For years, care incidence gaps were chalked up to money, insurance and getting to the doctor. While those factors are important, they miss one critical detail: that genes and ancestry shape how cancer develops, proving that no two patients are exactly alike.
“Often, we assume that the reason for most gaps in health care outcomes is an inability to access health care, as some patients simply cannot get transportation to get to the hospital or doctors’ appointments, or they lack insurance,” said Somedeb Ball, MBBS, Assistant Professor of Medicine in Hematology/Oncology at Vanderbilt-Ingram Cancer Center. “But in addition to those factors, we must recognize scientifically that we are not all the same. Understanding the biologic differences in genes and ancestry can provide insights into delivering personalized care.”
Ball, who studies genetic mutations in acute myeloid leukemia (AML), an aggressive blood cancer that has a five-year survival rate of only 30%, set out to investigate and get some answers.
The Problem: A Long-Standing Blind Spot
AML is predominantly diagnosed in white populations, and in turn, up to 90% of clinical trial participants are white. As a result, standard classification criteria, risk stratification models, and approach to targeted therapies have been heavily skewed toward European ancestry, which left big gaps in care for patients of color, particularly Black patients.
But AML is driven by complex combinations of multiple genetic mutations rather than a single defect, so targeted therapies designed around European genetic profiles often fail or lead to treatment resistance in other races and ethnicities.
To address this problem, Ball collaborated with Chidiebube Ugwu, MD, of Jefferson Einstein Philadelphia Hospital, and Jude Ossai, MD, of Newark Beth Israel Medical Center. The research team analyzed American Association for Cancer Research (AACR) Project Genomics Evidence Neoplasia Information Exchange (GENIE) data from 2,359 patients with AML (243 Black and 2,116 white) to examine how mutational landscapes differ by race.
The Key Findings: A Distinct Biological Profile
The study revealed significant biological differences in Black AML patients that directly challenge current “race-blind” risk models:
- Lower splicing factor mutations: Black patients exhibited lower rates of splicing factor gene mutations compared to white patients.
- Unexpected early-onset mutations: Black patients under age 40 showed a significantly higher prevalence of myelodysplastic syndrome-related mutations, such as ASXL1.
- Unique co-mutations: Distinct co-mutation patterns were identified in Black patients, particularly involving the RAS/MAPK signaling pathway.
- Altered prognostic indicators: Mutations traditionally classified as “favorable” (such as NPM1) provided protective survival benefits in white patients but failed to do the same in Black patients.
“Because existing risk stratification models were built on data from white patients, we must update how we categorize risk to ensure precision care for Black patients,” Ball said.
The Solutions: Re-Evaluating Guidelines and Expanding Clinical Access
These findings underscore that AML cannot be treated with a “one-size-fits-all” strategy. Shared at the 2026 ASCO Annual Meeting and featured in Specialty Pharmacy Continuum, the team’s research highlights an urgent need for the academic community to incorporate ancestry-specific differences into clinical guidelines.
Moving forward, Ball cited two changes that would work toward a more full understanding of AML: actively recruiting a broad and representative cohort of participants in clinical trials, while expanding genomic testing in community settings.
“Expanding access to genomic tools helps doctors understand the drivers of each patient’s cancer, while robust trial participation ensures new therapies benefit everyone and are applicable to people of all racial and ethnic groups,” he said.
Achieving this will require proactive outreach.
“It is our responsibility as investigators and physicians to meet patients where they are, address their concerns, and clearly communicate how participating in research helps both them and future patients. Building truly inclusive precision oncology requires a unified, comprehensive effort from the top down,” Ball said.
