospital of Philadelphia, they examined electronic health records and biobank data to identify African American patients under age 90 who had bone marrow biopsies between 1998 and 2020. At VUMC, the researchers used BioVU, Vanderbilt's DNA biobank linked to de-identified electronic health records.

Among 399 individuals they identified across the three institutions, 35 (9%) had a bone marrow biopsy for the indication of isolated low white blood cell counts, and 97% of these patients (34 of 35) had the neutrophil-lowering genotype compared to 67% of patients who had bone marrow biopsies for other indications. The biopsies were normal for 97% of patients with the neutrophil-lowering genotype (33 of 34) compared to 55% for patients with other histories.

"The genotype that causes lower white blood cells was almost always present in African American individuals who had a bone marrow biopsy solely for a low white blood cell count," said Van Driest, associate professor of Pediatrics and Medicine. "We hope that in the future, we can do a better job of recognizing these individuals with a benign cause for their low white blood cells counts so that bone marrow biopsies can be avoided."

The research team hopes the new study will help educate clinicians about the impact of genetic variation on white blood cell count specifically -- and potentially on many biomarkers.

"It is well established that many healthy African Americans have lower white blood cell counts, and yet these patients are still having biopsies. Clearly, we don't identify Benign Ethnic Neutropenia as frequently as we should," said Borinstein, associate professor of Pediatrics. "Ultimately, we would like to define personalized reference ranges for biomarkers based on genotype. Sometimes there's nothing wrong with having somewhat lower or higher white cell counts, and you don't want to take action on that unless you know there's likely to be disease."

Other biomarkers the researchers are investigating include prostate specific antigen and height in children.

VUMC investigators participating in the study also included Lisa Bastarache, MS, Jonathan Schildcrout, PhD, Christian Shaffer, Mingjian Shi, MD, PhD, C. Michael Stein, MD, Dan Roden, MD, and Nancy Cox, PhD. The research was supported by grants from the National Institutes of Health (GM130791, GM131770, HG006830).

 
Share:

Related Articles:


Recent Articles

AACR Establishes New Cancer Evolution Working Group

The American Association for Cancer Research (AACR) announced the formation of its seventh and newest scientific working group, which will be dedicated to supporting cancer evolution research.

Read More

Global Dementia Cases Forecasted To Triple By 2050

New analysis shows a decrease in prevalence due to education countered by increase due to heart health risk factors

Read More

Blackburn, Feinstein Introduce Bill to Protect Access to Breast Cancer Screenings

U.S. Senators Marsha Blackburn (R-Tenn.) and Dianne Feinstein (D-Calif.) today introduced the Protecting Access to Lifesaving Screenings (PALS) Act of 2021, a bill to preserve coverage for routine breast cancer screening for women beginning at age 40.

Read More

CUMBERLAND PHARMACEUTICALS REPORTS 2.5M PATIENT DOSES DELIVERED, NO PRODUCT RECALLS, NO FDA ISSUES IN 2020

The company's 2020 sustainability report highlights its commitment to environmental, social and governance (ESG) activities

Read More

Mobile Mentor Named Winner of Microsoft's 2021 Partner of the Year for Modern Endpoint Management

Mobile Mentor announced they have been awarded the 2021 Global Partner of the Year Award for Modern Endpoint Management.

Read More

Alzheimer's Association Welcomes CMS Announcement of National Coverage Determination Analysis on Treatment for Alzheimer's Disease

On behalf of all those living with Alzheimer's disease, their caregivers, and their families, we appreciate the Centers for Medicare & Medicaid Services (CMS) thoughtful consideration on coverage considerations for monoclonal antibodies targeting amyloid for the treatment of Alzheimer's disease, including aducanumab, which was recently approved by the Food and Drug Administration (FDA).

Read More

HCTec Acquires Talon Healthy IT Services

Healthcare IT firm adds industry-leading help desk service company to portfolio of solutions

Read More

The Seven Steps of Revenue Cycle for a Healthcare Practice

Revenue cycle management tracks patient revenue from the initial encounter with the healthcare system to payment of balance. Getting the seven steps of revenue cycle right helps providers avoid missteps that are costly to the bottom line.

Read More

Expanding Evidence-Based Care for Dementia

The Alzheimer's Association is on a mission to ensure care professionals have access to evidence-based training to ensure those with dementia receive quality care across all settings.

Read More

A Natural Leader

Nashville physician Dr. Ryan Mire to head nation's largest medical-specialty society.

Read More

Email Print
 
 

 

 


Tags:
None
Powered by Bondware
News Publishing Software

The browser you are using is outdated!

You may not be getting all you can out of your browsing experience
and may be open to security risks!

Consider upgrading to the latest version of your browser or choose on below: