Disparities in cancer genetics care by race/ethnicity among pan‐cancer patients with pathogenic germline variants
Authors: Liu Ying L. , Maio Anna , Kemel Yelena , Salo‐Mullen Erin E. , Sheehan Margaret , Tejada Prince Ray , Trottier Magan , Arnold Angela G. , Fleischut Megan Harlan , Latham Alicia , Carlo Maria I. , Murciano‐Goroff Yonina R. , Walsh Michael F. , Mandelker Diana , Mehta Nikita , Bandlamudi Chaitanya , Arora Kanika , Zehir Ahmet , Berger Michael F. , Solit David B. , Aghajanian Carol , Diaz Luis A. , Robson Mark E. , Brown Carol L. , Offit Kenneth , Hamilton Jada G. , Stadler Zsofia K. 
Published: August 2022

Background

Germline risk assessment is increasing as part of cancer care; however, disparities in subsequent genetic counseling are unknown.

Methods

Pan‐cancer patients were prospectively consented to tumor‐normal sequencing via custom next generation sequencing panel (Memorial Sloan Kettering‐Integrated Mutation Profiling of Actionable Cancer Targets) inclusive of germline analysis of ≥76 genes from January 2015 through December 2019 (97.5% research nonbillable) with protocol for genetics referral. Rates of pathogenic/likely pathogenic germline variants (PVs) and downstream counseling were compared across ancestry groups (mutually exclusive groups based on self‐reported race/ethnicity and Ashkenazi Jewish [AJ] heritage) using nonparametric tests and multivariable logistic regression models.

Results

Among 15,775 patients (59.6%, non‐Hispanic [NH]‐White; 15.7%, AJ; 20.5%, non‐White [6.9%, Asian; 6.8%, Black/African American (AA); 6.7%, Hispanic; 0.1%, Other], and 4.2%, unknown), 2663 (17%) had a PV. Non‐White patients had a lower PV rate (n = 433, 13.4%) compared to NH‐Whites (n = 1451, 15.4%) and AJ patients (n = 683, 27.6%), p < .01, with differences in mostly moderate and low/recessive/uncertain penetrance variants. Among 2239 patients with new PV, 1652 (73.8%) completed recommended genetic counseling. Non‐White patients had lower rates of genetic counseling (67.7%) than NH‐White (73.7%) and AJ patients (78.8%), p < .01, with lower rates occurring in Black/AA (63%) compared to NH‐White patients, even after adjustment for confounders (odds ratio, 0.60; 95% confidence interval, 0.37–0.97; p = .036). Non‐White, particularly Black/AA and Asian, probands had a trend toward lower rates and numbers of at‐risk family members being seen for counseling/genetic testing.

Conclusions

Despite minimizing barriers to genetic testing, non‐White patients were less likely to receive recommended cancer genetics follow‐up, with potential implications for oncologic care, cancer risk reduction, and at‐risk family members.

Lay summary

Genetic testing is becoming an important part of cancer care, and we wanted to see if genetics care was different between individuals of different backgrounds.

We studied 15,775 diverse patients with cancer who had genetic testing using a test called MSK‐IMPACT that was covered by research funding.

Clinically important genetic findings were high in all groups.

However, Black patients were less likely to get recommended counseling compared to White patients.

Even after removing many roadblocks, non‐White and especially Black patients were less likely to get recommended genetics care, which may affect their cancer treatments and families.